#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AACS	65985	genome.wustl.edu	37	12	125558450	125558450	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:125558450C>T	ENST00000316519.6	+	2	368	c.162C>T	c.(160-162)tcC>tcT	p.S54S	AACS_ENST00000261686.6_Silent_p.S54S	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	54					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACCATTGGTCCGTTGAGTCAT	0.388																																						dbGAP											0													170.0	158.0	162.0					12																	125558450		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.162C>T	12.37:g.125558450C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	p.S54	ENST00000316519.6	37	c.162	CCDS9263.1	12																																																																																			AACS	-	pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	ENSG00000081760		0.388	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	166	0.00	0	C	NM_023928		125558450	125558450	+1	no_errors	ENST00000316519	ensembl	human	known	69_37n	silent	178	17.59	38	SNP	0.140	T
AAK1	22848	genome.wustl.edu	37	2	69757821	69757821	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:69757821T>C	ENST00000409085.4	-	7	1050	c.674A>G	c.(673-675)tAt>tGt	p.Y225C	AAK1_ENST00000406297.3_Missense_Mutation_p.Y225C|AAK1_ENST00000409068.1_Missense_Mutation_p.Y225C|AAK1_ENST00000470281.1_5'Flank	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGGTGCTCGATAGGACAGCGT	0.373																																						dbGAP											0													157.0	137.0	144.0					2																	69757821		1954	4147	6101	-	-	-	SO:0001583	missense	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.674A>G	2.37:g.69757821T>C	ENSP00000386456:p.Tyr225Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	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.Y225C	ENST00000409085.4	37	c.674	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648144	0.67358	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.56776	0.44;0.44;0.44	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	H	0.94345	3.525	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	0.85700	0.1312	10	0.87932	D	0	-11.7736	14.7527	0.69540	0.0:0.0:0.0:1.0	.	225;225;225	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	C	225	ENSP00000386342:Y225C;ENSP00000386456:Y225C;ENSP00000385181:Y225C	ENSP00000385181:Y225C	Y	-	2	0	AAK1	69611325	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.830000	0.86741	2.263000	0.75096	0.533000	0.62120	TAT	AAK1	-	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	ENSG00000115977		0.373	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	138	0.00	0	T	NM_014911		69757821	69757821	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	missense	117	38.74	74	SNP	1.000	C
ABCA13	154664	genome.wustl.edu	37	7	48259016	48259016	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:48259016T>A	ENST00000435803.1	+	4	377	c.353T>A	c.(352-354)aTa>aAa	p.I118K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	118					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTAAAAGAGATACAAGACCTG	0.398																																						dbGAP											0													80.0	77.0	78.0					7																	48259016		1821	4081	5902	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.353T>A	7.37:g.48259016T>A	ENSP00000411096:p.Ile118Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I118K	ENST00000435803.1	37	c.353	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560417	0.27827	.	.	ENSG00000179869	ENST00000435803	D	0.89270	-2.49	5.58	4.43	0.53597	.	0.829272	0.10459	N	0.672171	D	0.83234	0.5210	L	0.34521	1.04	0.33258	D	0.559327	B;B	0.34103	0.437;0.277	B;B	0.33042	0.157;0.092	T	0.82930	-0.0213	10	0.72032	D	0.01	.	8.5401	0.33388	0.0:0.0877:0.0:0.9123	.	118;118	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	K	118	ENSP00000411096:I118K	ENSP00000409268:I118K	I	+	2	0	ABCA13	48229562	0.460000	0.25776	0.089000	0.20774	0.415000	0.31203	1.629000	0.37071	1.054000	0.40438	0.533000	0.62120	ATA	ABCA13	-	NULL	ENSG00000179869		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	41	0.00	0	T	NM_152701		48259016	48259016	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	40	36.51	23	SNP	0.423	A
ABCA13	154664	genome.wustl.edu	37	7	48285189	48285189	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:48285189T>C	ENST00000435803.1	+	12	1495	c.1471T>C	c.(1471-1473)Ttc>Ctc	p.F491L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	491					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAGGATGTGTTCTTTTGGGA	0.328																																						dbGAP											0													125.0	124.0	124.0					7																	48285189		1825	4083	5908	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1471T>C	7.37:g.48285189T>C	ENSP00000411096:p.Phe491Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F491L	ENST00000435803.1	37	c.1471	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	8.446	0.851884	0.17034	.	.	ENSG00000179869	ENST00000435803	D	0.87887	-2.31	4.76	-0.541	0.11858	.	0.380795	0.22527	N	0.058885	T	0.66426	0.2788	N	0.12746	0.255	0.19575	N	0.999961	B	0.06786	0.001	B	0.06405	0.002	T	0.49808	-0.8900	10	0.18710	T	0.47	.	0.9274	0.01327	0.1549:0.1806:0.1607:0.5037	.	491	Q86UQ4	ABCAD_HUMAN	L	491	ENSP00000411096:F491L	ENSP00000411096:F491L	F	+	1	0	ABCA13	48255735	0.090000	0.21635	0.000000	0.03702	0.776000	0.43924	0.111000	0.15458	-0.275000	0.09219	0.533000	0.62120	TTC	ABCA13	-	NULL	ENSG00000179869		0.328	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	64	0.00	0	T	NM_152701		48285189	48285189	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	80	29.20	33	SNP	0.003	C
ABCA13	154664	genome.wustl.edu	37	7	48407468	48407469	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:48407468_48407469insA	ENST00000435803.1	+	32	10790_10791	c.10766_10767insA	c.(10765-10770)agaaagfs	p.RK3589fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3589					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCATGGTCAGAAAGTTGGTGT	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10769dupA	7.37:g.48407471_48407471dupA	ENSP00000411096:p.Arg3589fs	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L3591fs	ENST00000435803.1	37	c.10766_10767	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.446	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	143	0.00	0	-	NM_152701		48407468	48407469	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	frame_shift_ins	170	24.78	56	INS	0.994:0.885	A
ABCA3	21	genome.wustl.edu	37	16	2369781	2369781	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:2369781T>C	ENST00000301732.5	-	8	1374	c.674A>G	c.(673-675)tAc>tGc	p.Y225C	ABCA3_ENST00000382381.3_Missense_Mutation_p.Y225C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	225					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ATCGGCATGGTACTCCATGAT	0.647																																						dbGAP											0													118.0	93.0	101.0					16																	2369781		2198	4300	6498	-	-	-	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.674A>G	16.37:g.2369781T>C	ENSP00000301732:p.Tyr225Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y225C	ENST00000301732.5	37	c.674	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791376	0.50102	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90069	-2.61	5.18	5.18	0.71444	.	0.279301	0.36303	N	0.002680	D	0.94308	0.8171	M	0.85197	2.74	0.80722	D	1	D;D;D	0.63880	0.993;0.987;0.993	D;D;D	0.67900	0.954;0.928;0.943	D	0.94926	0.8078	10	0.66056	D	0.02	.	13.9986	0.64419	0.0:0.0:0.0:1.0	.	225;287;225	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	C	225;287	ENSP00000301732:Y225C	ENSP00000301732:Y225C	Y	-	2	0	ABCA3	2309782	1.000000	0.71417	0.297000	0.24988	0.044000	0.14063	5.738000	0.68613	2.181000	0.69327	0.533000	0.62120	TAC	ABCA3	-	NULL	ENSG00000167972		0.647	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	56	0.00	0	T	NM_001089		2369781	2369781	-1	no_errors	ENST00000301732	ensembl	human	known	69_37n	missense	34	36.84	21	SNP	1.000	C
ABCC11	85320	genome.wustl.edu	37	16	48201522	48201522	+	Missense_Mutation	SNP	G	G	A	rs387906296	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:48201522G>A	ENST00000394747.1	-	28	4290	c.3941C>T	c.(3940-3942)aCc>aTc	p.T1314I	ABCC11_ENST00000394748.1_Missense_Mutation_p.T1314I|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1314I|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1276I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1314	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CTGGATCAGGGTGTCTGTCTC	0.537																																						dbGAP											0													179.0	161.0	167.0					16																	48201522		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3941C>T	16.37:g.48201522G>A	ENSP00000378230:p.Thr1314Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDJ0|Q96JA6|Q9BX80	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.T1314I	ENST00000394747.1	37	c.3941	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	9.285	1.049119	0.19827	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.27	1.08	0.20341	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.248300	0.05418	N	0.543770	T	0.63177	0.2489	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.14438	0.01;0.005	B;B	0.17433	0.018;0.009	T	0.47686	-0.9098	10	0.37606	T	0.19	-0.0205	4.8946	0.13744	0.2433:0.2935:0.4631:0.0	.	1276;1314	Q96J66-2;Q96J66	.;ABCCB_HUMAN	I	1276;1314;1314;1314	ENSP00000311326:T1276I;ENSP00000349017:T1314I;ENSP00000378231:T1314I;ENSP00000378230:T1314I	ENSP00000311326:T1276I	T	-	2	0	ABCC11	46759023	0.012000	0.17670	0.026000	0.17262	0.523000	0.34469	0.615000	0.24329	-0.011000	0.14247	0.643000	0.83706	ACC	ABCC11	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000121270		0.537	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	78	0.00	0	G	NM_032583		48201522	48201522	-1	no_errors	ENST00000356608	ensembl	human	known	69_37n	missense	77	30.00	33	SNP	0.054	A
ABCC2	1244	genome.wustl.edu	37	10	101572815	101572815	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:101572815A>G	ENST00000370449.4	+	16	2121	c.2008A>G	c.(2008-2010)Ata>Gta	p.I670V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	670	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		I -> T (in dbSNP:rs17222632). {ECO:0000269|PubMed:22290738}.		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)	TGTGGCTGTGATAGGCCCTGT	0.498																																						dbGAP											0													97.0	94.0	95.0					10																	101572815		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2008A>G	10.37:g.101572815A>G	ENSP00000359478:p.Ile670Val	Somatic		WXS	Illumina GAIIx	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.I670V	ENST00000370449.4	37	c.2008	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	A	3.149	-0.174659	0.06421	.	.	ENSG00000023839	ENST00000370449	D	0.87103	-2.21	5.79	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.110564	0.64402	N	0.000010	T	0.70351	0.3214	N	0.05050	-0.12	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64816	-0.6318	10	0.02654	T	1	-7.5708	13.1352	0.59405	0.085:0.0:0.915:0.0	.	670	Q92887	MRP2_HUMAN	V	670	ENSP00000359478:I670V	ENSP00000359478:I670V	I	+	1	0	ABCC2	101562805	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	5.779000	0.68948	1.247000	0.43917	-0.417000	0.06048	ATA	ABCC2	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.498	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	46	0.00	0	A	NM_000392		101572815	101572815	+1	no_errors	ENST00000370449	ensembl	human	known	69_37n	missense	30	40.00	20	SNP	1.000	G
ABCC5	10057	genome.wustl.edu	37	3	183683014	183683014	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:183683014T>C	ENST00000334444.6	-	14	2230	c.1990A>G	c.(1990-1992)Agg>Ggg	p.R664G	ABCC5_ENST00000265586.6_Missense_Mutation_p.R664G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	664	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|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(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGGTCAGGCCTCAGGCAGCAG	0.617																																						dbGAP											0													56.0	58.0	58.0					3																	183683014		2142	4252	6394	-	-	-	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1990A>G	3.37:g.183683014T>C	ENSP00000333926:p.Arg664Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	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.R664G	ENST00000334444.6	37	c.1990	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546976	0.45383	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.90324	-2.65;-2.65	5.69	3.15	0.36227	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.050855	0.64402	D	0.000001	D	0.83101	0.5181	N	0.17278	0.47	0.47584	D	0.999469	B;B	0.21688	0.059;0.039	B;B	0.29716	0.106;0.07	T	0.76740	-0.2848	10	0.33141	T	0.24	-24.5543	12.283	0.54776	0.0:0.0:0.4239:0.5761	.	664;664	Q86UX3;O15440	.;MRP5_HUMAN	G	664;600;664	ENSP00000333926:R664G;ENSP00000265586:R664G	ENSP00000265586:R664G	R	-	1	2	ABCC5	185165708	0.980000	0.34600	1.000000	0.80357	0.996000	0.88848	1.104000	0.31074	0.962000	0.38057	0.533000	0.62120	AGG	ABCC5	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000114770		0.617	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	73	0.00	0	T	NM_005688		183683014	183683014	-1	no_errors	ENST00000334444	ensembl	human	known	69_37n	missense	80	27.27	30	SNP	1.000	C
ABHD13	84945	genome.wustl.edu	37	13	108881759	108881759	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:108881759C>T	ENST00000375898.3	+	2	494	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	65						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGATGTATTGCTTTATTTTCC	0.358																																					Pancreas(22;506 789 38166 45896 51596)	dbGAP											0													113.0	117.0	116.0					13																	108881759		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.193C>T	13.37:g.108881759C>T	ENSP00000365063:p.Leu65Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AXE1	p.L65F	ENST00000375898.3	37	c.193	CCDS32007.1	13	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888918	0.72524	.	.	ENSG00000139826	ENST00000375898	T	0.46451	0.87	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74284	-0.3715	10	0.72032	D	0.01	-19.846	18.7829	0.91941	0.0:1.0:0.0:0.0	.	65	Q7L211	ABHDD_HUMAN	F	65	ENSP00000365063:L65F	ENSP00000365063:L65F	L	+	1	0	ABHD13	107679760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.393000	0.79851	2.666000	0.90696	0.557000	0.71058	CTT	ABHD13	-	NULL	ENSG00000139826		0.358	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD13	HGNC	protein_coding	OTTHUMT00000045743.1	95	0.00	0	C	NM_032859		108881759	108881759	+1	no_errors	ENST00000375898	ensembl	human	known	69_37n	missense	61	46.02	52	SNP	1.000	T
ABHD2	11057	genome.wustl.edu	37	15	89698709	89698709	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:89698709A>G	ENST00000352732.5	+	5	1002	c.482A>G	c.(481-483)aAc>aGc	p.N161S	ABHD2_ENST00000355100.3_Missense_Mutation_p.N161S|ABHD2_ENST00000565973.1_Missense_Mutation_p.N161S	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	161					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCGTGCTGAACCACCTGGGT	0.527																																					Colon(11;252 417 24570 33239 41878)	dbGAP											0													162.0	133.0	143.0					15																	89698709		2200	4299	6499	-	-	-	SO:0001583	missense	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.482A>G	15.37:g.89698709A>G	ENSP00000268129:p.Asn161Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.N161S	ENST00000352732.5	37	c.482	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	A	29.3	4.998380	0.93227	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.47177	0.85;0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	M	0.65975	2.015	0.80722	D	1	P	0.49862	0.929	P	0.59825	0.864	T	0.68221	-0.5466	10	0.87932	D	0	-1.0008	15.8956	0.79333	1.0:0.0:0.0:0.0	.	161	P08910	ABHD2_HUMAN	S	161	ENSP00000268129:N161S;ENSP00000347217:N161S	ENSP00000268129:N161S	N	+	2	0	ABHD2	87499713	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.183000	0.94887	2.198000	0.70561	0.533000	0.62120	AAC	ABHD2	-	pirsf_AB-Hydro_YheT	ENSG00000140526		0.527	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	74	0.00	0	A			89698709	89698709	+1	no_errors	ENST00000352732	ensembl	human	known	69_37n	missense	95	19.49	23	SNP	1.000	G
ABR	29	genome.wustl.edu	37	17	910413	910413	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:910413T>A	ENST00000302538.5	-	22	2628	c.2482A>T	c.(2482-2484)Atg>Ttg	p.M828L	ABR_ENST00000291107.2_Missense_Mutation_p.M791L|ABR_ENST00000536794.2_Missense_Mutation_p.M610L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Missense_Mutation_p.M279L|ABR_ENST00000544583.2_Missense_Mutation_p.M782L|ABR_ENST00000574437.1_Missense_Mutation_p.M782L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	828	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACCTGCGCCATGACGTCATGG	0.667																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													126.0	99.0	108.0					17																	910413		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2482A>T	17.37:g.910413T>A	ENSP00000303909:p.Met828Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.M828L	ENST00000302538.5	37	c.2482	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138842	0.77775	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.20738	2.07;2.1;2.05;3.29;3.09	6.17	6.17	0.99709	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.084532	0.85682	D	0.000000	T	0.32194	0.0821	L	0.34521	1.04	0.46654	D	0.999147	B;P;P;B;B	0.38863	0.33;0.65;0.65;0.33;0.188	B;P;P;B;B	0.54140	0.084;0.743;0.743;0.162;0.074	T	0.02713	-1.1120	10	0.45353	T	0.12	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	610;279;791;738;828	B7Z683;F5H3S2;Q12979-2;B7Z2X0;Q12979	.;.;.;.;ABR_HUMAN	L	828;782;791;610;279	ENSP00000303909:M828L;ENSP00000442048:M782L;ENSP00000291107:M791L;ENSP00000437429:M610L;ENSP00000445198:M279L	ENSP00000291107:M791L	M	-	1	0	ABR	857163	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.033000	0.88852	2.371000	0.80710	0.533000	0.62120	ATG	ABR	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000159842		0.667	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	106	0.00	0	T			910413	910413	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	missense	62	35.42	34	SNP	1.000	A
ACE	1636	genome.wustl.edu	37	17	61566421	61566421	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:61566421C>T	ENST00000290866.4	+	17	2593	c.2569C>T	c.(2569-2571)Cgc>Tgc	p.R857C	ACE_ENST00000421982.2_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.R283C|ACE_ENST00000490216.2_Missense_Mutation_p.R283C|ACE_ENST00000577647.1_Missense_Mutation_p.R283C|ACE_ENST00000428043.1_Missense_Mutation_p.R857C|ACE_ENST00000413513.3_Missense_Mutation_p.R283C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	857	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGCCTACGTGCGCCGGGCCCT	0.632																																						dbGAP											0													57.0	51.0	53.0					17																	61566421		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2569C>T	17.37:g.61566421C>T	ENSP00000290866:p.Arg857Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.R857C	ENST00000290866.4	37	c.2569	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180640	0.57800	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.84	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	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	0.998;0.999;1.0	D	0.86277	0.1665	10	0.87932	D	0	-35.7044	14.7882	0.69819	0.0:0.931:0.0:0.069	.	283;283;857	B4DXI3;P12821-3;P12821	.;.;ACE_HUMAN	C	857;857;283;283	ENSP00000290866:R857C;ENSP00000397593:R857C;ENSP00000290863:R283C;ENSP00000392247:R283C	ENSP00000290863:R283C	R	+	1	0	ACE	58920153	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.818000	0.86416	1.484000	0.48361	0.561000	0.74099	CGC	ACE	-	pfam_Peptidase_M2,prints_Peptidase_M2	ENSG00000159640		0.632	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	69	0.00	0	C			61566421	61566421	+1	no_errors	ENST00000290866	ensembl	human	known	69_37n	missense	57	32.14	27	SNP	1.000	T
ACHE	43	genome.wustl.edu	37	7	100491531	100491531	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:100491531T>C	ENST00000412389.1	-	1	478	c.323A>G	c.(322-324)tAc>tGc	p.Y108C	ACHE_ENST00000302913.4_Missense_Mutation_p.Y108C|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.Y108C|ACHE_ENST00000419336.2_Missense_Mutation_p.Y108C|ACHE_ENST00000241069.5_Missense_Mutation_p.Y108C|ACHE_ENST00000428317.1_Missense_Mutation_p.Y108C			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	108					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	AAAACCTGGGTATAGGGTGTC	0.592																																						dbGAP											0													126.0	116.0	119.0					7																	100491531		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.323A>G	7.37:g.100491531T>C	ENSP00000394976:p.Tyr108Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.Y108C	ENST00000412389.1	37	c.323	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870110	0.33069	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.18	3.95	0.45737	Carboxylesterase, type B (1);	0.199743	0.44483	D	0.000459	T	0.73345	0.3575	L	0.47190	1.495	0.45087	D	0.998107	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.981;0.99;0.988	T	0.75130	-0.3426	10	0.87932	D	0	.	9.0895	0.36601	0.1643:0.0:0.0:0.8357	.	108;108;108;108	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	C	108	ENSP00000403474:Y108C;ENSP00000241069:Y108C;ENSP00000414858:Y108C;ENSP00000303211:Y108C;ENSP00000394976:Y108C;ENSP00000397143:Y108C;ENSP00000399725:Y108C;ENSP00000404865:Y108C;ENSP00000396360:Y108C	ENSP00000241069:Y108C	Y	-	2	0	ACHE	100329467	.	.	1.000000	0.80357	0.294000	0.27393	.	.	1.935000	0.56089	0.459000	0.35465	TAC	ACHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000087085		0.592	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	49	0.00	0	T	NM_015831		100491531	100491531	-1	no_errors	ENST00000302913	ensembl	human	known	69_37n	missense	79	14.13	13	SNP	1.000	C
ACIN1	22985	genome.wustl.edu	37	14	23532278	23532278	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:23532278A>G	ENST00000262710.1	-	14	3244	c.2917T>C	c.(2917-2919)Tta>Cta	p.L973L	ACIN1_ENST00000357481.2_Silent_p.L215L|ACIN1_ENST00000605057.1_Silent_p.L915L|ACIN1_ENST00000557515.1_Silent_p.L214L|ACIN1_ENST00000555053.1_Silent_p.L960L|ACIN1_ENST00000457657.1_Silent_p.L933L|ACIN1_ENST00000397341.3_Silent_p.L215L|ACIN1_ENST00000338631.6_Silent_p.L246L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	973					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTATCTCCTAAAGTCACTATC	0.478																																						dbGAP											0													135.0	127.0	130.0					14																	23532278		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2917T>C	14.37:g.23532278A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.L973	ENST00000262710.1	37	c.2917	CCDS9587.1	14																																																																																			ACIN1	-	NULL	ENSG00000100813		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	50	0.00	0	A	NM_014977		23532278	23532278	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	silent	37	40.32	25	SNP	0.997	G
ACSF2	80221	genome.wustl.edu	37	17	48551262	48551262	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:48551262G>C	ENST00000300441.4	+	14	1729	c.1625G>C	c.(1624-1626)gGa>gCa	p.G542A	ACSF2_ENST00000541920.1_Missense_Mutation_p.G382A|ACSF2_ENST00000504392.1_Missense_Mutation_p.G499A|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Missense_Mutation_p.G529A|ACSF2_ENST00000427954.2_Missense_Mutation_p.G567A	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	542					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AAGGTGGTGGGAGTGAAGGAC	0.537																																						dbGAP											0													83.0	81.0	82.0					17																	48551262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1625G>C	17.37:g.48551262G>C	ENSP00000300441:p.Gly542Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G542A	ENST00000300441.4	37	c.1625	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711720	0.89112	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.948;1.0;1.0	D	0.84074	0.0381	10	0.87932	D	0	-12.1818	18.3413	0.90307	0.0:0.0:1.0:0.0	.	529;567;499;542	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	A	542;382;499;567;529	ENSP00000300441:G542A;ENSP00000437987:G382A;ENSP00000425964:G499A;ENSP00000401831:G567A;ENSP00000421884:G529A	ENSP00000300441:G542A	G	+	2	0	ACSF2	45906261	1.000000	0.71417	0.984000	0.44739	0.831000	0.47069	9.457000	0.97630	2.332000	0.79248	0.561000	0.74099	GGA	ACSF2	-	NULL	ENSG00000167107		0.537	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	119	0.00	0	G	NM_025149		48551262	48551262	+1	no_errors	ENST00000300441	ensembl	human	known	69_37n	missense	85	40.14	57	SNP	1.000	C
ACOX1	51	genome.wustl.edu	37	17	73951690	73951690	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:73951690T>C	ENST00000301608.4	-	6	791	c.731A>G	c.(730-732)aAc>aGc	p.N244S	ACOX1_ENST00000591857.1_5'Flank|ACOX1_ENST00000293217.5_Missense_Mutation_p.N244S|ACOX1_ENST00000537812.1_Missense_Mutation_p.N206S	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	244					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	AATACGATGGTTGTCCATTTT	0.433																																						dbGAP											0													136.0	115.0	122.0					17																	73951690		2203	4300	6503	-	-	-	SO:0001583	missense	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.731A>G	17.37:g.73951690T>C	ENSP00000301608:p.Asn244Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.N244S	ENST00000301608.4	37	c.731	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237912	0.58886	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	3.66	0.41972	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.170939	0.64402	D	0.000008	T	0.63827	0.2544	M	0.71296	2.17	0.46954	D	0.999264	B;B;B;B	0.24823	0.013;0.112;0.013;0.108	B;B;B;B	0.23419	0.013;0.046;0.014;0.031	T	0.65179	-0.6231	10	0.72032	D	0.01	-31.9811	10.1086	0.42548	0.0:0.1351:0.0:0.8649	.	176;206;244;244	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	S	244;244;206;244;176	ENSP00000301608:N244S;ENSP00000293217:N244S;ENSP00000441257:N206S	ENSP00000293217:N244S	N	-	2	0	ACOX1	71463285	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.936000	0.56568	1.148000	0.42385	0.533000	0.62120	AAC	ACOX1	-	superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.433	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	132	0.75	1	T			73951690	73951690	-1	no_errors	ENST00000293217	ensembl	human	known	69_37n	missense	124	18.42	28	SNP	1.000	C
ACSL6	23305	genome.wustl.edu	37	5	131323822	131323822	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:131323822G>T	ENST00000379240.1	-	7	828	c.675C>A	c.(673-675)atC>atA	p.I225I	ACSL6_ENST00000379264.2_Silent_p.I250I|ACSL6_ENST00000379249.3_Silent_p.I225I|ACSL6_ENST00000379244.1_Silent_p.I225I|ACSL6_ENST00000543479.1_Silent_p.I225I|ACSL6_ENST00000379272.2_Silent_p.I240I|ACSL6_ENST00000379255.1_Silent_p.I190I|ACSL6_ENST00000296869.4_Silent_p.I250I|ACSL6_ENST00000357096.1_Silent_p.I190I|ACSL6_ENST00000431707.1_Silent_p.I205I|ACSL6_ENST00000544770.1_Silent_p.I134I|ACSL6_ENST00000379246.1_Silent_p.I236I			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	225					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCCATGAGGATGATCAGCT	0.562																																						dbGAP											0													334.0	305.0	315.0					5																	131323822		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.675C>A	5.37:g.131323822G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.I250	ENST00000379240.1	37	c.750		5																																																																																			ACSL6	-	pfam_AMP-dep_Synth/Lig	ENSG00000164398		0.562	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	148	0.67	1	G	NM_015256		131323822	131323822	-1	no_errors	ENST00000296869	ensembl	human	known	69_37n	silent	111	30.19	48	SNP	0.998	T
ACTN1	87	genome.wustl.edu	37	14	69341721	69341721	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:69341721A>G	ENST00000193403.6	-	21	2917	c.2534T>C	c.(2533-2535)aTg>aCg	p.M845T	ACTN1_ENST00000376839.3_Missense_Mutation_p.M775T|ACTN1_ENST00000394419.4_Missense_Mutation_p.M867T|ACTN1_ENST00000438964.2_Missense_Mutation_p.M840T|ACTN1_ENST00000538545.2_Missense_Mutation_p.M883T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	845					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CAGCTCGTCCATGGTAATGTA	0.672																																						dbGAP											0													30.0	31.0	31.0					14																	69341721		2203	4299	6502	-	-	-	SO:0001583	missense	0			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2534T>C	14.37:g.69341721A>G	ENSP00000193403:p.Met845Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	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.M867T	ENST00000193403.6	37	c.2600	CCDS9792.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.039|6.039	0.375533|0.375533	0.11409|0.11409	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545|ENST00000555075	T;T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04;1.04|.	4.68|4.68	-0.0926|-0.0926	0.13656|0.13656	EF-hand, Ca insensitive (1);EF-hand-like domain (1);|.	0.520093|.	0.20072|.	N|.	0.099842|.	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999996|0.999996	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.28004|0.28004	-1.0057|-1.0057	10|5	0.45353|.	T|.	0.12|.	.|.	2.2031|2.2031	0.03929|0.03929	0.4766:0.2489:0.0734:0.2011|0.4766:0.2489:0.0734:0.2011	.|.	840;867;845;487|.	P12814-2;Q1HE25;P12814;B4DFY0|.	.;.;ACTN1_HUMAN;.|.	T|R	845;867;840;775;883|204	ENSP00000193403:M845T;ENSP00000377941:M867T;ENSP00000414272:M840T;ENSP00000366035:M775T;ENSP00000439828:M883T|.	ENSP00000193403:M845T|.	M|W	-|-	2|1	0|0	ACTN1|ACTN1	68411474|68411474	0.982000|0.982000	0.34865|0.34865	0.282000|0.282000	0.24776|0.24776	0.125000|0.125000	0.20455|0.20455	2.069000|2.069000	0.41481|0.41481	-0.097000|-0.097000	0.12307|0.12307	0.528000|0.528000	0.53228|0.53228	ATG|TGG	ACTN1	-	pfam_EF-hand_Ca_insen	ENSG00000072110		0.672	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	23	0.00	0	A	NM_001102		69341721	69341721	-1	no_errors	ENST00000394419	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.956	G
ACTN1	87	genome.wustl.edu	37	14	69358906	69358906	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:69358906C>T	ENST00000193403.6	-	10	1333	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	ACTN1_ENST00000376839.3_Missense_Mutation_p.R252Q|ACTN1_ENST00000554508.1_5'Flank|ACTN1_ENST00000394419.4_Missense_Mutation_p.R317Q|ACTN1_ENST00000438964.2_Missense_Mutation_p.R317Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.R317Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	317	Interaction with DDN.			R -> L (in Ref. 11; CAA38970). {ECO:0000305}.	actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCGGTAGTCCCGGAAGTCCTC	0.622																																						dbGAP											0													80.0	76.0	77.0					14																	69358906		2203	4300	6503	-	-	-	SO:0001583	missense	0			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.950G>A	14.37:g.69358906C>T	ENSP00000193403:p.Arg317Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	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.R317Q	ENST00000193403.6	37	c.950	CCDS9792.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.651159	0.96714	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.84826	0.5558	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.991;0.999;0.993	D	0.87964	0.2732	10	0.72032	D	0.01	.	17.9951	0.89181	0.0:1.0:0.0:0.0	.	317;317;317;317	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	Q	317;317;317;252;317	ENSP00000193403:R317Q;ENSP00000377941:R317Q;ENSP00000414272:R317Q;ENSP00000366035:R252Q;ENSP00000439828:R317Q	ENSP00000193403:R317Q	R	-	2	0	ACTN1	68428659	1.000000	0.71417	0.949000	0.38748	0.997000	0.91878	7.632000	0.83247	2.464000	0.83262	0.643000	0.83706	CGG	ACTN1	-	pfam_Spectrin_repeat	ENSG00000072110		0.622	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	72	0.00	0	C	NM_001102		69358906	69358906	-1	no_errors	ENST00000394419	ensembl	human	known	69_37n	missense	77	12.50	11	SNP	1.000	T
ADAM21	8747	genome.wustl.edu	37	14	70926261	70926261	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:70926261delT	ENST00000603540.1	+	2	2303	c.2045delT	c.(2044-2046)gttfs	p.V682fs	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Frame_Shift_Del_p.V682fs	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	682					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGAGAGGAGTTTTTTTGCCG	0.493																																						dbGAP											0													72.0	57.0	62.0					14																	70926261		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2045delT	14.37:g.70926261delT	ENSP00000474385:p.Val682fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43507|Q2VPC6|Q32MR0	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L684fs	ENST00000603540.1	37	c.2045	CCDS9804.1	14																																																																																			ADAM21	-	NULL	ENSG00000139985		0.493	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	92	0.00	0	T			70926261	70926261	+1	no_errors	ENST00000267499	ensembl	human	known	69_37n	frame_shift_del	80	28.70	33	DEL	0.000	-
ADAM23	8745	genome.wustl.edu	37	2	207460861	207460861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:207460861delC	ENST00000264377.3	+	24	2662	c.2334delC	c.(2332-2334)cacfs	p.H778fs	ADAM23_ENST00000374416.1_Frame_Shift_Del_p.H778fs|ADAM23_ENST00000374415.3_Frame_Shift_Del_p.H778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					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)	p.K781fs*3(2)		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)		GGAACCTTCACCCCCCCAAGG	0.453																																					Melanoma(194;1127 2130 19620 24042 27855)	dbGAP											2	Insertion - Frameshift(2)	ovary(2)											92.0	75.0	81.0					2																	207460861		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			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.2334delC	2.37:g.207460861delC	ENSP00000264377:p.His778fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU59	Frame_Shift_Del	DEL	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.K781fs	ENST00000264377.3	37	c.2334	CCDS2369.1	2																																																																																			ADAM23	-	NULL	ENSG00000114948		0.453	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	75	0.00	0	C	NM_003812		207460861	207460861	+1	no_errors	ENST00000264377	ensembl	human	known	69_37n	frame_shift_del	85	22.73	25	DEL	0.000	-
ADAMTS20	80070	genome.wustl.edu	37	12	43825144	43825144	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:43825144T>C	ENST00000389420.3	-	22	3251	c.3252A>G	c.(3250-3252)ccA>ccG	p.P1084P	ADAMTS20_ENST00000553158.1_Silent_p.P1084P|ADAMTS20_ENST00000395541.2_Silent_p.P238P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1084	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGGACCCCATGGTCCTACTT	0.393																																						dbGAP											0													103.0	96.0	98.0					12																	43825144		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3252A>G	12.37:g.43825144T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.P1084	ENST00000389420.3	37	c.3252	CCDS31778.2	12																																																																																			ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.393	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	49	0.00	0	T	NM_025003		43825144	43825144	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	silent	57	34.48	30	SNP	0.848	C
ADCY2	108	genome.wustl.edu	37	5	7414819	7414819	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:7414819T>C	ENST00000338316.4	+	2	433	c.344T>C	c.(343-345)aTa>aCa	p.I115T		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	115					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTGATATGGATATGCCTTGTT	0.458																																						dbGAP											0													266.0	226.0	240.0					5																	7414819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.344T>C	5.37:g.7414819T>C	ENSP00000342952:p.Ile115Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I115T	ENST00000338316.4	37	c.344	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567739	0.28003	.	.	ENSG00000078295	ENST00000338316	T	0.77229	-1.08	5.0	5.0	0.66597	.	0.249234	0.39615	N	0.001319	T	0.65719	0.2718	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.63400	-0.6646	10	0.52906	T	0.07	.	12.746	0.57281	0.0:0.0:0.0:1.0	.	115	Q08462	ADCY2_HUMAN	T	115	ENSP00000342952:I115T	ENSP00000342952:I115T	I	+	2	0	ADCY2	7467819	0.994000	0.37717	0.880000	0.34516	0.742000	0.42306	2.687000	0.46976	2.008000	0.58898	0.460000	0.39030	ATA	ADCY2	-	NULL	ENSG00000078295		0.458	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	279	0.00	0	T	NM_020546		7414819	7414819	+1	no_errors	ENST00000338316	ensembl	human	known	69_37n	missense	307	27.42	116	SNP	0.863	C
ADIPOR2	79602	genome.wustl.edu	37	12	1887038	1887038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:1887038C>T	ENST00000357103.4	+	4	561	c.310C>T	c.(310-312)Cga>Tga	p.R104*	ADIPOR2_ENST00000544470.1_3'UTR	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	104					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AGGTCGGTGGCGAGTGATCCC	0.463																																						dbGAP											0													181.0	136.0	151.0					12																	1887038		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.310C>T	12.37:g.1887038C>T	ENSP00000349616:p.Arg104*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YY5|Q9H737	Nonsense_Mutation	SNP	pfam_HlyIII-related	p.R104*	ENST00000357103.4	37	c.310	CCDS8511.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.130968	0.97310	.	.	ENSG00000006831	ENST00000357103	.	.	.	4.98	2.98	0.34508	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8967	14.0245	0.64577	0.3961:0.6039:0.0:0.0	.	.	.	.	X	104	.	ENSP00000349616:R104X	R	+	1	2	ADIPOR2	1757299	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.499000	0.35671	1.185000	0.42971	0.462000	0.41574	CGA	ADIPOR2	-	NULL	ENSG00000006831		0.463	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR2	HGNC	protein_coding	OTTHUMT00000252447.2	74	0.00	0	C	NM_024551		1887038	1887038	+1	no_errors	ENST00000357103	ensembl	human	known	69_37n	nonsense	103	22.22	30	SNP	1.000	T
AGAP1	116987	genome.wustl.edu	37	2	236653360	236653360	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:236653360G>A	ENST00000304032.8	+	5	995	c.415G>A	c.(415-417)Gct>Act	p.A139T	AGAP1_ENST00000336665.5_Missense_Mutation_p.A139T|AGAP1_ENST00000409457.1_Missense_Mutation_p.A139T|AGAP1_ENST00000409538.1_Missense_Mutation_p.A404T|AGAP1_ENST00000428334.2_5'Flank	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	139	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTGGGTGGACGCTGTTATATT	0.502																																						dbGAP											0													151.0	138.0	143.0					2																	236653360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.415G>A	2.37:g.236653360G>A	ENSP00000307634:p.Ala139Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.A139T	ENST00000304032.8	37	c.415	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395190	0.83011	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.36	5.36	0.76844	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.88303	0.6400	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.90952	0.4806	10	0.87932	D	0	.	19.0839	0.93194	0.0:0.0:1.0:0.0	.	139;139	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	T	139;139;139;86;404	ENSP00000387174:A139T;ENSP00000307634:A139T;ENSP00000338378:A139T;ENSP00000385492:A86T;ENSP00000386897:A404T	ENSP00000307634:A139T	A	+	1	0	AGAP1	236318099	1.000000	0.71417	0.970000	0.41538	0.177000	0.22998	9.671000	0.98627	2.513000	0.84729	0.650000	0.86243	GCT	AGAP1	-	pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	ENSG00000157985		0.502	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	130	0.00	0	G	NM_014914		236653360	236653360	+1	no_errors	ENST00000304032	ensembl	human	known	69_37n	missense	128	22.89	38	SNP	1.000	A
AGAP7P	653268	genome.wustl.edu	37	10	51465346	51465346	+	Frame_Shift_Del	DEL	G	G	-	rs377066109	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:51465346delG	ENST00000374095.5	-	7	1235	c.1110delC	c.(1108-1110)cccfs	p.P370fs		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		370	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CATGAGGAGAGGGGGGCGGGT	0.527																																						dbGAP											0													45.0	58.0	54.0					10																	51465346		2174	4261	6435	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000374095.5:c.1110delC	10.37:g.51465346delG	ENSP00000363208:p.Pro370fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH4	Frame_Shift_Del	DEL	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S371fs	ENST00000374095.5	37	c.1110	CCDS41524.1	10																																																																																			AGAP7	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000204169		0.527	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	61	0.00	0	G			51465346	51465346	-1	no_errors	ENST00000374095	ensembl	human	known	69_37n	frame_shift_del	49	35.90	28	DEL	0.996	-
AGBL2	79841	genome.wustl.edu	37	11	47698891	47698891	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:47698891A>G	ENST00000525123.1	-	14	2364	c.2079T>C	c.(2077-2079)caT>caC	p.H693H	AGBL2_ENST00000357610.3_Silent_p.H693H|AGBL2_ENST00000298861.4_Silent_p.H693H|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000528244.1_Silent_p.H655H	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	693						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTCCAAGTTCATGGAATTTCT	0.338																																						dbGAP											0													82.0	76.0	78.0					11																	47698891		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2079T>C	11.37:g.47698891A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	pfam_Peptidase_M14	p.H693	ENST00000525123.1	37	c.2079	CCDS7944.1	11																																																																																			AGBL2	-	NULL	ENSG00000165923		0.338	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	HGNC	protein_coding	OTTHUMT00000383726.2	113	0.00	0	A	NM_024783		47698891	47698891	-1	no_errors	ENST00000357610	ensembl	human	known	69_37n	silent	127	28.25	50	SNP	0.015	G
AGBL2	79841	genome.wustl.edu	37	11	47721055	47721055	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:47721055T>C	ENST00000525123.1	-	8	922	c.637A>G	c.(637-639)Aag>Gag	p.K213E	AGBL2_ENST00000357610.3_Missense_Mutation_p.K213E|AGBL2_ENST00000298861.4_Missense_Mutation_p.K213E|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.K175E	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	213						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCTGGTACCTTTTCATTTCCT	0.338																																						dbGAP											0													170.0	164.0	166.0					11																	47721055		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.637A>G	11.37:g.47721055T>C	ENSP00000435582:p.Lys213Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	pfam_Peptidase_M14	p.K213E	ENST00000525123.1	37	c.637	CCDS7944.1	11	.	.	.	.	.	.	.	.	.	.	T	10.07	1.250795	0.22880	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.22	2.87	0.33458	.	0.787669	0.12577	N	0.456746	T	0.22513	0.0543	M	0.76328	2.33	0.09310	N	0.999999	B;B;B	0.12013	0.004;0.002;0.005	B;B;B	0.13407	0.008;0.004;0.009	T	0.40289	-0.9571	10	0.16420	T	0.52	-13.4009	0.7123	0.00926	0.1927:0.1891:0.1327:0.4855	.	175;175;213	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	E	213;213;213;175;157;157	ENSP00000435582:K213E;ENSP00000350228:K213E;ENSP00000298861:K213E;ENSP00000436630:K175E;ENSP00000436063:K157E	ENSP00000298861:K213E	K	-	1	0	AGBL2	47677631	0.622000	0.27085	0.551000	0.28230	0.942000	0.58702	0.735000	0.26115	0.320000	0.23234	0.324000	0.21423	AAG	AGBL2	-	NULL	ENSG00000165923		0.338	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	HGNC	protein_coding	OTTHUMT00000383726.2	198	0.00	0	T	NM_024783		47721055	47721055	-1	no_errors	ENST00000357610	ensembl	human	known	69_37n	missense	196	28.21	77	SNP	0.024	C
AGFG2	3268	genome.wustl.edu	37	7	100159981	100159981	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:100159981C>A	ENST00000300176.4	+	7	1099	c.977C>A	c.(976-978)cCc>cAc	p.P326H	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	326					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCGGGGTGCCCGCTGCAGGT	0.667																																						dbGAP											0													39.0	40.0	39.0					7																	100159981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.977C>A	7.37:g.100159981C>A	ENSP00000300176:p.Pro326His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.P326H	ENST00000300176.4	37	c.977	CCDS5697.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.506645|2.506645	0.44558|0.44558	.|.	.|.	ENSG00000106351|ENSG00000106351	ENST00000300176|ENST00000429987	T|T	0.24723|0.41065	1.84|1.01	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.825637|0.825637	0.10965|0.10965	N|N	0.614505|0.614505	T|T	0.40473|0.40473	0.1118|0.1118	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.38642|.	0.641|.	B|.	0.38500|.	0.275|.	T|T	0.10683|0.10683	-1.0619|-1.0619	10|8	0.49607|0.36615	T|T	0.09|0.2	-58.2432|-58.2432	13.2834|13.2834	0.60228|0.60228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326|.	O95081|.	AGFG2_HUMAN|.	H|T	326|68	ENSP00000300176:P326H|ENSP00000388594:P68T	ENSP00000300176:P326H|ENSP00000388594:P68T	P|P	+|+	2|1	0|0	AGFG2|AGFG2	99997917|99997917	0.069000|0.069000	0.21087|0.21087	0.019000|0.019000	0.16419|0.16419	0.003000|0.003000	0.03518|0.03518	3.347000|3.347000	0.52200|0.52200	2.505000|2.505000	0.84491|0.84491	0.555000|0.555000	0.69702|0.69702	CCC|CCG	AGFG2	-	NULL	ENSG00000106351		0.667	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	23	0.00	0	C	NM_006076		100159981	100159981	+1	no_errors	ENST00000300176	ensembl	human	known	69_37n	missense	22	37.14	13	SNP	0.066	A
AHCTF1	25909	genome.wustl.edu	37	1	247012977	247012977	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:247012977A>T	ENST00000391829.2	-	33	6454	c.6331T>A	c.(6331-6333)Tct>Act	p.S2111T	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S2146T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S2120T			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2111	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTGGTTCAGAAAGGTCCGGC	0.453																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													108.0	100.0	103.0					1																	247012977		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6331T>A	1.37:g.247012977A>T	ENSP00000375705:p.Ser2111Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.S2120T	ENST00000391829.2	37	c.6358		1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814684	0.50527	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.40756	1.02;1.03;1.03	5.7	4.55	0.56014	.	0.000000	0.64402	D	0.000004	T	0.52725	0.1752	M	0.63843	1.955	0.32496	N	0.539485	D;D	0.61697	0.99;0.982	P;P	0.57371	0.819;0.664	T	0.62483	-0.6845	10	0.33940	T	0.23	-14.5093	10.8828	0.46948	0.8424:0.1576:0.0:0.0	.	2146;2111	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	T	2146;2120;2111	ENSP00000355464:S2146T;ENSP00000355465:S2120T;ENSP00000375705:S2111T	ENSP00000355465:S2120T	S	-	1	0	AHCTF1	245079600	0.999000	0.42202	0.995000	0.50966	0.129000	0.20672	1.800000	0.38833	0.954000	0.37851	0.496000	0.49642	TCT	AHCTF1	-	NULL	ENSG00000153207		0.453	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		193	0.00	0	A	NM_015446		247012977	247012977	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	302	24.31	97	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247030635	247030635	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:247030635T>C	ENST00000391829.2	-	26	3381	c.3258A>G	c.(3256-3258)ccA>ccG	p.P1086P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.P1121P|AHCTF1_ENST00000326225.3_Silent_p.P1095P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1086	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTATAGGAGATGGTTCTTCTA	0.368																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													28.0	30.0	29.0					1																	247030635		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3258A>G	1.37:g.247030635T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.P1095	ENST00000391829.2	37	c.3285		1																																																																																			AHCTF1	-	NULL	ENSG00000153207		0.368	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		29	0.00	0	T	NM_015446		247030635	247030635	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	silent	65	12.16	9	SNP	0.563	C
AHNAK	79026	genome.wustl.edu	37	11	62287328	62287328	+	Missense_Mutation	SNP	A	A	G	rs574242504		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:62287328A>G	ENST00000378024.4	-	5	14835	c.14561T>C	c.(14560-14562)gTt>gCt	p.V4854A	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4854					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCAGGTCAACATCAGGTAT	0.433																																						dbGAP											0													95.0	92.0	93.0					11																	62287328		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14561T>C	11.37:g.62287328A>G	ENSP00000367263:p.Val4854Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4854A	ENST00000378024.4	37	c.14561	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772805	0.49680	.	.	ENSG00000124942	ENST00000378024	T	0.00664	5.92	4.58	4.58	0.56647	.	0.562098	0.14995	N	0.286433	T	0.01976	0.0062	L	0.45698	1.435	0.31721	N	0.638277	D	0.53619	0.961	P	0.58454	0.839	T	0.50329	-0.8841	10	0.10636	T	0.68	-9.7798	13.6386	0.62237	1.0:0.0:0.0:0.0	.	4854	Q09666	AHNK_HUMAN	A	4854	ENSP00000367263:V4854A	ENSP00000367263:V4854A	V	-	2	0	AHNAK	62043904	0.678000	0.27586	1.000000	0.80357	0.960000	0.62799	5.703000	0.68340	1.718000	0.51419	0.391000	0.25812	GTT	AHNAK	-	NULL	ENSG00000124942		0.433	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	116	0.00	0	A	NM_024060		62287328	62287328	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	78	42.22	57	SNP	1.000	G
AHNAK	79026	genome.wustl.edu	37	11	62291016	62291016	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:62291016T>C	ENST00000378024.4	-	5	11147	c.10873A>G	c.(10873-10875)Acc>Gcc	p.T3625A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3625					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAGGGAGGGTAACATCGACT	0.488																																						dbGAP											0													198.0	202.0	201.0					11																	62291016		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10873A>G	11.37:g.62291016T>C	ENSP00000367263:p.Thr3625Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T3625A	ENST00000378024.4	37	c.10873	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	N	1.720	-0.496951	0.04291	.	.	ENSG00000124942	ENST00000378024	T	0.01043	5.41	4.41	3.24	0.37175	.	0.319686	0.30879	N	0.008682	T	0.01124	0.0037	L	0.35341	1.055	0.09310	N	0.999998	B	0.26547	0.152	B	0.30495	0.116	T	0.46247	-0.9205	10	0.08179	T	0.78	-23.4371	10.0577	0.42255	0.0:0.0831:0.0:0.9169	.	3625	Q09666	AHNK_HUMAN	A	3625	ENSP00000367263:T3625A	ENSP00000367263:T3625A	T	-	1	0	AHNAK	62047592	0.001000	0.12720	0.238000	0.24106	0.044000	0.14063	0.992000	0.29667	0.644000	0.30656	0.367000	0.22151	ACC	AHNAK	-	NULL	ENSG00000124942		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	133	0.00	0	T	NM_024060		62291016	62291016	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	87	41.72	63	SNP	0.731	C
AHNAK2	113146	genome.wustl.edu	37	14	105410652	105410652	+	Silent	SNP	G	G	T	rs182791499	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:105410652G>T	ENST00000333244.5	-	7	11255	c.11136C>A	c.(11134-11136)ccC>ccA	p.P3712P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3712						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)			CGGCTCCCTCGGGCACCTGGC	0.632																																						dbGAP											0													106.0	114.0	111.0					14																	105410652		1857	4093	5950	-	-	-	SO:0001819	synonymous_variant	0			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.11136C>A	14.37:g.105410652G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P3712	ENST00000333244.5	37	c.11136	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	82	0.00	0	G	NM_138420		105410652	105410652	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	silent	88	32.06	42	SNP	0.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105419812	105419812	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:105419812delT	ENST00000333244.5	-	7	2095	c.1976delA	c.(1975-1977)aagfs	p.K659fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	659						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)			AATTTGTTCCTTTTTTAAGCG	0.423																																						dbGAP											0													219.0	222.0	221.0					14																	105419812		1931	4133	6064	-	-	-	SO:0001589	frameshift_variant	0			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.1976delA	14.37:g.105419812delT	ENSP00000353114:p.Lys659fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K659fs	ENST00000333244.5	37	c.1976	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.423	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	180	0.00	0	T	NM_138420		105419812	105419812	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_del	207	22.06	60	DEL	0.001	-
AHSG	197	genome.wustl.edu	37	3	186338515	186338515	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:186338515A>G	ENST00000273784.5	+	7	979	c.903A>G	c.(901-903)ttA>ttG	p.L301L	AHSG_ENST00000411641.2_Silent_p.L300L	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	300					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCCATGTGTTACTGGCAGCTC	0.637																																						dbGAP											0													104.0	110.0	108.0					3																	186338515		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.903A>G	3.37:g.186338515A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.L300	ENST00000273784.5	37	c.900		3																																																																																			AHSG	-	NULL	ENSG00000145192		0.637	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	AHSG	HGNC	protein_coding	OTTHUMT00000344762.1	44	0.00	0	A	NM_001622		186338515	186338515	+1	no_errors	ENST00000411641	ensembl	human	known	69_37n	silent	63	25.00	21	SNP	0.000	G
AIMP2	7965	genome.wustl.edu	37	7	6063111	6063111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:6063111delA	ENST00000223029.3	+	4	871	c.752delA	c.(751-753)gaafs	p.E251fs	AIMP2_ENST00000395236.2_Frame_Shift_Del_p.E182fs|EIF2AK1_ENST00000199389.6_3'UTR|AIMP2_ENST00000400479.2_Frame_Shift_Del_p.E173fs	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	251	GST C-terminal.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGCAGTAAAGAAAAAGCCGCT	0.478																																						dbGAP											0													81.0	77.0	78.0					7																	6063111		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.752delA	7.37:g.6063111delA	ENSP00000223029:p.Glu251fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MR1|Q96CZ5|Q9P1L2	Frame_Shift_Del	DEL	superfamily_Glutathione-S-Trfase_C-like	p.A253fs	ENST00000223029.3	37	c.752	CCDS5344.1	7																																																																																			AIMP2	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000106305		0.478	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	59	0.00	0	A	NM_006303		6063111	6063111	+1	no_errors	ENST00000223029	ensembl	human	known	69_37n	frame_shift_del	67	35.24	37	DEL	1.000	-
AKAP5	9495	genome.wustl.edu	37	14	64936324	64936324	+	Silent	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:64936324T>A	ENST00000394718.4	+	2	1590	c.1212T>A	c.(1210-1212)atT>atA	p.I404I	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Silent_p.I404I|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	404	PKA-RII subunit binding domain.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AGAATGCTATTCAGTTGTCAA	0.353																																						dbGAP											0													89.0	97.0	95.0					14																	64936324		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1212T>A	14.37:g.64936324T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB8	Silent	SNP	pfam_Pkinase-A_anch_WSK-motif	p.I404	ENST00000394718.4	37	c.1212	CCDS9764.1	14																																																																																			AKAP5	-	NULL	ENSG00000179841		0.353	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKAP5	HGNC	protein_coding	OTTHUMT00000268070.3	41	0.00	0	T			64936324	64936324	+1	no_errors	ENST00000320636	ensembl	human	known	69_37n	silent	28	44.00	22	SNP	1.000	A
AK9	221264	genome.wustl.edu	37	6	109827679	109827679	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:109827679C>T	ENST00000424296.2	-	35	4776	c.4700G>A	c.(4699-4701)gGt>gAt	p.G1567D	AL109947.2_ENST00000517228.1_RNA|RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1567	Adenylate kinase 3.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CCTAATCTCACCAATATTTTT	0.353																																						dbGAP											0													238.0	174.0	194.0					6																	109827679		692	1590	2282	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4700G>A	6.37:g.109827679C>T	ENSP00000410186:p.Gly1567Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.G1567D	ENST00000424296.2	37	c.4700	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.187|0.187	-1.056852|-1.056852	0.01965|0.01965	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.75821|.	-0.97|.	4.76|4.76	-9.51|-9.51	0.00581|0.00581	ATPase, AAA+ type, core (1);|.	.|.	.|.	.|.	.|.	T|T	0.02727|0.02727	0.0082|0.0082	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.07927|0.07927	-1.0747|-1.0747	8|5	.|.	.|.	.|.	.|.	1.6466|1.6466	0.02763|0.02763	0.1309:0.2514:0.1655:0.4522|0.1309:0.2514:0.1655:0.4522	.|.	1567|.	Q5TCS8|.	AKD1_HUMAN|.	D|M	1567|405	ENSP00000410186:G1567D|.	.|.	G|V	-|-	2|1	0|0	AKD1|AKD1	109934372|109934372	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.192000|0.192000	0.23643|0.23643	-3.793000|-3.793000	0.00365|0.00365	-5.297000|-5.297000	0.00017|0.00017	-0.753000|-0.753000	0.03488|0.03488	GGT|GTG	AKD1	-	pfam_Adenylate_kin,smart_AAA+_ATPase	ENSG00000155085		0.353	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		150	0.00	0	C	NM_001145128		109827679	109827679	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	126	42.79	95	SNP	0.000	T
ALB	213	genome.wustl.edu	37	4	74285358	74285358	+	Splice_Site	SNP	T	T	C	rs79030409		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:74285358T>C	ENST00000503124.1	+	11	1542		c.e11+2		ALB_ENST00000509063.1_Splice_Site|ALB_ENST00000505649.1_Splice_Site|ALB_ENST00000415165.2_Splice_Site|ALB_ENST00000401494.3_Splice_Site|ALB_ENST00000295897.4_Splice_Site			Q8TES7	FBF1_HUMAN	albumin						apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCGAGGAGGTACTACAGTTC	0.413																																						dbGAP											0													140.0	139.0	139.0					4																	74285358		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1335+2T>C	4.37:g.74285358T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	-	e13+2	ENST00000503124.1	37	c.1785+2		4	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057517	0.36277	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202;ENST00000511370	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4333	0.75121	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALB	74504222	1.000000	0.71417	0.967000	0.41034	0.248000	0.25809	4.842000	0.62831	2.324000	0.78689	0.533000	0.62120	.	ALB	-	-	ENSG00000163631		0.413	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	ALB	HGNC	protein_coding	OTTHUMT00000365419.1	71	0.00	0	T	NM_000477	Intron	74285358	74285358	+1	no_errors	ENST00000295897	ensembl	human	known	69_37n	splice_site	107	27.03	40	SNP	0.992	C
ALDH3A2	224	genome.wustl.edu	37	17	19575060	19575060	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:19575060G>A	ENST00000176643.6	+	9	1680	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.G412R|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.G412R|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.G412R|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.G412R			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	412			G -> R (in SLS). {ECO:0000269|PubMed:9829906}.		cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					AGCTTATCACGGAAAACATAG	0.413																																						dbGAP											0			GRCh37	CM980053	ALDH3A2	M							111.0	112.0	112.0					17																	19575060		2203	4300	6503	-	-	-	SO:0001583	missense	0			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1234G>A	17.37:g.19575060G>A	ENSP00000176643:p.Gly412Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.G412R	ENST00000176643.6	37	c.1234	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836389	0.91117	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.89050	-2.46;-2.46;-2.46	6.06	6.06	0.98353	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97987	1.0352	10	0.87932	D	0	-23.5621	19.6125	0.95613	0.0:0.0:1.0:0.0	.	412;412	P51648;P51648-2	AL3A2_HUMAN;.	R	412	ENSP00000176643:G412R;ENSP00000378942:G412R;ENSP00000345774:G412R	ENSP00000176643:G412R	G	+	1	0	ALDH3A2	19515652	1.000000	0.71417	0.986000	0.45419	0.784000	0.44337	8.292000	0.89930	2.879000	0.98667	0.650000	0.86243	GGA	ALDH3A2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000072210		0.413	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	66	0.00	0	G			19575060	19575060	+1	no_errors	ENST00000339618	ensembl	human	known	69_37n	missense	68	27.66	26	SNP	1.000	A
ALG6	29929	genome.wustl.edu	37	1	63876980	63876980	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:63876980A>T	ENST00000371108.4	+	8	963	c.658A>T	c.(658-660)Aaa>Taa	p.K220*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.K222*	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	220					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAAGTGTTTTAAAAAAGGCCT	0.353																																						dbGAP											0													76.0	77.0	76.0					1																	63876980		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.658A>T	1.37:g.63876980A>T	ENSP00000360149:p.Lys220*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMU2|Q5SXR9|Q9H3I0	Nonsense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.K222*	ENST00000371108.4	37	c.664	CCDS30735.1	1	.	.	.	.	.	.	.	.	.	.	A	37	6.311665	0.97462	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	.	.	.	5.55	1.58	0.23477	.	0.085754	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-6.605	13.44	0.61108	0.6338:0.3662:0.0:0.0	.	.	.	.	X	220;222;19	.	ENSP00000263440:K222X	K	+	1	0	ALG6	63649568	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.075000	0.50073	0.444000	0.26612	-0.313000	0.08912	AAA	ALG6	-	pfam_Glyco_trans_ALG6/ALG8	ENSG00000088035		0.353	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	96	0.00	0	A	NM_013339		63876980	63876980	+1	no_errors	ENST00000263440	ensembl	human	known	69_37n	nonsense	138	25.41	47	SNP	1.000	T
ALOX15	246	genome.wustl.edu	37	17	4535246	4535246	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:4535246A>G	ENST00000570836.1	-	14	1843	c.1747T>C	c.(1747-1749)Ttc>Ctc	p.F583L	ALOX15_ENST00000293761.3_Missense_Mutation_p.F583L|ALOX15_ENST00000545513.1_Missense_Mutation_p.F605L|ALOX15_ENST00000574640.1_Missense_Mutation_p.F544L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	583	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GCCTGGTGGAAGTTGGGCAGT	0.612																																						dbGAP											0													69.0	69.0	69.0					17																	4535246		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1747T>C	17.37:g.4535246A>G	ENSP00000458832:p.Phe583Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.F605L	ENST00000570836.1	37	c.1813	CCDS11049.1	17	.	.	.	.	.	.	.	.	.	.	A	0.285	-0.983920	0.02180	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.75938	-0.98;-0.98	4.33	-3.84	0.04256	Lipoxygenase, C-terminal (3);	0.825620	0.10755	N	0.637917	T	0.40522	0.1120	N	0.01464	-0.85	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.004;0.004	T	0.30765	-0.9967	10	0.25751	T	0.34	-0.0045	7.7069	0.28655	0.2639:0.6136:0.1224:0.0	.	605;544;583	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	L	583;605	ENSP00000293761:F583L;ENSP00000439855:F605L	ENSP00000293761:F583L	F	-	1	0	ALOX15	4481995	0.000000	0.05858	0.014000	0.15608	0.268000	0.26511	-0.975000	0.03790	-0.464000	0.06963	-0.313000	0.08912	TTC	ALOX15	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml	ENSG00000161905		0.612	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	HGNC	protein_coding	OTTHUMT00000207487.2	74	0.00	0	A			4535246	4535246	-1	no_errors	ENST00000545513	ensembl	human	known	69_37n	missense	35	50.70	36	SNP	0.001	G
AMD1	262	genome.wustl.edu	37	6	111213605	111213605	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:111213605T>C	ENST00000368885.3	+	6	910	c.574T>C	c.(574-576)Ttc>Ctc	p.F192L	AMD1_ENST00000368876.1_Missense_Mutation_p.F123L|AMD1_ENST00000368877.5_Missense_Mutation_p.F163L|AMD1_ENST00000451850.2_Missense_Mutation_p.F72L|AMD1_ENST00000368882.3_Missense_Mutation_p.F44L	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	192					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TATGGACCAGTTCTACATGAA	0.413																																						dbGAP											0													83.0	78.0	80.0					6																	111213605		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.574T>C	6.37:g.111213605T>C	ENSP00000357880:p.Phe192Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.F192L	ENST00000368885.3	37	c.574	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780840	0.90195	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.41	4.21	0.49690	S-adenosylmethionine decarboxylase, core (2);	0.045546	0.85682	N	0.000000	D	0.82282	0.5003	H	0.94771	3.58	0.80722	D	1	D;P;P	0.89917	1.0;0.853;0.93	D;P;P	0.97110	1.0;0.704;0.831	D	0.86638	0.1890	9	0.87932	D	0	.	12.3802	0.55303	0.0:0.0:0.1409:0.8591	.	72;163;192	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	L	192;44;72;163;123	.	ENSP00000357870:F123L	F	+	1	0	AMD1	111320298	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.652000	0.83633	0.850000	0.35239	0.477000	0.44152	TTC	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	ENSG00000123505		0.413	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	115	0.00	0	T			111213605	111213605	+1	no_errors	ENST00000368885	ensembl	human	known	69_37n	missense	157	27.85	61	SNP	1.000	C
GMPPB	29925	genome.wustl.edu	37	3	49756369	49756369	+	3'UTR	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:49756369A>G	ENST00000480687.1	-	0	4015				RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.L177P|AMIGO3_ENST00000535833.1_Missense_Mutation_p.L177P|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGACCGTGCAGGTGGTCGAA	0.652											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													82.0	66.0	72.0					3																	49756369		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2816T>C	3.37:g.49756369A>G		Somatic	964	WXS	Illumina GAIIx	Phase_IV	A8K6N5|Q9H7U3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L177P	ENST00000480687.1	37	c.530	CCDS2803.1	3	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376040	0.82682	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.03524	3.9;3.9	5.34	5.34	0.76211	.	0.206940	0.35436	N	0.003215	T	0.21347	0.0514	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.01114	-1.1447	10	0.87932	D	0	-11.8257	14.1436	0.65336	1.0:0.0:0.0:0.0	.	177	Q86WK7	AMGO3_HUMAN	P	177	ENSP00000323096:L177P;ENSP00000439268:L177P	ENSP00000323096:L177P	L	-	2	0	AMIGO3	49731373	0.996000	0.38824	0.999000	0.59377	0.812000	0.45895	7.483000	0.81158	2.020000	0.59435	0.459000	0.35465	CTG	AMIGO3	-	NULL	ENSG00000176020		0.652	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	HGNC	protein_coding	OTTHUMT00000350291.1	22	0.00	0	A	NM_013334		49756369	49756369	-1	no_errors	ENST00000320431	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	G
AMZ1	155185	genome.wustl.edu	37	7	2748352	2748352	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:2748352T>C	ENST00000312371.4	+	4	969		c.e4+2		AMZ1_ENST00000407112.1_Splice_Site|AMZ1_ENST00000489665.1_Splice_Site	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1								metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CAGGGCACGGTGAGCCGGGGC	0.652																																						dbGAP											0													60.0	55.0	57.0					7																	2748352		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.601+2T>C	7.37:g.2748352T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRS0|Q8TF51	Splice_Site	SNP	-	e3+2	ENST00000312371.4	37	c.601+2	CCDS34589.1	7	.	.	.	.	.	.	.	.	.	.	T	16.22	3.062094	0.55432	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7325	0.62797	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMZ1	2714878	1.000000	0.71417	0.999000	0.59377	0.603000	0.37013	6.036000	0.70948	1.689000	0.51079	0.379000	0.24179	.	AMZ1	-	-	ENSG00000174945		0.652	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ1	HGNC	protein_coding	OTTHUMT00000325244.1	51	0.00	0	T	NM_133463	Intron	2748352	2748352	+1	no_errors	ENST00000312371	ensembl	human	known	69_37n	splice_site	22	25.81	8	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114117624	114117624	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:114117624T>C	ENST00000357077.4	+	3	338		c.e3+2		ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000506722.1_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						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)		GCCACTAAGGTAACATTTATG	0.423																																						dbGAP											0													70.0	74.0	73.0					4																	114117624		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			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.285+2T>C	4.37:g.114117624T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Splice_Site	SNP	-	e3+2	ENST00000357077.4	37	c.285+2	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792826	0.70452	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000343056	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3618	0.66776	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANK2	114337073	1.000000	0.71417	0.997000	0.53966	0.783000	0.44284	7.759000	0.85235	1.879000	0.54435	0.533000	0.62120	.	ANK2	-	-	ENSG00000145362		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	110	0.00	0	T	NM_001148	Intron	114117624	114117624	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	splice_site	75	40.62	52	SNP	1.000	C
ANK3	288	genome.wustl.edu	37	10	61823945	61823946	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:61823945_61823946insT	ENST00000280772.2	-	39	12611_12612	c.12420_12421insA	c.(12418-12423)aaatggfs	p.W4141fs	ANK3_ENST00000355288.2_Frame_Shift_Ins_p.W662fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.W1522fs|ANK3_ENST00000503366.1_Frame_Shift_Ins_p.W1529fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4141	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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						CTGGTAACCCATTTTTTTAATA	0.307																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			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.12421dupA	10.37:g.61823952_61823952dupT	ENSP00000280772:p.Trp4141fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	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.W4140fs	ENST00000280772.2	37	c.12421_12420	CCDS7258.1	10																																																																																			ANK3	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	ENSG00000151150		0.307	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	126	0.00	0	-	NM_020987		61823945	61823946	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	frame_shift_ins	136	25.27	46	INS	1.000:1.000	T
ANK3	288	genome.wustl.edu	37	10	61842479	61842479	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:61842479T>A	ENST00000280772.2	-	34	4408	c.4217A>T	c.(4216-4218)cAa>cTa	p.Q1406L	ANK3_ENST00000355288.2_Missense_Mutation_p.Q540L|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1400L|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1407L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1406	UPA domain. {ECO:0000250}.				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						ACAGGGCTCTTGGCTGGTGTC	0.393																																						dbGAP											0													94.0	95.0	95.0					10																	61842479		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4217A>T	10.37:g.61842479T>A	ENSP00000280772:p.Gln1406Leu	Somatic		WXS	Illumina GAIIx	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.Q1406L	ENST00000280772.2	37	c.4217	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	T	16.99	3.275348	0.59649	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.89	5.89	0.94794	.	0.000000	0.40818	N	0.001008	T	0.54498	0.1862	M	0.64567	1.98	0.80722	D	1	B;D;D;D;D;P	0.89917	0.243;0.992;1.0;0.993;0.999;0.851	B;D;D;D;D;P	0.87578	0.074;0.978;0.998;0.977;0.986;0.838	T	0.56685	-0.7938	10	0.87932	D	0	.	16.3083	0.82859	0.0:0.0:0.0:1.0	.	1407;540;1400;1406;641;540	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;ANK3_HUMAN;.;.	L	1406;1400;540;540;1407;1386;641;1041;1041;539	ENSP00000280772:Q1406L;ENSP00000362933:Q1400L;ENSP00000347436:Q540L;ENSP00000425236:Q1407L	ENSP00000280772:Q1406L	Q	-	2	0	ANK3	61512485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.302000	0.72788	2.250000	0.74265	0.455000	0.32223	CAA;CAA;CAA;CAA;CAA;CAA;CAA;CAA;CAA;CAG	ANK3	-	NULL	ENSG00000151150		0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	121	0.00	0	T	NM_020987		61842479	61842479	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	114	29.63	48	SNP	1.000	A
ANKRD11	29123	genome.wustl.edu	37	16	89357145	89357145	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:89357145C>A	ENST00000301030.4	-	6	949	c.489G>T	c.(487-489)aaG>aaT	p.K163N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K163N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	163					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)		GCTCGTTTCTCTTGTTCACTT	0.592																																						dbGAP											0													69.0	67.0	68.0					16																	89357145		2198	4300	6498	-	-	-	SO:0001583	missense	0			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.489G>T	16.37:g.89357145C>A	ENSP00000301030:p.Lys163Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K163N	ENST00000301030.4	37	c.489	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649677	0.87958	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.34472	1.36;1.36	5.45	4.5	0.54988	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	L	0.50993	1.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.998;0.998;0.996	T	0.57745	-0.7758	10	0.87932	D	0	.	14.3031	0.66368	0.0:0.9286:0.0:0.0714	.	163;177;163	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	N	163;163;177	ENSP00000301030:K163N;ENSP00000367581:K163N	ENSP00000301030:K163N	K	-	3	2	ANKRD11	87884646	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.903000	0.39858	1.436000	0.47453	0.561000	0.74099	AAG	ANKRD11	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167522		0.592	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	42	0.00	0	C	NM_013275		89357145	89357145	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	1.000	A
ANKRD45	339416	genome.wustl.edu	37	1	173593947	173593947	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:173593947A>G	ENST00000333279.2	-	5	769	c.709T>C	c.(709-711)Ttc>Ctc	p.F237L		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	253										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ATTTTTGTGAAGATAGGAGTC	0.353																																						dbGAP											0													122.0	118.0	120.0					1																	173593947		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.709T>C	1.37:g.173593947A>G	ENSP00000331268:p.Phe237Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4G2|Q6ZST1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F237L	ENST00000333279.2	37	c.709	CCDS1309.1	1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.690632	0.00738	.	.	ENSG00000183831	ENST00000333279	T	0.12465	2.68	5.99	-0.501	0.12008	.	0.473582	0.21405	N	0.075067	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44544	-0.9321	10	0.02654	T	1	-26.2819	5.0833	0.14668	0.6229:0.0:0.1104:0.2667	.	253	Q5TZF3	ANR45_HUMAN	L	237	ENSP00000331268:F237L	ENSP00000331268:F237L	F	-	1	0	ANKRD45	171860570	0.894000	0.30519	0.001000	0.08648	0.037000	0.13140	0.225000	0.17757	-0.252000	0.09528	-0.177000	0.13119	TTC	ANKRD45	-	NULL	ENSG00000183831		0.353	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD45	HGNC	protein_coding	OTTHUMT00000097580.2	174	0.00	0	A	NM_198493		173593947	173593947	-1	no_errors	ENST00000333279	ensembl	human	known	69_37n	missense	194	26.69	71	SNP	0.079	G
ANKRD49	54851	genome.wustl.edu	37	11	94230120	94230120	+	Intron	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:94230120delA	ENST00000544612.1	+	2	755				ANKRD49_ENST00000544253.1_Frame_Shift_Del_p.V87fs|ANKRD49_ENST00000540349.1_Frame_Shift_Del_p.V87fs|ANKRD49_ENST00000302755.4_Intron	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAATCGGGTAAAAAAAAAAA	0.393																																					Melanoma(113;823 1621 4352 9582 22033)	dbGAP											0										63,63,3768		1,3,58,3,54,1828	61.0	68.0	66.0			5.9	1.0	11		67	116,163,7783		4,1,107,2,158,3759	no	intron	ANKRD49	NM_017704.2		5,4,165,5,212,5587	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4607,3.2357,3.3874			94230120	179,226,11551	2089	4253	6342	-	-	-	SO:0001627	intron_variant	0			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.258+3A>-	11.37:g.94230120delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDF2|Q96JE5|Q9NXK7	Frame_Shift_Del	DEL	NULL	p.K90fs	ENST00000544612.1	37	c.261	CCDS8300.1	11																																																																																			ANKRD49	-	NULL	ENSG00000168876		0.393	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	HGNC	protein_coding	OTTHUMT00000396314.2	23	0.00	0	A	NM_017704		94230120	94230120	+1	no_errors	ENST00000534911	ensembl	human	known	69_37n	frame_shift_del	34	20.45	9	DEL	1.000	-
ANKRD49	54851	genome.wustl.edu	37	11	94231399	94231399	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:94231399G>A	ENST00000544612.1	+	3	918	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.G141S|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	141					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACTGTGGATGGCTGGACGCC	0.493																																					Melanoma(113;823 1621 4352 9582 22033)	dbGAP											0													117.0	105.0	109.0					11																	94231399		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.421G>A	11.37:g.94231399G>A	ENSP00000440396:p.Gly141Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G141S	ENST00000544612.1	37	c.421	CCDS8300.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.182562	0.94885	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000302755	T;T;T	0.79033	-1.23;-1.23;-1.23	6.07	6.07	0.98685	Ankyrin repeat-containing domain (4);	0.045119	0.85682	D	0.000000	D	0.83562	0.5281	M	0.83852	2.665	0.80722	D	1	P	0.49253	0.921	P	0.48524	0.58	D	0.85573	0.1235	10	0.66056	D	0.02	-18.8946	14.7663	0.69642	0.0684:0.0:0.9316:0.0	.	141	Q8WVL7	ANR49_HUMAN	S	141;100;141	ENSP00000440396:G141S;ENSP00000442449:G100S;ENSP00000303518:G141S	ENSP00000303518:G141S	G	+	1	0	ANKRD49	93871047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.308000	0.78929	2.885000	0.99019	0.655000	0.94253	GGC	ANKRD49	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168876		0.493	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	HGNC	protein_coding	OTTHUMT00000396314.2	73	0.00	0	G	NM_017704		94231399	94231399	+1	no_errors	ENST00000302755	ensembl	human	known	69_37n	missense	137	23.46	42	SNP	1.000	A
ANKZF1	55139	genome.wustl.edu	37	2	220098589	220098589	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:220098589C>T	ENST00000323348.5	+	8	1146	c.972C>T	c.(970-972)atC>atT	p.I324I	ANKZF1_ENST00000410034.3_Silent_p.I324I|ANKZF1_ENST00000409849.1_Silent_p.I114I|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	324						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGATATCCCCCTCGCCA	0.577																																						dbGAP											0													53.0	56.0	55.0					2																	220098589		1960	4145	6105	-	-	-	SO:0001819	synonymous_variant	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.972C>T	2.37:g.220098589C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVZ4	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I324	ENST00000323348.5	37	c.972	CCDS42821.1	2																																																																																			ANKZF1	-	NULL	ENSG00000163516		0.577	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	51	0.00	0	C	NM_018089		220098589	220098589	+1	no_errors	ENST00000323348	ensembl	human	known	69_37n	silent	41	21.15	11	SNP	1.000	T
ANP32D	23519	genome.wustl.edu	37	12	48866672	48866672	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:48866672A>G	ENST00000266594.1	+	1	225	c.225A>G	c.(223-225)agA>agG	p.R75R		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	75						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GCAGTAACAGAGCCTCAGTGG	0.383																																						dbGAP											0													94.0	94.0	94.0					12																	48866672		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.225A>G	12.37:g.48866672A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTC4	Silent	SNP	NULL	p.R75	ENST00000266594.1	37	c.225	CCDS31788.1	12																																																																																			ANP32D	-	NULL	ENSG00000139223		0.383	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32D	HGNC	protein_coding	OTTHUMT00000370058.1	104	0.00	0	A	NM_012404		48866672	48866672	+1	no_errors	ENST00000266594	ensembl	human	known	69_37n	silent	62	51.54	67	SNP	0.971	G
ANXA5	308	genome.wustl.edu	37	4	122593748	122593749	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:122593748_122593749insC	ENST00000296511.5	-	9	849_850	c.564_565insG	c.(562-567)gggacafs	p.T189fs	ANXA5_ENST00000501272.2_Frame_Shift_Ins_p.T129fs|ANXA5_ENST00000515017.1_Frame_Shift_Ins_p.T89fs	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	189					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TCTTCATCTGTCCCCCATTTAA	0.366																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.565dupG	4.37:g.122593753_122593753dupC	ENSP00000296511:p.Thr189fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Frame_Shift_Ins	INS	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.T188fs	ENST00000296511.5	37	c.565_564	CCDS3720.1	4																																																																																			ANXA5	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin	ENSG00000164111		0.366	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2	107	0.00	0	-	NM_001154		122593748	122593749	-1	no_errors	ENST00000296511	ensembl	human	known	69_37n	frame_shift_ins	135	11.76	18	INS	1.000:0.995	C
AP2A2	161	genome.wustl.edu	37	11	977175	977175	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:977175T>C	ENST00000448903.2	+	5	695	c.554T>C	c.(553-555)aTg>aCg	p.M185T	AP2A2_ENST00000534328.1_Missense_Mutation_p.M185T|AP2A2_ENST00000332231.5_Missense_Mutation_p.M185T	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	185					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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|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)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTTGTCCCCATGGGCGACTGG	0.597																																						dbGAP											0													60.0	69.0	66.0					11																	977175		2123	4232	6355	-	-	-	SO:0001583	missense	0			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.554T>C	11.37:g.977175T>C	ENSP00000413234:p.Met185Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.M185T	ENST00000448903.2	37	c.554	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	t	2.277	-0.365696	0.05069	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000534485;ENST00000329626	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	2.8	1.67	0.24075	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.172333	0.49305	N	0.000144	T	0.11580	0.0282	N	0.11064	0.09	0.35866	D	0.827848	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.12156	0.0;0.007;0.002	T	0.10291	-1.0636	10	0.37606	T	0.19	-3.1999	6.284	0.21023	0.0:0.2111:0.0:0.7889	.	78;185;185	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	T	25;185;185;185;185;185;175;58	ENSP00000437228:M25T;ENSP00000436059:M185T;ENSP00000413234:M185T;ENSP00000327694:M185T;ENSP00000435756:M175T	ENSP00000328024:M58T	M	+	2	0	AP2A2	967175	1.000000	0.71417	0.721000	0.30653	0.166000	0.22503	3.905000	0.56333	0.497000	0.27926	0.478000	0.44815	ATG	AP2A2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000183020		0.597	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	65	0.00	0	T	NM_012305		977175	977175	+1	no_errors	ENST00000332231	ensembl	human	known	69_37n	missense	34	41.38	24	SNP	1.000	C
APC	324	genome.wustl.edu	37	5	112179043	112179043	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:112179043delA	ENST00000457016.1	+	16	8132	c.7752delA	c.(7750-7752)gcafs	p.A2584fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.A2584fs|APC_ENST00000257430.4_Frame_Shift_Del_p.A2584fs			P25054	APC_HUMAN	adenomatous polyposis coli	2584	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.?(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)		GTGAAAAAGCAAAAAGTGAGG	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)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											67.0	70.0	69.0					5																	112179043		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0	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.7752delA	5.37:g.112179043delA	ENSP00000413133:p.Ala2584fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S2586fs	ENST00000457016.1	37	c.7752	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	33	0.00	0	A	NM_000038		112179043	112179043	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	frame_shift_del	30	31.25	15	DEL	1.000	-
API5	8539	genome.wustl.edu	37	11	43357466	43357466	+	Nonsense_Mutation	SNP	G	G	T	rs376582287		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:43357466G>T	ENST00000531273.1	+	13	1553	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*	API5_ENST00000378852.3_Nonsense_Mutation_p.G472*|API5_ENST00000455725.2_Nonsense_Mutation_p.G461*|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Nonsense_Mutation_p.G418*|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534600.1_Nonsense_Mutation_p.G472*|API5_ENST00000529334.1_3'UTR			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	472					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ATCTTCAGCAGGACCAAAAAG	0.413																																					Pancreas(1;98 122 5625 20895 49453)	dbGAP											0													77.0	77.0	77.0					11																	43357466		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1414G>T	11.37:g.43357466G>T	ENSP00000431391:p.Gly472*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Nonsense_Mutation	SNP	pfam_API5,superfamily_ARM-type_fold	p.G472*	ENST00000531273.1	37	c.1414	CCDS44572.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.617607	0.96649	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	.	.	.	5.16	5.16	0.70880	.	0.374025	0.30979	N	0.008491	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-35.4628	18.9924	0.92798	0.0:0.0:1.0:0.0	.	.	.	.	X	461;472;418;472;472;287	.	ENSP00000368129:G472X	G	+	1	0	API5	43314042	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	6.762000	0.74950	2.552000	0.86080	0.650000	0.86243	GGA	API5	-	pfam_API5,superfamily_ARM-type_fold	ENSG00000166181		0.413	API5-002	KNOWN	basic|CCDS	protein_coding	API5	HGNC	protein_coding	OTTHUMT00000389545.1	120	0.00	0	G	NM_006595		43357466	43357466	+1	no_errors	ENST00000531273	ensembl	human	known	69_37n	nonsense	119	32.77	58	SNP	1.000	T
APMAP	57136	genome.wustl.edu	37	20	24952186	24952187	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:24952186_24952187delCA	ENST00000217456.2	-	5	737_738	c.447_448delTG	c.(445-450)tgtgggfs	p.CG149fs	APMAP_ENST00000447138.1_Frame_Shift_Del_p.CG149fs|RNU6-1257P_ENST00000384625.1_RNA	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	149					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										AGGGGTCTCCCACACACAGGCT	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.447_448delTG	20.37:g.24952192_24952193delCA	ENSP00000217456:p.Cys149fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Frame_Shift_Del	DEL	pfam_Strictosidine_synth_cons-reg,pfam_SGL	p.C149fs	ENST00000217456.2	37	c.448_447	CCDS13166.1	20																																																																																			APMAP	-	NULL	ENSG00000101474		0.495	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APMAP	HGNC	protein_coding	OTTHUMT00000078380.2	48	0.00	0	CA	NM_020531		24952186	24952187	-1	no_errors	ENST00000217456	ensembl	human	known	69_37n	frame_shift_del	51	10.53	6	DEL	1.000:1.000	-
APOB	338	genome.wustl.edu	37	2	21236260	21236260	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:21236260G>T	ENST00000233242.1	-	25	4115	c.3988C>A	c.(3988-3990)Ctg>Atg	p.L1330M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1330					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)					CGAGATGGCAGATGGAATCCC	0.473																																						dbGAP											0													135.0	133.0	134.0					2																	21236260		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3988C>A	2.37:g.21236260G>T	ENSP00000233242:p.Leu1330Met	Somatic		WXS	Illumina GAIIx	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.L1330M	ENST00000233242.1	37	c.3988	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	7.145	0.582585	0.13749	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00816	5.66	5.44	1.33	0.21861	.	0.677771	0.13067	N	0.416394	T	0.01254	0.0041	M	0.63428	1.95	0.28820	N	0.897743	B	0.26195	0.144	B	0.18263	0.021	T	0.32877	-0.9890	10	0.40728	T	0.16	.	5.6933	0.17841	0.0694:0.1039:0.3174:0.5093	.	1330	P04114	APOB_HUMAN	M	1330	ENSP00000233242:L1330M	ENSP00000233242:L1330M	L	-	1	2	APOB	21089765	0.000000	0.05858	0.077000	0.20336	0.036000	0.12997	-0.675000	0.05227	0.295000	0.22570	-0.311000	0.09066	CTG	APOB	-	NULL	ENSG00000084674		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	77	0.00	0	G			21236260	21236260	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	111	18.98	26	SNP	0.000	T
APOBEC1	339	genome.wustl.edu	37	12	7805077	7805077	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:7805077G>T	ENST00000229304.4	-	3	419	c.399C>A	c.(397-399)gaC>gaA	p.D133E		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	133					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGTTAACAAGGTCCCTGAGAC	0.423																																					Pancreas(135;929 1826 4531 10527 41012)	dbGAP											0													76.0	70.0	72.0					12																	7805077		2203	4300	6503	-	-	-	SO:0001583	missense	0			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.399C>A	12.37:g.7805077G>T	ENSP00000229304:p.Asp133Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UE64|Q9UM71	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.D133E	ENST00000229304.4	37	c.399	CCDS8579.1	12	.	.	.	.	.	.	.	.	.	.	G	4.420	0.077615	0.08485	.	.	ENSG00000111701	ENST00000229304	T	0.62788	-0.0	4.88	-2.8	0.05823	APOBEC-like, C-terminal (1);	0.207936	0.33980	N	0.004373	T	0.37544	0.1007	L	0.46614	1.455	0.23537	N	0.997467	B	0.21688	0.059	B	0.23275	0.045	T	0.31503	-0.9941	10	0.02654	T	1	-26.9671	0.9917	0.01458	0.2993:0.2753:0.2856:0.1398	.	133	P41238	ABEC1_HUMAN	E	133	ENSP00000229304:D133E	ENSP00000229304:D133E	D	-	3	2	APOBEC1	7696344	0.954000	0.32549	0.709000	0.30452	0.220000	0.24768	0.139000	0.16036	-0.125000	0.11703	0.561000	0.74099	GAC	APOBEC1	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	ENSG00000111701		0.423	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC1	HGNC	protein_coding	OTTHUMT00000280523.1	31	0.00	0	G	NM_001644		7805077	7805077	-1	no_errors	ENST00000229304	ensembl	human	known	69_37n	missense	35	37.50	21	SNP	0.635	T
APPL2	55198	genome.wustl.edu	37	12	105605039	105605039	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:105605039A>G	ENST00000258530.3	-	5	567	c.342T>C	c.(340-342)ccT>ccC	p.P114P	APPL2_ENST00000539978.2_Silent_p.P71P|APPL2_ENST00000551662.1_Silent_p.P114P	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATTGTATGATAGGTAGAACCA	0.333																																						dbGAP											0													154.0	139.0	144.0					12																	105605039		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.342T>C	12.37:g.105605039A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom	p.P114	ENST00000258530.3	37	c.342	CCDS9101.1	12																																																																																			APPL2	-	NULL	ENSG00000136044		0.333	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	117	0.00	0	A	NM_018171		105605039	105605039	-1	no_errors	ENST00000551662	ensembl	human	known	69_37n	silent	90	41.94	65	SNP	0.385	G
ARFIP1	27236	genome.wustl.edu	37	4	153802234	153802234	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:153802234A>G	ENST00000451320.2	+	6	695	c.531A>G	c.(529-531)aaA>aaG	p.K177K	ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000356064.3_Silent_p.K145K|ARFIP1_ENST00000353617.2_Silent_p.K177K|ARFIP1_ENST00000405727.2_Silent_p.K145K|ARFIP1_ENST00000511289.1_3'UTR			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	177	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					ATATTTTAAAACTGGCTCAAA	0.403																																						dbGAP											0													67.0	70.0	69.0					4																	153802234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.531A>G	4.37:g.153802234A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2X4|Q3SYL4|Q9Y2X6	Silent	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.K177	ENST00000451320.2	37	c.531	CCDS34080.1	4																																																																																			ARFIP1	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	ENSG00000164144		0.403	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFIP1	HGNC	protein_coding	OTTHUMT00000365032.1	50	0.00	0	A	NM_014447		153802234	153802234	+1	no_errors	ENST00000353617	ensembl	human	known	69_37n	silent	53	11.67	7	SNP	1.000	G
ARHGEF10L	55160	genome.wustl.edu	37	1	17914103	17914103	+	Frame_Shift_Del	DEL	C	C	-	rs201247982		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:17914103delC	ENST00000361221.3	+	3	345	c.186delC	c.(184-186)gacfs	p.D62fs	ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.D62fs|ARHGEF10L_ENST00000375420.3_5'Flank|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.D62fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.D62fs	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	62						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGGACACAGACCCCCCACTGA	0.587																																						dbGAP											0									,	0,4266		0,0,2133	143.0	156.0	152.0		,	-0.6	0.0	1		152	1,8253		0,1,4126	no	frameshift,frameshift	ARHGEF10L	NM_018125.3,NM_001011722.2	,	0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,	17914103	1,12519	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.186delC	1.37:g.17914103delC	ENSP00000355060:p.Asp62fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Frame_Shift_Del	DEL	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.P64fs	ENST00000361221.3	37	c.186	CCDS182.1	1																																																																																			ARHGEF10L	-	NULL	ENSG00000074964		0.587	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	79	0.00	0	C	NM_018125		17914103	17914103	+1	no_errors	ENST00000361221	ensembl	human	known	69_37n	frame_shift_del	38	34.43	21	DEL	0.000	-
ARHGEF11	9826	genome.wustl.edu	37	1	156910105	156910105	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:156910105T>C	ENST00000361409.2	-	35	4249	c.3507A>G	c.(3505-3507)acA>acG	p.T1169T	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Silent_p.T1209T|ARHGEF11_ENST00000315174.8_Silent_p.T585T	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1169					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATCCAGGGATGTGGAAGGGC	0.612																																						dbGAP											0													99.0	81.0	87.0					1																	156910105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3507A>G	1.37:g.156910105T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.T1209	ENST00000361409.2	37	c.3627	CCDS1162.1	1																																																																																			ARHGEF11	-	NULL	ENSG00000132694		0.612	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	91	0.00	0	T	NM_198236		156910105	156910105	-1	no_errors	ENST00000368194	ensembl	human	known	69_37n	silent	120	14.29	20	SNP	0.027	C
ARHGEF17	9828	genome.wustl.edu	37	11	73021526	73021527	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:73021526_73021527insC	ENST00000263674.3	+	1	2193_2194	c.1843_1844insC	c.(1843-1845)gccfs	p.A615fs	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	615					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGAAGCGATGCCCCCCCTGGA	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1850dupC	11.37:g.73021533_73021533dupC	ENSP00000263674:p.Ala615fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.G618fs	ENST00000263674.3	37	c.1843_1844	CCDS8221.1	11																																																																																			ARHGEF17	-	NULL	ENSG00000110237		0.614	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	54	0.00	0	-	NM_014786		73021526	73021527	+1	no_errors	ENST00000263674	ensembl	human	known	69_37n	frame_shift_ins	41	39.71	27	INS	0.011:0.000	C
ARHGEF17	9828	genome.wustl.edu	37	11	73073179	73073179	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:73073179T>A	ENST00000263674.3	+	13	4939	c.4589T>A	c.(4588-4590)cTg>cAg	p.L1530Q		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1530					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGGTGTGCCTGCTGAGCCTG	0.706																																						dbGAP											0													26.0	26.0	26.0					11																	73073179		2198	4293	6491	-	-	-	SO:0001583	missense	0			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4589T>A	11.37:g.73073179T>A	ENSP00000263674:p.Leu1530Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.L1530Q	ENST00000263674.3	37	c.4589	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	T	35	5.439631	0.96168	.	.	ENSG00000110237	ENST00000263674	T	0.61980	0.06	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.74966	0.3786	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77742	-0.2474	10	0.87932	D	0	-13.0024	14.5501	0.68059	0.0:0.0:0.0:1.0	.	1530	Q96PE2	ARHGH_HUMAN	Q	1530	ENSP00000263674:L1530Q	ENSP00000263674:L1530Q	L	+	2	0	ARHGEF17	72750827	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.732000	0.84908	2.087000	0.62958	0.533000	0.62120	CTG	ARHGEF17	-	NULL	ENSG00000110237		0.706	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	19	0.00	0	T	NM_014786		73073179	73073179	+1	no_errors	ENST00000263674	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	1.000	A
ARHGEF9	23229	genome.wustl.edu	37	X	62944456	62944456	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:62944456G>T	ENST00000253401.6	-	2	945	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.Q28K|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.Q47K|ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000374870.4_Intron|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	49	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCGTCGATCTGGCCCCACCAC	0.532																																						dbGAP											0													154.0	98.0	117.0					X																	62944456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.145C>A	X.37:g.62944456G>T	ENSP00000253401:p.Gln49Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,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.Q49K	ENST00000253401.6	37	c.145	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384791	0.61956	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000374872	T;T;T	0.45668	0.89;0.89;0.89	5.55	5.55	0.83447	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000001	T	0.25754	0.0627	N	0.04655	-0.195	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.24006	0.05;0.05	T	0.08106	-1.0738	10	0.28530	T	0.3	.	16.9302	0.86188	0.0:0.0:1.0:0.0	.	47;49	B1AMR4;O43307	.;ARHG9_HUMAN	K	49;47;28	ENSP00000253401:Q49K;ENSP00000364012:Q47K;ENSP00000364006:Q28K	ENSP00000253401:Q49K	Q	-	1	0	ARHGEF9	62861181	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.529000	0.81952	2.310000	0.77875	0.550000	0.68814	CAG	ARHGEF9	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000131089		0.532	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	79	0.00	0	G			62944456	62944456	-1	no_errors	ENST00000253401	ensembl	human	known	69_37n	missense	114	20.28	29	SNP	1.000	T
ARID1B	57492	genome.wustl.edu	37	6	157502124	157502124	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:157502124A>G	ENST00000350026.5	+	11	3119	c.3118A>G	c.(3118-3120)Act>Gct	p.T1040A	ARID1B_ENST00000367148.1_Missense_Mutation_p.T1093A|ARID1B_ENST00000346085.5_Missense_Mutation_p.T1053A|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.T1035A	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1040					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)		CTCCACCACTACTGGGGAGAA	0.547																																						dbGAP											0													62.0	51.0	55.0					6																	157502124		2203	4296	6499	-	-	-	SO:0001583	missense	0			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.3118A>G	6.37:g.157502124A>G	ENSP00000055163:p.Thr1040Ala	Somatic		WXS	Illumina GAIIx	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.T1093A	ENST00000350026.5	37	c.3277	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757934	0.89843	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.76	5.76	0.90799	ARID/BRIGHT DNA-binding domain (2);	0.049348	0.85682	D	0.000000	T	0.39091	0.1065	L	0.61218	1.895	0.54753	D	0.999989	P;P;P;P	0.46952	0.887;0.819;0.887;0.887	P;B;P;P	0.47402	0.546;0.344;0.546;0.546	T	0.27773	-1.0064	10	0.44086	T	0.13	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	290;1040;1053;1035	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	A	1053;1040;1093;1035;510;562;515;107	ENSP00000344546:T1053A;ENSP00000055163:T1040A;ENSP00000356116:T1093A;ENSP00000275248:T1035A;ENSP00000412835:T562A;ENSP00000313006:T515A;ENSP00000383596:T107A	ENSP00000275248:T1035A	T	+	1	0	ARID1B	157543816	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.499000	0.81566	2.195000	0.70347	0.528000	0.53228	ACT	ARID1B	-	superfamily_ARID/BRIGHT_DNA-bd	ENSG00000049618		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	42	0.00	0	A	NM_020732		157502124	157502124	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	missense	58	23.68	18	SNP	1.000	G
ARSE	415	genome.wustl.edu	37	X	2852962	2852962	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:2852962T>C	ENST00000381134.3	-	11	1747	c.1681A>G	c.(1681-1683)Agg>Ggg	p.R561G	ARSE_ENST00000545496.1_Missense_Mutation_p.R586G|ARSE_ENST00000540563.1_Missense_Mutation_p.R516G	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	561					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGCCCAGCCTGTCCAGCTGC	0.602																																						dbGAP											0													46.0	34.0	38.0					X																	2852962		2203	4298	6501	-	-	-	SO:0001583	missense	0			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1681A>G	X.37:g.2852962T>C	ENSP00000370526:p.Arg561Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FT2|Q53FU8	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R586G	ENST00000381134.3	37	c.1756	CCDS14122.1	X	.	.	.	.	.	.	.	.	.	.	T	7.507	0.653957	0.14580	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.89875	-2.58;-2.58;-2.58	3.45	-3.19	0.05171	Alkaline-phosphatase-like, core domain (1);	0.939064	0.08996	N	0.863713	T	0.69006	0.3063	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.54728	-0.8250	10	0.23891	T	0.37	.	2.1269	0.03741	0.5454:0.0971:0.1222:0.2354	.	516;586;561	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	G	516;586;561	ENSP00000438198:R516G;ENSP00000441417:R586G;ENSP00000370526:R561G	ENSP00000370526:R561G	R	-	1	2	ARSE	2862962	0.000000	0.05858	0.002000	0.10522	0.607000	0.37147	-0.395000	0.07287	-1.055000	0.03209	0.235000	0.17854	AGG	ARSE	-	superfamily_Alkaline_phosphatase_core	ENSG00000157399		0.602	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	HGNC	protein_coding	OTTHUMT00000055643.1	91	0.00	0	T	NM_000047		2852962	2852962	-1	no_errors	ENST00000545496	ensembl	human	known	69_37n	missense	97	21.14	26	SNP	0.000	C
AS3MT	57412	genome.wustl.edu	37	10	104634356	104634356	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:104634356T>G	ENST00000369880.3	+	6	543	c.466T>G	c.(466-468)Tgt>Ggt	p.C156G	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	156					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		TAGATCAAACTGTGTTATTAA	0.418																																						dbGAP											0													137.0	130.0	132.0					10																	104634356		1909	4141	6050	-	-	-	SO:0001583	missense	0			AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.466T>G	10.37:g.104634356T>G	ENSP00000358896:p.Cys156Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel	p.C156G	ENST00000369880.3	37	c.466	CCDS41567.1	10	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253021	0.59212	.	.	ENSG00000214435	ENST00000369880	T	0.21932	1.98	4.66	4.66	0.58398	Methyltransferase type 11 (1);	0.046272	0.85682	D	0.000000	T	0.33235	0.0856	M	0.72353	2.195	0.38184	D	0.939704	B;P;P	0.35348	0.054;0.496;0.496	B;B;B	0.43728	0.16;0.429;0.429	T	0.51934	-0.8642	9	0.66056	D	0.02	-6.3664	13.3865	0.60799	0.0:0.0:0.0:1.0	.	156;156;156	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	G	156	ENSP00000358896:C156G	ENSP00000358896:C156G	C	+	1	0	AS3MT	104624346	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	5.244000	0.65400	1.852000	0.53769	0.379000	0.24179	TGT	AS3MT	-	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_Methyltransferase-rel	ENSG00000214435		0.418	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AS3MT	HGNC	protein_coding	OTTHUMT00000050107.1	133	0.00	0	T	NM_020682		104634356	104634356	+1	no_errors	ENST00000369880	ensembl	human	known	69_37n	missense	179	20.00	45	SNP	1.000	G
ASB1	51665	genome.wustl.edu	37	2	239353276	239353276	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:239353276T>C	ENST00000264607.4	+	4	1035	c.788T>C	c.(787-789)cTg>cCg	p.L263P	ASB1_ENST00000409297.1_Missense_Mutation_p.L162P	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	263					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GGAGCCAACCTGAATCTAGTG	0.562																																						dbGAP											0													78.0	84.0	82.0					2																	239353276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.788T>C	2.37:g.239353276T>C	ENSP00000264607:p.Leu263Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L263P	ENST00000264607.4	37	c.788	CCDS33416.1	2	.	.	.	.	.	.	.	.	.	.	T	15.77	2.930456	0.52866	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	T;T	0.64438	0.6;-0.1	5.91	5.91	0.95273	Ankyrin repeat-containing domain (2);	0.129916	0.53938	D	0.000050	T	0.44222	0.1283	N	0.10972	0.075	0.80722	D	1	B	0.18863	0.031	B	0.19946	0.027	T	0.37291	-0.9712	9	.	.	.	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	263	Q9Y576	ASB1_HUMAN	P	263;162	ENSP00000264607:L263P;ENSP00000387025:L162P	.	L	+	2	0	ASB1	239018015	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.203000	0.65174	2.254000	0.74563	0.533000	0.62120	CTG	ASB1	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000065802		0.562	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB1	HGNC	protein_coding	OTTHUMT00000328294.1	60	0.00	0	T	NM_001040445		239353276	239353276	+1	no_errors	ENST00000264607	ensembl	human	known	69_37n	missense	46	29.23	19	SNP	1.000	C
ASIC3	9311	genome.wustl.edu	37	7	150748931	150748931	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:150748931G>T	ENST00000349064.5	+	7	1447	c.1249G>T	c.(1249-1251)Gcc>Tcc	p.A417S	ASIC3_ENST00000357922.4_Missense_Mutation_p.A417S|ASIC3_ENST00000297512.8_Missense_Mutation_p.A417S	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	417					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CTTCTTTGAGGCCCTCAACTA	0.612																																						dbGAP											0													108.0	99.0	102.0					7																	150748931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1249G>T	7.37:g.150748931G>T	ENSP00000344838:p.Ala417Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.A417S	ENST00000349064.5	37	c.1249	CCDS5916.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.8|22.8	4.331829|4.331829	0.81801|0.81801	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512;ENST00000490540|ENST00000485929	T;T;T;T|.	0.64991|.	-0.13;-0.13;-0.13;-0.13|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.37857|.	U|.	0.001907|.	T|T	0.58793|0.58793	0.2147|0.2147	L|L	0.39326|0.39326	1.205|1.205	0.49389|0.49389	D|D	0.999781|0.999781	P;P;D|.	0.76494|.	0.914;0.537;0.999|.	D;B;D|.	0.83275|.	0.94;0.316;0.996|.	T|T	0.56129|0.56129	-0.8030|-0.8030	10|5	0.42905|.	T|.	0.14|.	-19.1613|-19.1613	15.1448|15.1448	0.72641|0.72641	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	417;417;417|.	Q9UHC3-2;Q9UHC3-3;Q9UHC3|.	.;.;ACCN3_HUMAN|.	S|S	417;417;417;48|42	ENSP00000350600:A417S;ENSP00000344838:A417S;ENSP00000297512:A417S;ENSP00000418361:A48S|.	ENSP00000297512:A417S|.	A|R	+|+	1|3	0|2	ACCN3|ACCN3	150379864|150379864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	9.858000|9.858000	0.99539|0.99539	2.147000|2.147000	0.66899|0.66899	0.586000|0.586000	0.80456|0.80456	GCC|AGG	ASIC3	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	ENSG00000213199		0.612	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	73	0.00	0	G	NM_004769		150748931	150748931	+1	no_errors	ENST00000297512	ensembl	human	known	69_37n	missense	66	19.51	16	SNP	1.000	T
ATG13	9776	genome.wustl.edu	37	11	46667426	46667426	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:46667426T>C	ENST00000434074.1	+	4	846	c.157T>C	c.(157-159)Tta>Cta	p.L53L	ATG13_ENST00000451945.1_Silent_p.L53L|ATG13_ENST00000359513.4_Silent_p.L53L|ATG13_ENST00000526508.1_Silent_p.L53L|ATG13_ENST00000528494.1_Silent_p.L53L|ATG13_ENST00000524625.1_Silent_p.L53L|ATG13_ENST00000312040.4_Silent_p.L53L|ATG13_ENST00000530500.1_5'UTR|ATG13_ENST00000529655.1_Silent_p.L53L	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	53					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCAGTTCAACTTAGCAATCAA	0.443																																						dbGAP											0													99.0	92.0	94.0					11																	46667426		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.157T>C	11.37:g.46667426T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	pfam_Autophagy-rel_p13	p.L53	ENST00000434074.1	37	c.157	CCDS44582.1	11																																																																																			ATG13	-	pfam_Autophagy-rel_p13	ENSG00000175224		0.443	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2	69	0.00	0	T	NM_014741		46667426	46667426	+1	no_errors	ENST00000312040	ensembl	human	known	69_37n	silent	92	23.33	28	SNP	0.991	C
ATHL1	80162	genome.wustl.edu	37	11	290715	290715	+	Frame_Shift_Del	DEL	G	G	-	rs149921679	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:290715delG	ENST00000409548.2	+	4	623	c.508delG	c.(508-510)gggfs	p.G171fs	RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|ATHL1_ENST00000409479.1_Frame_Shift_Del_p.G171fs|ATHL1_ENST00000409655.1_5'UTR	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	171					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGAGCAGCCCGGGGGGCCACA	0.637																																						dbGAP											0													29.0	32.0	31.0					11																	290715		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.508delG	11.37:g.290715delG	ENSP00000387185:p.Gly171fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X8|Q8TEG9|Q9H635	Frame_Shift_Del	DEL	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.P172fs	ENST00000409548.2	37	c.508	CCDS31322.2	11																																																																																			ATHL1	-	NULL	ENSG00000142102		0.637	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	15	0.00	0	G	NM_025092		290715	290715	+1	no_errors	ENST00000409548	ensembl	human	known	69_37n	frame_shift_del	13	30.00	6	DEL	0.999	-
ATG13	9776	genome.wustl.edu	37	11	46667526	46667526	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:46667526T>G	ENST00000434074.1	+	4	946	c.257T>G	c.(256-258)cTt>cGt	p.L86R	ATG13_ENST00000451945.1_Missense_Mutation_p.L86R|ATG13_ENST00000359513.4_Missense_Mutation_p.L86R|ATG13_ENST00000526508.1_Missense_Mutation_p.L86R|ATG13_ENST00000528494.1_Missense_Mutation_p.L86R|ATG13_ENST00000524625.1_Missense_Mutation_p.L86R|ATG13_ENST00000312040.4_Missense_Mutation_p.L86R|ATG13_ENST00000530500.1_Missense_Mutation_p.L7R|ATG13_ENST00000529655.1_Missense_Mutation_p.L86R	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	86					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GAGATTTCACTTAAGACTTCT	0.483																																						dbGAP											0													130.0	120.0	124.0					11																	46667526		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.257T>G	11.37:g.46667526T>G	ENSP00000400642:p.Leu86Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	pfam_Autophagy-rel_p13	p.L86R	ENST00000434074.1	37	c.257	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706001	0.89018	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	M	0.76170	2.325	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;0.999;0.999;0.997	T	0.81024	-0.1120	9	0.59425	D	0.04	-26.3147	15.6207	0.76805	0.0:0.0:0.0:1.0	.	7;86;86;86	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	R	86;86;86;86;86;86;7;86;86;86;86;86	.	ENSP00000310321:L86R	L	+	2	0	ATG13	46624102	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.965000	0.87945	2.086000	0.62901	0.460000	0.39030	CTT	ATG13	-	pfam_Autophagy-rel_p13	ENSG00000175224		0.483	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2	109	0.00	0	T	NM_014741		46667526	46667526	+1	no_errors	ENST00000312040	ensembl	human	known	69_37n	missense	119	25.16	40	SNP	1.000	G
ATP2B4	493	genome.wustl.edu	37	1	203690370	203690370	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:203690370A>G	ENST00000357681.5	+	17	3767	c.2644A>G	c.(2644-2646)Atg>Gtg	p.M882V	ATP2B4_ENST00000391954.2_Missense_Mutation_p.M882V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.M882V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.M870V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.M882V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	882					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAATCTGATCATGGACACTTT	0.522																																						dbGAP											0													113.0	112.0	112.0					1																	203690370		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2644A>G	1.37:g.203690370A>G	ENSP00000350310:p.Met882Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.M882V	ENST00000357681.5	37	c.2644	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240517	0.79912	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	4.7	4.7	0.59300	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000008	D	0.98349	0.9452	H	0.96142	3.775	0.80722	D	1	D;D;P	0.76494	0.987;0.999;0.92	P;D;P	0.72075	0.864;0.976;0.649	D	0.99548	1.0965	10	0.87932	D	0	-24.9844	14.1182	0.65169	1.0:0.0:0.0:0.0	.	882;882;882	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	882;882;870;882;882	ENSP00000350310:M882V;ENSP00000356187:M882V;ENSP00000356188:M870V;ENSP00000375816:M882V;ENSP00000340930:M882V	ENSP00000340930:M882V	M	+	1	0	ATP2B4	201956993	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.282000	0.95840	1.889000	0.54706	0.533000	0.62120	ATG	ATP2B4	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000058668		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	77	0.00	0	A	NM_001001396		203690370	203690370	+1	no_errors	ENST00000357681	ensembl	human	known	69_37n	missense	148	12.94	22	SNP	1.000	G
ATP5O	539	genome.wustl.edu	37	21	35275852	35275852	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:35275852C>A	ENST00000290299.2	-	7	836	c.620G>T	c.(619-621)aGg>aTg	p.R207M	AP000304.12_ENST00000429238.1_Intron	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	207					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						CCGCATAGCCCTGCCCAGCTT	0.413																																						dbGAP											0													78.0	73.0	75.0					21																	35275852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	850	protein-coding gene	gene with protein product	"""oligomycin sensitivity conferring protein"""	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.620G>T	21.37:g.35275852C>A	ENSP00000290299:p.Arg207Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N,prints_ATPase_F1-cplx_OSCP/dsu,tigrfam_ATPase_F1-cplx_OSCP/dsu	p.R207M	ENST00000290299.2	37	c.620	CCDS13634.1	21	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479293	0.44044	.	.	ENSG00000241837	ENST00000290299	T	0.46451	0.87	5.5	-0.575	0.11734	.	0.347587	0.35179	N	0.003391	T	0.50069	0.1594	M	0.69358	2.11	0.25315	N	0.989167	P	0.46457	0.878	P	0.53360	0.724	T	0.50996	-0.8761	10	0.59425	D	0.04	-8.9942	11.4977	0.50419	0.0:0.3354:0.0:0.6646	.	207	P48047	ATPO_HUMAN	M	207	ENSP00000290299:R207M	ENSP00000290299:R207M	R	-	2	0	ATP5O	34197722	0.673000	0.27539	0.012000	0.15200	0.419000	0.31324	-0.157000	0.10085	-0.447000	0.07138	-0.137000	0.14449	AGG	ATP5O	-	pfam_ATPase_F1-cplx_OSCP/dsu,tigrfam_ATPase_F1-cplx_OSCP/dsu	ENSG00000241837		0.413	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5O	HGNC	protein_coding	OTTHUMT00000139907.1	72	0.00	0	C	NM_001697		35275852	35275852	-1	no_errors	ENST00000290299	ensembl	human	known	69_37n	missense	107	24.65	35	SNP	0.921	A
ATP6AP1	537	genome.wustl.edu	37	X	153664078	153664078	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:153664078T>A	ENST00000369762.2	+	10	1315	c.1254T>A	c.(1252-1254)tgT>tgA	p.C418*	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	418					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CCAGCGACTGTGCCAGCTTCT	0.577																																						dbGAP											0													188.0	178.0	181.0					X																	153664078		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1254T>A	X.37:g.153664078T>A	ENSP00000358777:p.Cys418*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZKI4|Q8NBT4|Q9H0C7	Nonsense_Mutation	SNP	pfam_BIG/ATPase_V1_suS1	p.C418*	ENST00000369762.2	37	c.1254	CCDS35451.1	X	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127128	0.77549	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.4	-2.86	0.05717	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7837	12.7801	0.57472	0.0:0.5891:0.0:0.4109	.	.	.	.	X	418;242	.	ENSP00000358777:C418X	C	+	3	2	ATP6AP1	153317272	0.160000	0.22878	0.868000	0.34077	0.349000	0.29174	-0.564000	0.05936	-0.658000	0.05366	-0.335000	0.08231	TGT	ATP6AP1	-	pfam_BIG/ATPase_V1_suS1	ENSG00000071553		0.577	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	121	0.81	1	T	NM_001183		153664078	153664078	+1	no_errors	ENST00000369762	ensembl	human	known	69_37n	nonsense	139	11.32	18	SNP	0.996	A
ATXN7L1	222255	genome.wustl.edu	37	7	105516288	105516288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:105516288delT	ENST00000419735.3	-	2	265	c.220delA	c.(220-222)agcfs	p.S74fs	ATXN7L1_ENST00000318724.4_Frame_Shift_Del_p.S74fs|ATXN7L1_ENST00000478915.1_Intron	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	74										endometrium(1)|large_intestine(4)|lung(5)	10						ACCTCCCTGCTTTTTCCACCC	0.388																																						dbGAP											0													323.0	300.0	308.0					7																	105516288		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.220delA	7.37:g.105516288delT	ENSP00000410759:p.Ser74fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Q2|B4DTS1|Q8N2T0	Frame_Shift_Del	DEL	pfam_SCA7_dom	p.S74fs	ENST00000419735.3	37	c.220	CCDS47682.1	7																																																																																			ATXN7L1	-	NULL	ENSG00000146776		0.388	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	249	0.00	0	T			105516288	105516288	-1	no_errors	ENST00000419735	ensembl	human	known	69_37n	frame_shift_del	243	28.70	99	DEL	1.000	-
AWAT2	158835	genome.wustl.edu	37	X	69269746	69269746	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:69269746G>A	ENST00000276101.3	-	1	42	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	13					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AAGACATCCAGGGCAGTCTTG	0.552																																					NSCLC(80;1334 1436 9350 24214 26427)	dbGAP											0													145.0	102.0	116.0					X																	69269746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.37C>T	X.37:g.69269746G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE3|Q6P437	Silent	SNP	pfam_DAGAT	p.L13	ENST00000276101.3	37	c.37	CCDS35320.1	X																																																																																			AWAT2	-	NULL	ENSG00000147160		0.552	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	96	0.00	0	G	NM_001002254		69269746	69269746	-1	no_errors	ENST00000276101	ensembl	human	known	69_37n	silent	97	18.49	22	SNP	0.123	A
AZIN1	51582	genome.wustl.edu	37	8	103842085	103842085	+	Silent	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:103842085C>A	ENST00000337198.5	-	10	2147	c.984G>T	c.(982-984)ctG>ctT	p.L328L	AZIN1_ENST00000347770.4_Silent_p.L328L	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	328					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AGTCCTCAGACAGTTTACTTG	0.348																																						dbGAP											0													120.0	123.0	122.0					8																	103842085		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.984G>T	8.37:g.103842085C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCD5|Q6IBQ7|Q96D20	Silent	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.L328	ENST00000337198.5	37	c.984	CCDS6295.1	8																																																																																			AZIN1	-	pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase	ENSG00000155096		0.348	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZIN1	HGNC	protein_coding	OTTHUMT00000380133.1	116	0.00	0	C			103842085	103842085	-1	no_errors	ENST00000337198	ensembl	human	known	69_37n	silent	183	19.03	43	SNP	1.000	A
BAG6	7917	genome.wustl.edu	37	6	31608186	31608186	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:31608186T>C	ENST00000375964.6	-	22	3337	c.3024A>G	c.(3022-3024)gaA>gaG	p.E1008E	BAG6_ENST00000375976.4_Silent_p.E1002E|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Silent_p.E1038E|BAG6_ENST00000211379.5_Silent_p.E1002E|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000362049.6_Silent_p.E1002E	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1008					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGCCCAAGGTTCTGTCTCAG	0.562																																						dbGAP											0													120.0	142.0	134.0					6																	31608186		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3024A>G	6.37:g.31608186T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	NULL	p.N151S	ENST00000375964.6	37	c.452	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	T	7.721	0.697162	0.15106	.	.	ENSG00000204463	ENST00000441793	.	.	.	5.65	-3.87	0.04218	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60156	-0.7318	4	.	.	.	.	13.7347	0.62811	0.0:0.4947:0.0:0.5053	.	.	.	.	S	151	.	.	N	-	2	0	BAG6	31716165	0.875000	0.30112	0.929000	0.37066	0.997000	0.91878	-0.101000	0.10973	-0.548000	0.06199	0.533000	0.62120	AAC	BAG6	-	NULL	ENSG00000204463		0.562	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding		13	0.00	0	T	NM_080703		31608186	31608186	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000441793	ensembl	human	known	69_37n	missense	15	46.43	13	SNP	0.825	C
BAZ1B	9031	genome.wustl.edu	37	7	72903631	72903631	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:72903631A>C	ENST00000339594.4	-	6	1122	c.784T>G	c.(784-786)Tta>Gta	p.L262V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L262V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	262	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCAGCTCGTAATGCATTATGC	0.433																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													165.0	147.0	153.0					7																	72903631		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.784T>G	7.37:g.72903631A>C	ENSP00000342434:p.Leu262Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L262V	ENST00000339594.4	37	c.784	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676124	0.67928	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59638	0.25;0.25	5.88	0.483	0.16820	.	0.000000	0.64402	D	0.000001	T	0.57799	0.2078	L	0.32530	0.975	0.31229	N	0.696595	D	0.69078	0.997	D	0.78314	0.991	T	0.58188	-0.7680	10	0.16420	T	0.52	-9.6367	9.4982	0.39001	0.3355:0.0:0.6645:0.0	.	262	Q9UIG0	BAZ1B_HUMAN	V	262	ENSP00000342434:L262V;ENSP00000385442:L262V	ENSP00000342434:L262V	L	-	1	2	BAZ1B	72541567	0.911000	0.30947	0.140000	0.22221	0.963000	0.63663	1.552000	0.36244	0.085000	0.17107	-0.256000	0.11100	TTA	BAZ1B	-	NULL	ENSG00000009954		0.433	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	106	0.00	0	A	NM_032408		72903631	72903631	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	missense	149	15.34	27	SNP	0.317	C
BAZ2B	29994	genome.wustl.edu	37	2	160189132	160189132	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:160189132T>C	ENST00000392783.2	-	34	6357	c.5862A>G	c.(5860-5862)aaA>aaG	p.K1954K	BAZ2B_ENST00000343439.5_Silent_p.K1854K|BAZ2B_ENST00000355831.2_Silent_p.K1920K|BAZ2B_ENST00000392782.1_Silent_p.K1918K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1954					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						TATGACAGCCTTTGTCACAGC	0.388																																						dbGAP											0													121.0	112.0	115.0					2																	160189132		1886	4113	5999	-	-	-	SO:0001819	synonymous_variant	0			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.5862A>G	2.37:g.160189132T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	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.K1954	ENST00000392783.2	37	c.5862	CCDS2209.2	2																																																																																			BAZ2B	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000123636		0.388	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	93	0.00	0	T			160189132	160189132	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	silent	90	24.17	29	SNP	1.000	C
BCCIP	56647	genome.wustl.edu	37	10	127522354	127522354	+	Missense_Mutation	SNP	G	G	A	rs544090028		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:127522354G>A	ENST00000278100.6	+	6	625	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	BCCIP_ENST00000368759.5_Missense_Mutation_p.G205R|BCCIP_ENST00000429863.2_Missense_Mutation_p.G175R|BCCIP_ENST00000299130.3_Missense_Mutation_p.G205R	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	205	Interaction with CDKN1A.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAACTGGCGGGGGCACACAG	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16783	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													97.0	100.0	99.0					10																	127522354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.613G>A	10.37:g.127522354G>A	ENSP00000278100:p.Gly205Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	NULL	p.G205R	ENST00000278100.6	37	c.613	CCDS7651.1	10	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680459	0.47886	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.86	5.86	0.93980	.	0.161907	0.56097	D	0.000028	T	0.19805	0.0476	N	0.01048	-1.04	0.41878	D	0.990302	B;B;B;B;B	0.17268	0.004;0.014;0.021;0.02;0.008	B;B;B;B;B	0.21151	0.033;0.02;0.029;0.02;0.012	T	0.23013	-1.0200	10	0.16896	T	0.51	-4.4422	20.1858	0.98214	0.0:0.0:1.0:0.0	.	175;205;205;205;205	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	R	205;205;205;175;205	ENSP00000278100:G205R;ENSP00000299130:G205R;ENSP00000357748:G205R;ENSP00000394758:G175R	ENSP00000278100:G205R	G	+	1	0	BCCIP	127512344	1.000000	0.71417	0.614000	0.29051	0.492000	0.33523	6.244000	0.72391	2.777000	0.95525	0.591000	0.81541	GGG	BCCIP	-	NULL	ENSG00000107949		0.448	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BCCIP	HGNC	protein_coding	OTTHUMT00000050941.1	64	0.00	0	G			127522354	127522354	+1	no_errors	ENST00000368759	ensembl	human	known	69_37n	missense	65	30.85	29	SNP	1.000	A
BCKDHA	593	genome.wustl.edu	37	19	41920064	41920064	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:41920064T>C	ENST00000269980.2	+	4	852		c.e4+2		BCKDHA_ENST00000457836.2_Splice_Site|CTC-435M10.3_ENST00000540732.1_Splice_Site|BCKDHA_ENST00000595085.1_Splice_Site	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGAGGCAGGTACGTCTGTCC	0.567																																						dbGAP											0													62.0	44.0	50.0					19																	41920064		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.484+2T>C	19.37:g.41920064T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP47|E7EW46|Q16034|Q16472	Splice_Site	SNP	-	e4+2	ENST00000269980.2	37	c.484+2	CCDS12581.1	19	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189951	0.78789	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196;ENST00000541315	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4917	0.61399	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCKDHA;CTC-435M10.3	46611904	1.000000	0.71417	0.979000	0.43373	0.910000	0.53928	7.350000	0.79385	2.084000	0.62774	0.460000	0.39030	.	BCKDHA	-	-	ENSG00000248098		0.567	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	13	0.00	0	T	NM_000709	Intron	41920064	41920064	+1	no_errors	ENST00000269980	ensembl	human	known	69_37n	splice_site	13	27.78	5	SNP	1.000	C
BCL10	8915	genome.wustl.edu	37	1	85733330	85733330	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:85733330G>A	ENST00000370580.1	-	3	1419	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	228					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GAAACAGTACGTGATCTTAAG	0.368			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	dbGAP		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													64.0	66.0	65.0					1																	85733330		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.682C>T	1.37:g.85733330G>A	ENSP00000359612:p.Arg228Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUF1	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.R228C	ENST00000370580.1	37	c.682	CCDS704.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052272	0.75960	.	.	ENSG00000142867	ENST00000370580;ENST00000271015	.	.	.	5.52	5.52	0.82312	.	0.049546	0.85682	D	0.000000	T	0.63141	0.2486	L	0.53249	1.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.63192	0.912	T	0.65429	-0.6170	9	0.66056	D	0.02	-12.1108	14.6204	0.68579	0.0:0.0:0.8543:0.1457	.	228	O95999	BCL10_HUMAN	C	228	.	ENSP00000271015:R228C	R	-	1	0	BCL10	85505918	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.725000	0.61979	2.753000	0.94483	0.467000	0.42956	CGT	BCL10	-	NULL	ENSG00000142867		0.368	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL10	HGNC	protein_coding	OTTHUMT00000027612.1	48	0.00	0	G	NM_003921		85733330	85733330	-1	no_errors	ENST00000271015	ensembl	human	known	69_37n	missense	67	23.60	21	SNP	1.000	A
BCL2A1	597	genome.wustl.edu	37	15	80263166	80263166	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:80263166A>C	ENST00000267953.3	-	1	622	c.296T>G	c.(295-297)cTc>cGc	p.L99R	BCL2A1_ENST00000335661.6_Missense_Mutation_p.L99R	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	99					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TTTCTTGATGAGAATACCTTC	0.388																																						dbGAP											0													179.0	176.0	177.0					15																	80263166		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.296T>G	15.37:g.80263166A>C	ENSP00000267953:p.Leu99Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	pfam_Bcl2_BH,smart_Bcl2_BH,prints_Apop_reg_Bcl2Rel,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis	p.L99R	ENST00000267953.3	37	c.296	CCDS10312.1	15	.	.	.	.	.	.	.	.	.	.	A	14.16	2.452079	0.43531	.	.	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.31510	1.49;1.49	5.63	5.63	0.86233	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.106073	0.42420	D	0.000706	T	0.63070	0.2480	M	0.90309	3.105	0.37181	D	0.9035	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75789	-0.3194	10	0.87932	D	0	-25.9947	14.441	0.67318	1.0:0.0:0.0:0.0	.	99;99	Q86W13;Q16548	.;B2LA1_HUMAN	R	99	ENSP00000267953:L99R;ENSP00000335250:L99R	ENSP00000267953:L99R	L	-	2	0	BCL2A1	78050221	1.000000	0.71417	0.043000	0.18650	0.071000	0.16799	4.853000	0.62911	2.145000	0.66743	0.533000	0.62120	CTC	BCL2A1	-	pfam_Bcl2_BH,smart_Bcl2_BH,prints_Apop_reg_Bcl2Rel,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis	ENSG00000140379		0.388	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2A1	HGNC	protein_coding	OTTHUMT00000291372.1	83	0.00	0	A	NM_004049		80263166	80263166	-1	no_errors	ENST00000267953	ensembl	human	known	69_37n	missense	107	25.17	36	SNP	0.457	C
BEND2	139105	genome.wustl.edu	37	X	18192346	18192346	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:18192346G>A	ENST00000380033.4	-	12	1917	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N	BEND2_ENST00000380030.3_Silent_p.N504N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	595										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATGCAACACGGTTGGTACGTT	0.408																																						dbGAP											0													121.0	107.0	111.0					X																	18192346		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1785C>T	X.37:g.18192346G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	pfam_BEN_domain	p.N595	ENST00000380033.4	37	c.1785	CCDS14184.1	X																																																																																			BEND2	-	NULL	ENSG00000177324		0.408	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	101	0.00	0	G	NM_153346		18192346	18192346	-1	no_errors	ENST00000380033	ensembl	human	known	69_37n	silent	98	31.25	45	SNP	0.001	A
BEND2	139105	genome.wustl.edu	37	X	18221772	18221772	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:18221772A>G	ENST00000380033.4	-	5	888	c.756T>C	c.(754-756)aaT>aaC	p.N252N	BEND2_ENST00000380030.3_Silent_p.N252N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	252										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTGTAGTAGCATTGGCAAATG	0.448																																						dbGAP											0													169.0	136.0	147.0					X																	18221772		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.756T>C	X.37:g.18221772A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	pfam_BEN_domain	p.N252	ENST00000380033.4	37	c.756	CCDS14184.1	X																																																																																			BEND2	-	NULL	ENSG00000177324		0.448	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	103	0.96	1	A	NM_153346		18221772	18221772	-1	no_errors	ENST00000380033	ensembl	human	known	69_37n	silent	135	23.73	42	SNP	0.000	G
BEND6	221336	genome.wustl.edu	37	6	56879963	56879963	+	Missense_Mutation	SNP	T	T	A	rs375033965		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:56879963T>A	ENST00000370746.3	+	4	600	c.331T>A	c.(331-333)Ttg>Atg	p.L111M	BEND6_ENST00000545789.1_Missense_Mutation_p.L13M|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	111					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GTTTGAAGAATTGGTTGGTAT	0.423																																						dbGAP											0													104.0	100.0	101.0					6																	56879963		1933	4130	6063	-	-	-	SO:0001583	missense	0			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.331T>A	6.37:g.56879963T>A	ENSP00000359782:p.Leu111Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	pfam_BEN_domain	p.L111M	ENST00000370746.3	37	c.331	CCDS43476.1	6	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628760	0.67015	.	.	ENSG00000151917	ENST00000322055;ENST00000370746;ENST00000545789	.	.	.	4.92	-4.27	0.03744	.	0.000000	0.44483	D	0.000442	T	0.29556	0.0737	L	0.27053	0.805	0.29405	N	0.861645	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.41538	-0.9503	9	0.87932	D	0	-9.7709	11.2849	0.49216	0.0:0.5253:0.0:0.4747	.	111;13	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	M	111;111;13	.	ENSP00000322773:L111M	L	+	1	2	BEND6	56987922	0.024000	0.19004	0.941000	0.38009	0.912000	0.54170	-0.350000	0.07721	-0.679000	0.05217	-0.621000	0.04028	TTG	BEND6	-	NULL	ENSG00000151917		0.423	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND6	HGNC	protein_coding	OTTHUMT00000041032.4	111	0.00	0	T	NM_152731		56879963	56879963	+1	no_errors	ENST00000370746	ensembl	human	known	69_37n	missense	113	44.06	89	SNP	0.927	A
BEX2	84707	genome.wustl.edu	37	X	102564877	102564877	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:102564877T>G	ENST00000372677.3	-	3	295	c.28A>C	c.(28-30)Aac>Cac	p.N10H	BEX2_ENST00000372674.1_Missense_Mutation_p.N10H|BEX2_ENST00000536889.1_Missense_Mutation_p.N42H	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	10					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						ATGAGATTGTTTAACGCTCGT	0.453																																						dbGAP											0													63.0	56.0	58.0					X																	102564877		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.28A>C	X.37:g.102564877T>G	ENSP00000361762:p.Asn10His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R574|D3DXA2|F5H7H5|Q5JVV9	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.N42H	ENST00000372677.3	37	c.124	CCDS14505.1	X	.	.	.	.	.	.	.	.	.	.	T	9.202	1.028847	0.19512	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674;ENST00000449185	T;T;T;T	0.10668	2.88;2.85;2.88;2.85	3.82	-0.288	0.12855	.	0.328597	0.22223	N	0.062930	T	0.10078	0.0247	L	0.29908	0.895	0.09310	N	1	P;P	0.49447	0.553;0.924	B;P	0.51135	0.096;0.66	T	0.15009	-1.0452	10	0.59425	D	0.04	.	4.2238	0.10570	0.0:0.1215:0.4139:0.4646	.	10;42	Q9BXY8;F5H7H5	BEX2_HUMAN;.	H	10;42;10;10	ENSP00000361762:N10H;ENSP00000442521:N42H;ENSP00000361759:N10H;ENSP00000394915:N10H	ENSP00000361759:N10H	N	-	1	0	BEX2	102451533	0.040000	0.19996	0.000000	0.03702	0.020000	0.10135	0.411000	0.21115	-0.131000	0.11578	-0.360000	0.07572	AAC	BEX2	-	NULL	ENSG00000133134		0.453	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BEX2	HGNC	protein_coding	OTTHUMT00000057702.1	50	0.00	0	T	NM_032621		102564877	102564877	-1	no_errors	ENST00000536889	ensembl	human	known	69_37n	missense	63	10.00	7	SNP	0.000	G
BGN	633	genome.wustl.edu	37	X	152773843	152773843	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:152773843G>A	ENST00000331595.4	+	8	1233	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	349					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)					AGGTGCAGCCGGCCACTTTCC	0.617																																						dbGAP											0													93.0	76.0	82.0					X																	152773843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1047G>A	X.37:g.152773843G>A		Somatic		WXS	Illumina GAIIx	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.P349	ENST00000331595.4	37	c.1047	CCDS14721.1	X																																																																																			BGN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000182492		0.617	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	46	0.00	0	G	NM_001711		152773843	152773843	+1	no_errors	ENST00000331595	ensembl	human	known	69_37n	silent	41	25.45	14	SNP	0.018	A
GLUD1P3	2749	genome.wustl.edu	37	10	75488206	75488208	+	RNA	DEL	TCT	TCT	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:75488206_75488208delTCT	ENST00000507952.1	+	0	0				RP11-464F9.1_ENST00000399449.3_RNA|RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA					glutamate dehydrogenase 1 pseudogene 3																		CTTCCAGGCATCTTCTTCGTCTC	0.448																																						dbGAP											0																																										-	-	-			0			X66316		10q22.2	2012-04-17	2010-01-18	2010-01-18	ENSG00000250959	ENSG00000250959			4338	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 3"", ""chromosome 10 open reading frame 102"""	GLUDP3, C10orf102		8486350	Standard	NR_048575		Approved	Em:AC022400.11	uc031pvx.1		OTTHUMG00000018477		10.37:g.75488209_75488211delTCT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000507952.1	37	NULL		10																																																																																			RP11-464F9.1	-	-	ENSG00000242288		0.448	GLUD1P3-002	KNOWN	basic|exp_conf	processed_transcript	BMS1P4	Clone_based_vega_gene	pseudogene	OTTHUMT00000416578.1	47	0.00	0	TCT			75488206	75488208	-1	no_errors	ENST00000399449	ensembl	human	known	69_37n	rna	61	19.48	15	DEL	1.000:1.000:0.997	-
BNC1	646	genome.wustl.edu	37	15	83935797	83935798	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:83935797_83935798insG	ENST00000345382.2	-	3	310_311	c.225_226insC	c.(223-228)cccatgfs	p.M76fs	BNC1_ENST00000569704.1_Frame_Shift_Ins_p.M69fs|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	76					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	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)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTTGGATACATGGGGGGGATCC	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.226dupC	15.37:g.83935804_83935804dupG	ENSP00000307041:p.Met76fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15840	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M75fs	ENST00000345382.2	37	c.226_225	CCDS10324.1	15																																																																																			BNC1	-	NULL	ENSG00000169594		0.421	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	57	0.00	0	-	NM_001717		83935797	83935798	-1	no_errors	ENST00000345382	ensembl	human	known	69_37n	frame_shift_ins	60	20.00	15	INS	0.001:0.001	G
BRAP	8315	genome.wustl.edu	37	12	112117118	112117118	+	Missense_Mutation	SNP	A	A	T	rs373794920		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:112117118A>T	ENST00000327551.6	-	4	520	c.380T>A	c.(379-381)gTg>gAg	p.V127E	BRAP_ENST00000539060.1_Missense_Mutation_p.V16E|BRAP_ENST00000419234.4_Missense_Mutation_p.V157E			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTGCGCCGCACATCTTCTTT	0.373																																					Pancreas(146;846 1904 7830 25130 26065)	dbGAP											0													63.0	57.0	59.0					12																	112117118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.380T>A	12.37:g.112117118A>T	ENSP00000330813:p.Val127Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.V157E	ENST00000327551.6	37	c.470		12	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245896	0.59103	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551	T;T;T	0.42900	0.96;0.96;0.97	5.28	5.28	0.74379	BRCA1-associated 2 (2);	0.055521	0.64402	D	0.000001	T	0.47764	0.1463	L	0.60455	1.87	0.80722	D	1	D;B	0.56287	0.975;0.001	P;B	0.53450	0.726;0.007	T	0.47623	-0.9103	10	0.02654	T	1	-13.1735	15.4832	0.75545	1.0:0.0:0.0:0.0	.	16;157	B4DRM1;Q7Z569	.;BRAP_HUMAN	E	157;16;127	ENSP00000403524:V157E;ENSP00000441659:V16E;ENSP00000330813:V127E	ENSP00000330813:V127E	V	-	2	0	BRAP	110601501	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.050000	0.76620	2.126000	0.65437	0.323000	0.21402	GTG	BRAP	-	pfam_BRAP2	ENSG00000089234		0.373	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	55	0.00	0	A			112117118	112117118	-1	no_errors	ENST00000419234	ensembl	human	known	69_37n	missense	43	42.86	33	SNP	1.000	T
BRD4	23476	genome.wustl.edu	37	19	15366911	15366911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:15366911delT	ENST00000263377.2	-	9	1936	c.1715delA	c.(1714-1716)aagfs	p.K572fs	BRD4_ENST00000360016.5_Frame_Shift_Del_p.K572fs|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Frame_Shift_Del_p.K572fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	572	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)			tttcttcgtctttttaggagg	0.438			T	C15orf55	lethal midline carcinoma of young people																																	dbGAP		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													276.0	245.0	255.0					19																	15366911		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			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.1715delA	19.37:g.15366911delT	ENSP00000263377:p.Lys572fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K572fs	ENST00000263377.2	37	c.1715	CCDS12328.1	19																																																																																			BRD4	-	NULL	ENSG00000141867		0.438	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	493	0.00	0	T	NM_058243		15366911	15366911	-1	no_errors	ENST00000263377	ensembl	human	known	69_37n	frame_shift_del	555	21.67	156	DEL	1.000	-
BRWD3	254065	genome.wustl.edu	37	X	79939568	79939568	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:79939568T>C	ENST00000373275.4	-	37	4390	c.4174A>G	c.(4174-4176)Aag>Gag	p.K1392E	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1392	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGAACATCCTTATAAAATTCC	0.348																																						dbGAP											0													86.0	81.0	83.0					X																	79939568		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4174A>G	X.37:g.79939568T>C	ENSP00000362372:p.Lys1392Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.K1392E	ENST00000373275.4	37	c.4174	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	19.61	3.859281	0.71834	.	.	ENSG00000165288	ENST00000373275	T	0.32023	1.47	4.66	3.49	0.39957	Bromodomain (6);	0.200822	0.52532	D	0.000079	T	0.46619	0.1402	L	0.61036	1.89	0.34837	D	0.740256	D	0.76494	0.999	D	0.76575	0.988	T	0.55933	-0.8062	9	.	.	.	-3.2765	7.0642	0.25143	0.0:0.1792:0.0:0.8208	.	1392	Q6RI45	BRWD3_HUMAN	E	1392	ENSP00000362372:K1392E	.	K	-	1	0	BRWD3	79826224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.809000	0.69172	0.638000	0.30545	0.408000	0.27601	AAG	BRWD3	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000165288		0.348	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	97	0.00	0	T	NM_153252		79939568	79939568	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	127	22.09	36	SNP	1.000	C
BTBD7	55727	genome.wustl.edu	37	14	93761193	93761193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:93761193delT	ENST00000334746.5	-	3	480	c.173delA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		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)		AGAGGTTCTCTTTTTTTTGTC	0.438																																						dbGAP											4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	large_intestine(4)											102.0	109.0	107.0					14																	93761193		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			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.173delA	14.37:g.93761193delT	ENSP00000335615:p.Lys58fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.K58fs	ENST00000334746.5	37	c.173	CCDS32146.1	14																																																																																			BTBD7	-	NULL	ENSG00000011114		0.438	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	41	0.00	0	T	NM_001002860		93761193	93761193	-1	no_errors	ENST00000334746	ensembl	human	known	69_37n	frame_shift_del	47	21.67	13	DEL	1.000	-
BTBD9	114781	genome.wustl.edu	37	6	38562052	38562052	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:38562052A>G	ENST00000481247.1	-	3	388	c.237T>C	c.(235-237)ccT>ccC	p.P79P	BTBD9_ENST00000408958.1_Silent_p.P11P|BTBD9_ENST00000403056.1_Silent_p.P79P|BTBD9_ENST00000419706.2_Silent_p.P20P|BTBD9_ENST00000314100.6_Silent_p.P11P	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TGTCTTGGAGAGGAATTTCTG	0.468																																						dbGAP											0													95.0	100.0	99.0					6																	38562052		2060	4218	6278	-	-	-	SO:0001819	synonymous_variant	0				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.237T>C	6.37:g.38562052A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q494V9|Q494W1|Q96M00	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.P79	ENST00000481247.1	37	c.237	CCDS47418.1	6																																																																																			BTBD9	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000183826		0.468	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	54	0.00	0	A	NM_152733		38562052	38562052	-1	no_errors	ENST00000403056	ensembl	human	known	69_37n	silent	87	21.62	24	SNP	0.977	G
BUB1	699	genome.wustl.edu	37	2	111417597	111417597	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:111417597T>C	ENST00000302759.6	-	11	1352	c.1234A>G	c.(1234-1236)Act>Gct	p.T412A	BUB1_ENST00000535254.1_Missense_Mutation_p.T392A|BUB1_ENST00000409311.1_Missense_Mutation_p.T412A	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	412					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATTCATGAGTACTCTTATTC	0.418																																						dbGAP											0													91.0	94.0	93.0					2																	111417597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1234A>G	2.37:g.111417597T>C	ENSP00000302530:p.Thr412Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.T412A	ENST00000302759.6	37	c.1234	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498068	0.26861	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30182	2.28;1.54;2.54	5.95	-1.33	0.09172	.	1.226480	0.05245	N	0.512911	T	0.20740	0.0499	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.22452	-1.0216	10	0.07644	T	0.81	-2.2737	4.6848	0.12752	0.1407:0.3429:0.0:0.5165	.	392;412;412	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	A	392;412;412;412	ENSP00000441013:T392A;ENSP00000386701:T412A;ENSP00000302530:T412A	ENSP00000302530:T412A	T	-	1	0	BUB1	111134070	0.052000	0.20516	0.009000	0.14445	0.980000	0.70556	0.209000	0.17435	-0.179000	0.10654	0.533000	0.62120	ACT	BUB1	-	NULL	ENSG00000169679		0.418	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	120	0.00	0	T	NM_004336		111417597	111417597	-1	no_errors	ENST00000302759	ensembl	human	known	69_37n	missense	106	30.13	47	SNP	0.002	C
C11orf58	10944	genome.wustl.edu	37	11	16766217	16766217	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:16766217A>G	ENST00000228136.4	+	2	511	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	C11orf58_ENST00000527893.1_3'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.M45V|C11orf58_ENST00000422258.2_Start_Codon_SNP_p.M1V			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	45										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						CTTGAGACTTATGGGTGCAGG	0.353																																						dbGAP											0													111.0	102.0	105.0					11																	16766217		2200	4294	6494	-	-	-	SO:0001583	missense	0			BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.133A>G	11.37:g.16766217A>G	ENSP00000228136:p.Met45Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD28	Missense_Mutation	SNP	NULL	p.M45V	ENST00000228136.4	37	c.133	CCDS7822.1	11	.	.	.	.	.	.	.	.	.	.	A	16.09	3.024220	0.54683	.	.	ENSG00000110696	ENST00000228136;ENST00000422258;ENST00000528634;ENST00000525684	.	.	.	5.34	5.34	0.76211	.	0.038595	0.85682	D	0.000000	T	0.67277	0.2876	M	0.73962	2.25	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.67292	-0.5707	9	0.72032	D	0.01	.	13.8426	0.63449	1.0:0.0:0.0:0.0	.	45	O00193	SMAP_HUMAN	V	45;1;45;45	.	ENSP00000228136:M45V	M	+	1	0	C11orf58	16722793	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.296000	0.78790	2.141000	0.66446	0.477000	0.44152	ATG	C11orf58	-	NULL	ENSG00000110696		0.353	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf58	HGNC	protein_coding	OTTHUMT00000387023.2	76	0.00	0	A	NM_014267		16766217	16766217	+1	no_errors	ENST00000228136	ensembl	human	known	69_37n	missense	121	23.42	37	SNP	0.999	G
PLET1	349633	genome.wustl.edu	37	11	112119652	112119652	+	Missense_Mutation	SNP	A	A	C	rs7128270	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:112119652A>C	ENST00000338832.2	-	4	764	c.494T>G	c.(493-495)tTc>tGc	p.F165C	AP002884.1_ENST00000401135.1_RNA	NM_001145024.1	NP_001138496.1	Q6UQ28	PLET1_HUMAN		165	Thr-rich.				cell differentiation (GO:0030154)|negative regulation of cell-matrix adhesion (GO:0001953)|positive regulation of cell migration (GO:0030335)|wound healing, spreading of epidermal cells (GO:0035313)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)				endometrium(2)	2						GAAAGGCTTGAAGGCTGAGCT	0.517																																						dbGAP											0													69.0	66.0	67.0					11																	112119652		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000338832.2:c.494T>G	11.37:g.112119652A>C	ENSP00000341412:p.Phe165Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UQ24|Q6UQ25|Q6UQ27	Missense_Mutation	SNP	NULL	p.F165C	ENST00000338832.2	37	c.494		11	.	.	.	.	.	.	.	.	.	.	A	4.507	0.094067	0.08632	.	.	ENSG00000188771	ENST00000338832	T	0.44482	0.92	1.58	-1.77	0.07982	.	.	.	.	.	T	0.15522	0.0374	N	0.08118	0	0.80722	P	0.0	B	0.33637	0.42	B	0.25987	0.065	T	0.12167	-1.0558	8	0.38643	T	0.18	.	1.7172	0.02904	0.3206:0.0:0.386:0.2934	.	165	Q6UQ28	PLET1_HUMAN	C	165	ENSP00000341412:F165C	ENSP00000341412:F165C	F	-	2	0	C11orf34	111624862	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.379000	0.07437	-0.440000	0.07211	-0.417000	0.06048	TTC	C11orf34	-	NULL	ENSG00000188771		0.517	C11orf34-201	KNOWN	basic|appris_principal	protein_coding	C11orf34	HGNC	protein_coding		59	0.00	0	A			112119652	112119652	-1	no_errors	ENST00000338832	ensembl	human	known	69_37n	missense	51	41.38	36	SNP	0.000	C
TMEM260	54916	genome.wustl.edu	37	14	57052487	57052487	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:57052487T>C	ENST00000261556.6	+	3	323	c.201T>C	c.(199-201)caT>caC	p.H67H	TMEM260_ENST00000538838.1_Silent_p.H67H|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	67						integral component of membrane (GO:0016021)											AGGTTGCCCATCCTCCTGGCT	0.443																																						dbGAP											0													235.0	201.0	213.0					14																	57052487		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.201T>C	14.37:g.57052487T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAN4|B3KPF5|Q86XE1	Silent	SNP	pfam_DUF2723	p.H67	ENST00000261556.6	37	c.201	CCDS9727.2	14																																																																																			C14orf101	-	pfam_DUF2723	ENSG00000070269		0.443	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf101	HGNC	protein_coding	OTTHUMT00000276924.1	183	0.54	1	T	NM_017799		57052487	57052487	+1	no_errors	ENST00000261556	ensembl	human	known	69_37n	silent	139	37.67	84	SNP	1.000	C
C15orf39	56905	genome.wustl.edu	37	15	75500456	75500456	+	Silent	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:75500456T>A	ENST00000360639.2	+	2	2387	c.2067T>A	c.(2065-2067)atT>atA	p.I689I	C15orf39_ENST00000394987.4_Silent_p.I689I|C15orf39_ENST00000567617.1_Silent_p.I689I			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	689						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGGGCCCATTGGACTGCGGA	0.672																																						dbGAP											0													70.0	77.0	75.0					15																	75500456		2197	4295	6492	-	-	-	SO:0001819	synonymous_variant	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2067T>A	15.37:g.75500456T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.W558R	ENST00000360639.2	37	c.1672	CCDS10276.1	15																																																																																			C15orf39	-	NULL	ENSG00000167173		0.672	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	95	0.00	0	T	NM_015492		75500456	75500456	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000565074	ensembl	human	known	69_37n	missense	50	46.32	44	SNP	0.007	A
ARPIN	348110	genome.wustl.edu	37	15	90454024	90454024	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:90454024T>C	ENST00000357484.5	-	2	240	c.120A>G	c.(118-120)gaA>gaG	p.E40E	C15orf38-AP3S2_ENST00000398333.3_Silent_p.E40E|C15orf38_ENST00000460685.1_5'UTR	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		40					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CATCGATCAGTTCTCCCTCCA	0.517																																						dbGAP											0													116.0	109.0	111.0					15																	90454024		2097	4213	6310	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000357484.5:c.120A>G	15.37:g.90454024T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E2QRD5	Silent	SNP	pfam_UPF0552	p.E40	ENST00000357484.5	37	c.120	CCDS42080.1	15																																																																																			C15orf38	-	pfam_UPF0552	ENSG00000242498		0.517	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf38	HGNC	protein_coding	OTTHUMT00000335629.1	77	0.00	0	T			90454024	90454024	-1	no_errors	ENST00000357484	ensembl	human	known	69_37n	silent	72	41.46	51	SNP	0.182	C
C17orf64	124773	genome.wustl.edu	37	17	58506842	58506842	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:58506842G>A	ENST00000269127.4	+	5	633	c.549G>A	c.(547-549)cgG>cgA	p.R183R		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	183										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGAAGGAGCGGCTGTCCAACA	0.607																																						dbGAP											0													54.0	52.0	52.0					17																	58506842		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.549G>A	17.37:g.58506842G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IY87	Silent	SNP	NULL	p.R183	ENST00000269127.4	37	c.549	CCDS32698.2	17																																																																																			C17orf64	-	NULL	ENSG00000141371		0.607	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C17orf64	HGNC	protein_coding	OTTHUMT00000347743.1	35	0.00	0	G	NM_181707		58506842	58506842	+1	no_errors	ENST00000269127	ensembl	human	known	69_37n	silent	22	47.62	20	SNP	1.000	A
C17orf62	79415	genome.wustl.edu	37	17	80403805	80403805	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:80403805A>C	ENST00000437807.2	-	6	550	c.233T>G	c.(232-234)gTt>gGt	p.V78G	C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000306645.5_Missense_Mutation_p.V78G|C17orf62_ENST00000434650.2_Missense_Mutation_p.V64G|C17orf62_ENST00000577436.1_Missense_Mutation_p.V64G|C17orf62_ENST00000578913.1_Missense_Mutation_p.V78G|C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000585080.1_Missense_Mutation_p.V78G|C17orf62_ENST00000577732.1_Missense_Mutation_p.V78G|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.V78G|C17orf62_ENST00000583617.1_Missense_Mutation_p.V78G|C17orf62_ENST00000578919.1_Missense_Mutation_p.V78G	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	78						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTTCAAAACAACCTTCCCTGT	0.597																																						dbGAP											0													135.0	101.0	112.0					17																	80403805		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.233T>G	17.37:g.80403805A>C	ENSP00000388909:p.Val78Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.V78G	ENST00000437807.2	37	c.233	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	A	4.896	0.166552	0.09339	.	.	ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	4.85	2.63	0.31362	.	.	.	.	.	T	0.48040	0.1478	L	0.60455	1.87	0.80722	D	1	B;P	0.42296	0.419;0.775	B;B	0.42282	0.168;0.382	T	0.42816	-0.9429	8	0.87932	D	0	.	7.1013	0.25338	0.7485:0.0:0.2515:0.0	.	64;78	E1B6X3;Q9BQA9	.;CQ062_HUMAN	G	78;78;64	.	ENSP00000307765:V78G	V	-	2	0	C17orf62	77997094	0.655000	0.27376	0.352000	0.25734	0.269000	0.26545	3.599000	0.54045	0.236000	0.21180	0.459000	0.35465	GTT	C17orf62	-	NULL	ENSG00000178927		0.597	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	74	0.00	0	A	NM_001033046		80403805	80403805	-1	no_errors	ENST00000306645	ensembl	human	known	69_37n	missense	105	24.29	34	SNP	0.628	C
C1RL	51279	genome.wustl.edu	37	12	7249128	7249129	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:7249128_7249129delCA	ENST00000266542.4	-	6	1414_1415	c.1322_1323delTG	c.(1321-1323)gtgfs	p.V442fs	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	442	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGTCCCATACCACATAGACGCT	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1322_1323delTG	12.37:g.7249130_7249131delCA	ENSP00000266542:p.Val442fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GX9	Frame_Shift_Del	DEL	pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V441fs	ENST00000266542.4	37	c.1323_1322	CCDS8573.1	12																																																																																			C1RL	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000139178		0.550	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	HGNC	protein_coding	OTTHUMT00000398367.1	81	0.00	0	CA	NM_016546		7249128	7249129	-1	no_errors	ENST00000266542	ensembl	human	known	69_37n	frame_shift_del	75	26.92	28	DEL	0.835:0.797	-
CFAP74	85452	genome.wustl.edu	37	1	1904475	1904475	+	IGR	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:1904475T>C								TMEM52 (53763 upstream) : C1orf222 (15087 downstream)																							CTTCTGGGTGTTCAGGGACTT	0.642																																						dbGAP											0													37.0	41.0	39.0					1																	1904475		1953	4138	6091	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.1904475T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.N229S		37	c.686		1	.	.	.	.	.	.	.	.	.	.	T	1.942	-0.443314	0.04604	.	.	ENSG00000142609	ENST00000270720	.	.	.	2.89	-2.81	0.05805	.	1.987270	0.02650	N	0.106329	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.08513	-1.0718	9	0.11485	T	0.65	-0.2405	2.3077	0.04178	0.3902:0.2533:0.0:0.3565	.	229;229	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	S	229	.	ENSP00000270720:N229S	N	-	2	0	C1orf222	1894335	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.017000	0.12590	-0.631000	0.05560	-0.695000	0.03696	AAC	C1orf222	-	NULL	ENSG00000142609	0	0.642					C1orf222	HGNC			30	0.00	0	T			1904475	1904475	-1	no_errors	ENST00000270720	ensembl	human	known	69_37n	missense	25	40.48	17	SNP	0.000	C
C3	718	genome.wustl.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E236	Frame_Shift_Ins	INS	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.K890fs	ENST00000245907.6	37	c.2671_2670	CCDS32883.1	19																																																																																			C3	-	NULL	ENSG00000125730		0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	77	0.00	0	-	NM_000064		6697480	6697481	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	frame_shift_ins	92	17.86	20	INS	0.022:0.014	G
C4orf27	54969	genome.wustl.edu	37	4	170674878	170674878	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:170674878A>T	ENST00000393381.2	-	2	232	c.157T>A	c.(157-159)Ttc>Atc	p.F53I		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	53						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		AAGTGATAGAAATCTTCAGGT	0.353																																						dbGAP											0													50.0	49.0	49.0					4																	170674878		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.157T>A	4.37:g.170674878A>T	ENSP00000406598:p.Phe53Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF2228_C2H2_APLF-like	p.F53I	ENST00000393381.2	37	c.157	CCDS3813.1	4	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199079	0.79015	.	.	ENSG00000056050	ENST00000393381	T	0.57595	0.39	4.81	4.81	0.61882	.	0.050035	0.85682	D	0.000000	T	0.64605	0.2613	M	0.77313	2.365	0.54753	D	0.999983	D	0.58268	0.982	P	0.52481	0.7	T	0.68360	-0.5429	10	0.44086	T	0.13	-3.99	14.3552	0.66733	1.0:0.0:0.0:0.0	.	53	Q9NWY4	CD027_HUMAN	I	53	ENSP00000406598:F53I	ENSP00000406598:F53I	F	-	1	0	C4orf27	170911453	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.369000	0.73109	1.804000	0.52760	0.379000	0.24179	TTC	C4orf27	-	NULL	ENSG00000056050		0.353	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf27	HGNC	protein_coding	OTTHUMT00000363140.1	80	0.00	0	A	NM_017867		170674878	170674878	-1	no_errors	ENST00000393381	ensembl	human	known	69_37n	missense	60	34.07	31	SNP	1.000	T
C7	730	genome.wustl.edu	37	5	40947909	40947909	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:40947909T>C	ENST00000313164.9	+	8	1303	c.944T>C	c.(943-945)gTt>gCt	p.V315A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	315	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GAATACAGAGTTCTATTTTAT	0.383																																						dbGAP											0													78.0	76.0	77.0					5																	40947909		1813	4071	5884	-	-	-	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.944T>C	5.37:g.40947909T>C	ENSP00000322061:p.Val315Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.V315A	ENST00000313164.9	37	c.944	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150524	0.37923	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	D	0.84800	-1.9	5.9	5.9	0.94986	Membrane attack complex component/perforin (MACPF) domain (3);	0.324362	0.32518	N	0.005987	D	0.83188	0.5200	L	0.52573	1.65	0.31404	N	0.676361	B	0.26577	0.153	B	0.35655	0.207	T	0.79132	-0.1929	10	0.16896	T	0.51	-11.4282	14.9063	0.70721	0.0:0.0:0.0:1.0	.	315	P10643	CO7_HUMAN	A	315;155;315	ENSP00000322061:V315A	ENSP00000322061:V315A	V	+	2	0	C7	40983666	1.000000	0.71417	0.969000	0.41365	0.947000	0.59692	3.634000	0.54302	2.248000	0.74166	0.528000	0.53228	GTT	C7	-	pfam_MACPF,smart_MACPF	ENSG00000112936		0.383	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	38	0.00	0	T			40947909	40947909	+1	no_errors	ENST00000313164	ensembl	human	known	69_37n	missense	65	21.69	18	SNP	0.995	C
C9orf114	51490	genome.wustl.edu	37	9	131591120	131591120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:131591120delT	ENST00000361256.5	-	3	142	c.102delA	c.(100-102)aaafs	p.K34fs		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	34							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GATCCTTCCATTTTTTTTTCT	0.527																																						dbGAP											0													113.0	119.0	117.0					9																	131591120		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.102delA	9.37:g.131591120delT	ENSP00000354812:p.Lys34fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Frame_Shift_Del	DEL	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.K34fs	ENST00000361256.5	37	c.102	CCDS6913.1	9																																																																																			C9orf114	-	NULL	ENSG00000198917		0.527	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	195	0.51	1	T	NM_016390		131591120	131591120	-1	no_errors	ENST00000361256	ensembl	human	known	69_37n	frame_shift_del	158	24.06	51	DEL	0.998	-
C9orf135	138255	genome.wustl.edu	37	9	72435881	72435881	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:72435881G>A	ENST00000377197.3	+	1	173	c.86G>A	c.(85-87)cGc>cAc	p.R29H	C9orf135-AS1_ENST00000439418.1_lincRNA|C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.R29H	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	29						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTGGTGGAGCGCAAGGGCTCC	0.597																																						dbGAP											0													69.0	60.0	63.0					9																	72435881		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.86G>A	9.37:g.72435881G>A	ENSP00000366402:p.Arg29His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2U4|B2RN61	Missense_Mutation	SNP	NULL	p.R29H	ENST00000377197.3	37	c.86	CCDS35041.1	9	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486052	0.84854	.	.	ENSG00000204711	ENST00000377197;ENST00000527647	.	.	.	4.8	4.8	0.61643	.	0.000000	0.47093	D	0.000244	T	0.76227	0.3958	M	0.65498	2.005	0.40500	D	0.980637	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79342	-0.1843	9	0.87932	D	0	-5.2651	13.2471	0.60029	0.0:0.0:1.0:0.0	.	29;29	A7E2U4;Q5VTT2	.;CI135_HUMAN	H	29	.	ENSP00000366402:R29H	R	+	2	0	C9orf135	71625701	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.536000	0.60636	2.488000	0.83962	0.655000	0.94253	CGC	C9orf135	-	NULL	ENSG00000204711		0.597	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C9orf135	HGNC	protein_coding	OTTHUMT00000052591.1	31	0.00	0	G	NM_001010940		72435881	72435881	+1	no_errors	ENST00000377197	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	1.000	A
CA14	23632	genome.wustl.edu	37	1	150234561	150234561	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:150234561A>G	ENST00000369111.4	+	4	1231	c.261A>G	c.(259-261)caA>caG	p.Q87Q	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	87					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TCACAGTGCAACTCTCTCTGC	0.562																																						dbGAP											0													124.0	106.0	112.0					1																	150234561		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.261A>G	1.37:g.150234561A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TB24|Q8NCF4	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q87	ENST00000369111.4	37	c.261	CCDS947.1	1																																																																																			CA14	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000118298		0.562	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	37	0.00	0	A	NM_012113		150234561	150234561	+1	no_errors	ENST00000369111	ensembl	human	known	69_37n	silent	59	20.78	16	SNP	1.000	G
CACNA1D	776	genome.wustl.edu	37	3	53765136	53765136	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:53765136A>G	ENST00000350061.5	+	17	2880	c.2369A>G	c.(2368-2370)aAa>aGa	p.K790R	CACNA1D_ENST00000422281.2_Missense_Mutation_p.K790R|CACNA1D_ENST00000288139.4_Missense_Mutation_p.K810R	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	790					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGAACAACAAACCAGAAGTC	0.348																																						dbGAP											0													116.0	108.0	111.0					3																	53765136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2369A>G	3.37:g.53765136A>G	ENSP00000288133:p.Lys790Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.K810R	ENST00000350061.5	37	c.2429	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918161	0.52546	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96104	-3.89;-3.91;-3.91;-3.91	5.82	5.82	0.92795	.	0.161161	0.43416	D	0.000568	D	0.91686	0.7372	L	0.43152	1.355	0.80722	D	1	P;B;B;B	0.34462	0.454;0.02;0.001;0.032	B;B;B;B	0.23275	0.045;0.018;0.005;0.008	D	0.90780	0.4678	10	0.42905	T	0.14	.	14.413	0.67128	1.0:0.0:0.0:0.0	.	790;483;790;810	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	R	790;810;790;483	ENSP00000288133:K790R;ENSP00000288139:K810R;ENSP00000409174:K790R;ENSP00000418014:K483R	ENSP00000288139:K810R	K	+	2	0	CACNA1D	53740176	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	5.538000	0.67193	2.218000	0.71995	0.533000	0.62120	AAA	CACNA1D	-	prints_LVDCC_a1dsu	ENSG00000157388		0.348	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	114	0.00	0	A	NM_000720		53765136	53765136	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	71	35.45	39	SNP	0.991	G
CADM4	199731	genome.wustl.edu	37	19	44127494	44127494	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:44127494T>C	ENST00000222374.2	-	9	1203	c.1155A>G	c.(1153-1155)gaA>gaG	p.E385E	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	385					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				AGATGAAGAATTCCTCTTTCC	0.577																																						dbGAP											0													140.0	139.0	139.0					19																	44127494		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.1155A>G	19.37:g.44127494T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7L5|Q9Y4A4	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.E385	ENST00000222374.2	37	c.1155	CCDS12627.1	19																																																																																			CADM4	-	NULL	ENSG00000105767		0.577	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	HGNC	protein_coding	OTTHUMT00000463352.1	69	0.00	0	T	NM_145296		44127494	44127494	-1	no_errors	ENST00000222374	ensembl	human	known	69_37n	silent	80	29.82	34	SNP	1.000	C
CAMSAP2	23271	genome.wustl.edu	37	1	200817995	200817995	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:200817995A>G	ENST00000236925.4	+	12	2180	c.2131A>G	c.(2131-2133)Acc>Gcc	p.T711A	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T700A|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T684A			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	711					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ACTGAATCATACCGATGGAAA	0.413																																						dbGAP											0													57.0	60.0	59.0					1																	200817995		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2131A>G	1.37:g.200817995A>G	ENSP00000236925:p.Thr711Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.T711A	ENST00000236925.4	37	c.2131		1	.	.	.	.	.	.	.	.	.	.	A	0.488	-0.876609	0.02550	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.70045	-0.45;-0.45;-0.45	5.29	2.93	0.34026	.	0.222113	0.47455	D	0.000240	T	0.38665	0.1049	N	0.08118	0	0.39665	D	0.970664	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.13407	0.002;0.0;0.009	T	0.14811	-1.0459	10	0.08381	T	0.77	-14.2408	7.8499	0.29448	0.7707:0.0:0.2293:0.0	.	684;711;700	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	A	700;684;711	ENSP00000351684:T700A;ENSP00000416800:T684A;ENSP00000236925:T711A	ENSP00000236925:T711A	T	+	1	0	CAMSAP1L1	199084618	0.819000	0.29175	0.871000	0.34182	0.851000	0.48451	1.260000	0.32968	0.803000	0.34113	0.482000	0.46254	ACC	CAMSAP2	-	NULL	ENSG00000118200		0.413	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	18	0.00	0	A	NM_203459		200817995	200817995	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	0.924	G
CAPN1	823	genome.wustl.edu	37	11	64978304	64978304	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:64978304C>A	ENST00000527323.1	+	20	2319	c.2079C>A	c.(2077-2079)gaC>gaA	p.D693E	CAPN1_ENST00000524773.1_Missense_Mutation_p.D693E|CAPN1_ENST00000533129.1_Missense_Mutation_p.D693E|CAPN1_ENST00000533820.1_Missense_Mutation_p.D693E|CAPN1_ENST00000279247.6_Missense_Mutation_p.D693E			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	693	Domain IV.|EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AAACTCTGGACACAGATCTGG	0.502																																						dbGAP											0													133.0	133.0	133.0					11																	64978304		1887	4104	5991	-	-	-	SO:0001583	missense	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.2079C>A	11.37:g.64978304C>A	ENSP00000431984:p.Asp693Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D693E	ENST00000527323.1	37	c.2079	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871062	0.51695	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.53	2.61	0.31194	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.85945	2.785	0.58432	D	0.999998	B	0.22683	0.073	B	0.27608	0.081	T	0.53373	-0.8448	10	0.72032	D	0.01	.	9.3423	0.38087	0.0:0.8067:0.0:0.1933	.	693	P07384	CAN1_HUMAN	E	693;693;693;693;639;693	ENSP00000435272:D693E;ENSP00000431686:D693E;ENSP00000434176:D693E;ENSP00000279247:D693E;ENSP00000431984:D693E	ENSP00000259755:D639E	D	+	3	2	CAPN1	64734880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.657000	0.54474	1.053000	0.40415	0.563000	0.77884	GAC	CAPN1	-	NULL	ENSG00000014216		0.502	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	135	0.00	0	C			64978304	64978304	+1	no_errors	ENST00000279247	ensembl	human	known	69_37n	missense	146	27.00	54	SNP	1.000	A
CASKIN2	57513	genome.wustl.edu	37	17	73503687	73503687	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:73503687A>G	ENST00000321617.3	-	4	808	c.222T>C	c.(220-222)acT>acC	p.T74T	CASKIN2_ENST00000581870.1_Silent_p.T74T|CASKIN2_ENST00000433559.2_5'UTR	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	74						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)			TGATGTCAACAGTGGCCTGAG	0.617																																						dbGAP											0													63.0	63.0	63.0					17																	73503687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.222T>C	17.37:g.73503687A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	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,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain	p.T74	ENST00000321617.3	37	c.222	CCDS11723.1	17																																																																																			CASKIN2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000177303		0.617	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	53	0.00	0	A	NM_020753		73503687	73503687	-1	no_errors	ENST00000321617	ensembl	human	known	69_37n	silent	56	18.84	13	SNP	0.126	G
CARD14	79092	genome.wustl.edu	37	17	78182035	78182035	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:78182035G>A	ENST00000573882.1	+	23	3442	c.2906G>A	c.(2905-2907)aGc>aAc	p.S969N	RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.S969N|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	969	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)			CTATACAGCAGCCTGGCTCCT	0.672																																						dbGAP											0													22.0	24.0	23.0					17																	78182035		2187	4287	6474	-	-	-	SO:0001583	missense	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.2906G>A	17.37:g.78182035G>A	ENSP00000458715:p.Ser969Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.S969N	ENST00000573882.1	37	c.2906	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	G	11.01	1.511920	0.27036	.	.	ENSG00000141527	ENST00000344227	T	0.17054	2.3	3.8	2.82	0.32997	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.103138	0.64402	D	0.000004	T	0.16128	0.0388	M	0.69823	2.125	0.80722	D	1	P	0.41748	0.761	B	0.30855	0.121	T	0.06789	-1.0807	10	0.39692	T	0.17	-23.164	11.4862	0.50354	0.0:0.5116:0.4884:0.0	.	969	Q9BXL6	CAR14_HUMAN	N	969	ENSP00000344549:S969N	ENSP00000344549:S969N	S	+	2	0	CARD14	75796630	1.000000	0.71417	0.999000	0.59377	0.376000	0.30014	1.955000	0.40372	0.802000	0.34089	-0.156000	0.13503	AGC	CARD14	-	pfscan_Guanylate_kin	ENSG00000141527		0.672	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	21	0.00	0	G			78182035	78182035	+1	no_errors	ENST00000344227	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	A
CASQ1	844	genome.wustl.edu	37	1	160168503	160168503	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:160168503G>A	ENST00000368078.3	+	8	1061	c.865G>A	c.(865-867)Gca>Aca	p.A289T	CASQ1_ENST00000368079.3_Missense_Mutation_p.A283T|CASQ1_ENST00000467691.1_Missense_Mutation_p.A10T			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	289					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGGCCTTCGCAGAGGAAGC	0.532																																						dbGAP											0													106.0	103.0	104.0					1																	160168503		2203	4300	6503	-	-	-	SO:0001583	missense	0			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.865G>A	1.37:g.160168503G>A	ENSP00000357057:p.Ala289Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.A289T	ENST00000368078.3	37	c.865	CCDS1198.2	1	.	.	.	.	.	.	.	.	.	.	G	31	5.084329	0.94100	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151;ENST00000467691	T;T;T	0.79247	-1.25;-1.25;-1.25	4.9	4.9	0.64082	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82323	-0.0514	10	0.18276	T	0.48	.	17.0151	0.86416	0.0:0.0:1.0:0.0	.	289	P31415	CASQ1_HUMAN	T	283;289;204;10	ENSP00000357058:A283T;ENSP00000357057:A289T;ENSP00000418051:A10T	ENSP00000357057:A289T	A	+	1	0	CASQ1	158435127	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.919000	0.92770	2.539000	0.85634	0.563000	0.77884	GCA	CASQ1	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000143318		0.532	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ1	HGNC	protein_coding	OTTHUMT00000077412.1	105	0.00	0	G	NM_001231		160168503	160168503	+1	no_errors	ENST00000368078	ensembl	human	known	69_37n	missense	130	12.16	18	SNP	1.000	A
CATSPER2	117155	genome.wustl.edu	37	15	43927354	43927354	+	Intron	DEL	T	T	-	rs565591354		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:43927354delT	ENST00000321596.5	-	10	1378				STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Intron|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000381761.1_Intron|CATSPER2_ENST00000354127.4_Intron|CATSPER2_ENST00000396879.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		acttaggatcttttttttttt	0.393											OREG0003957	type=REGULATORY REGION|Gene=AK093318|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1178+203A>-	15.37:g.43927354delT		Somatic	920	WXS	Illumina GAIIx	Phase_IV	Q8NHT9|Q96P54|Q96P55	Splice_Site	DEL	-	e2-2	ENST00000321596.5	37	c.34-2	CCDS10099.1	15																																																																																			CATSPER2	-	-	ENSG00000166762		0.393	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	20	0.00	0	T	NM_054020		43927354	43927354	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419262	ensembl	human	known	69_37n	splice_site_del	20	33.33	12	DEL	0.002	-
CATSPER3	347732	genome.wustl.edu	37	5	134347285	134347285	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:134347285A>G	ENST00000282611.6	+	8	1255	c.1169A>G	c.(1168-1170)cAg>cGg	p.Q390R		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	390					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGAAGCCCCAGTCCTTGGAA	0.522																																						dbGAP											0													74.0	65.0	68.0					5																	134347285		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.1169A>G	5.37:g.134347285A>G	ENSP00000282611:p.Gln390Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XS6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.Q390R	ENST00000282611.6	37	c.1169	CCDS4181.1	5	.	.	.	.	.	.	.	.	.	.	A	9.326	1.059365	0.19987	.	.	ENSG00000152705	ENST00000282611	D	0.96940	-4.18	3.91	1.48	0.22813	.	2.215120	0.01473	N	0.016354	D	0.92815	0.7715	L	0.36672	1.1	0.09310	N	1	B	0.26002	0.139	B	0.22386	0.039	T	0.82975	-0.0190	10	0.66056	D	0.02	0.1294	2.6859	0.05107	0.6481:0.0:0.1257:0.2262	.	390	Q86XQ3	CTSR3_HUMAN	R	390	ENSP00000282611:Q390R	ENSP00000282611:Q390R	Q	+	2	0	CATSPER3	134375184	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.529000	0.23019	0.324000	0.23333	0.459000	0.35465	CAG	CATSPER3	-	NULL	ENSG00000152705		0.522	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	78	0.00	0	A	NM_178019		134347285	134347285	+1	no_errors	ENST00000282611	ensembl	human	known	69_37n	missense	44	46.34	38	SNP	0.000	G
CCDC132	55610	genome.wustl.edu	37	7	92883184	92883184	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:92883184T>C	ENST00000305866.5	+	4	365	c.237T>C	c.(235-237)ccT>ccC	p.P79P	CCDC132_ENST00000544910.1_Silent_p.P49P|CCDC132_ENST00000251739.5_Silent_p.P79P|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	79						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTTCCACCTGTTCTCAATT	0.333																																						dbGAP											0													37.0	38.0	38.0					7																	92883184		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.237T>C	7.37:g.92883184T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.P79	ENST00000305866.5	37	c.237	CCDS43617.1	7																																																																																			CCDC132	-	pfam_Vacuolar_sorting-assoc_54	ENSG00000004766		0.333	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	41	0.00	0	T	NM_017667		92883184	92883184	+1	no_errors	ENST00000305866	ensembl	human	known	69_37n	silent	54	21.74	15	SNP	1.000	C
DRC7	84229	genome.wustl.edu	37	16	57752315	57752315	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:57752315T>C	ENST00000360716.3	+	9	1355	c.1134T>C	c.(1132-1134)acT>acC	p.T378T	CCDC135_ENST00000336825.8_Silent_p.T313T|CCDC135_ENST00000394337.4_Silent_p.T378T			Q8IY82	CC135_HUMAN		378					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TCCTGGGGACTGATAAGTCTC	0.532																																						dbGAP											0													262.0	237.0	245.0					16																	57752315		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000360716.3:c.1134T>C	16.37:g.57752315T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K943|Q8NAA0|Q9H080	Silent	SNP	NULL	p.T378	ENST00000360716.3	37	c.1134	CCDS10787.1	16																																																																																			CCDC135	-	NULL	ENSG00000159625		0.532	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	89	0.00	0	T			57752315	57752315	+1	no_errors	ENST00000360716	ensembl	human	known	69_37n	silent	103	33.97	53	SNP	0.002	C
CFAP58	159686	genome.wustl.edu	37	10	106163505	106163505	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:106163505G>A	ENST00000369704.3	+	14	2192	c.2058G>A	c.(2056-2058)atG>atA	p.M686I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		686						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTTTTCACATGCAAAGAGAAT	0.433																																						dbGAP											0													48.0	49.0	49.0					10																	106163505		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369704.3:c.2058G>A	10.37:g.106163505G>A	ENSP00000358718:p.Met686Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.M686I	ENST00000369704.3	37	c.2058	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525223	0.44969	.	.	ENSG00000120051	ENST00000369704	T	0.45668	0.89	5.5	3.64	0.41730	.	0.179273	0.64402	N	0.000018	T	0.25717	0.0626	N	0.17474	0.49	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.04065	-1.0980	10	0.39692	T	0.17	-11.9163	9.6399	0.39833	0.075:0.1504:0.7746:0.0	.	686	Q5T655	CC147_HUMAN	I	686	ENSP00000358718:M686I	ENSP00000358718:M686I	M	+	3	0	CCDC147	106153495	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.569000	0.53827	0.788000	0.33755	0.655000	0.94253	ATG	CCDC147	-	NULL	ENSG00000120051		0.433	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	47	0.00	0	G			106163505	106163505	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	1.000	A
CCDC158	339965	genome.wustl.edu	37	4	77305430	77305430	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:77305430C>T	ENST00000388914.3	-	5	689	c.537G>A	c.(535-537)atG>atA	p.M179I	CCDC158_ENST00000434846.2_Missense_Mutation_p.M179I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	179										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CATGACTAAGCATCATTTTTC	0.408																																						dbGAP											0													161.0	149.0	153.0					4																	77305430		1924	4128	6052	-	-	-	SO:0001583	missense	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.537G>A	4.37:g.77305430C>T	ENSP00000373566:p.Met179Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.M179I	ENST00000388914.3	37	c.537	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447669	0.26074	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.30981	1.54;1.51	5.71	5.71	0.89125	.	0.175650	0.40640	N	0.001053	T	0.20251	0.0487	N	0.19112	0.55	0.36234	D	0.852843	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.15549	-1.0433	10	0.22706	T	0.39	.	13.0325	0.58851	0.0:0.8385:0.1615:0.0	.	179;179	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	I	179	ENSP00000373566:M179I;ENSP00000401742:M179I	ENSP00000316815:M179I	M	-	3	0	CCDC158	77524454	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	1.683000	0.37638	2.706000	0.92434	0.650000	0.86243	ATG	CCDC158	-	NULL	ENSG00000163749		0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	80	0.00	0	C	NM_001042784		77305430	77305430	-1	no_errors	ENST00000388914	ensembl	human	known	69_37n	missense	64	45.83	55	SNP	1.000	T
DRC1	92749	genome.wustl.edu	37	2	26676213	26676213	+	Missense_Mutation	SNP	T	T	C	rs575828200	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:26676213T>C	ENST00000288710.2	+	14	1789	c.1715T>C	c.(1714-1716)aTg>aCg	p.M572T		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	572					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAGGCGAGCATGGAGAAGGCG	0.567																																						dbGAP											0													119.0	108.0	112.0					2																	26676213		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1715T>C	2.37:g.26676213T>C	ENSP00000288710:p.Met572Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	NULL	p.M572T	ENST00000288710.2	37	c.1715	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	T	3.651	-0.071624	0.07228	.	.	ENSG00000157856	ENST00000288710;ENST00000439066	T	0.14022	2.54	3.86	-3.69	0.04450	.	12.110400	0.00166	N	0.000003	T	0.06826	0.0174	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.27938	-1.0059	10	0.12430	T	0.62	7.68	5.2167	0.15346	0.1369:0.3742:0.0:0.4889	.	572	Q96MC2	CC164_HUMAN	T	572;128	ENSP00000288710:M572T	ENSP00000288710:M572T	M	+	2	0	CCDC164	26529717	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.837000	0.04377	-0.642000	0.05480	0.459000	0.35465	ATG	CCDC164	-	NULL	ENSG00000157856		0.567	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC164	HGNC	protein_coding	OTTHUMT00000246862.1	59	0.00	0	T	NM_145038		26676213	26676213	+1	no_errors	ENST00000288710	ensembl	human	known	69_37n	missense	55	36.05	31	SNP	0.000	C
CCDC61	729440	genome.wustl.edu	37	19	46520507	46520507	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:46520507G>A	ENST00000595358.1	+	12	1362	c.1313G>A	c.(1312-1314)gGt>gAt	p.G438D	CCDC61_ENST00000536603.1_Missense_Mutation_p.G258D|CCDC61_ENST00000594087.1_Missense_Mutation_p.G258D|MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000263284.2_Missense_Mutation_p.G457D	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	438						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TTTCTCAGGGGTCACCGCCGC	0.607											OREG0025565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													21.0	26.0	25.0					19																	46520507		2000	4149	6149	-	-	-	SO:0001583	missense	0				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.1313G>A	19.37:g.46520507G>A	ENSP00000471454:p.Gly438Asp	Somatic	939	WXS	Illumina GAIIx	Phase_IV	C8CAP4|Q9HDB6	Missense_Mutation	SNP	NULL	p.G457D	ENST00000595358.1	37	c.1370	CCDS46120.2	19	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405903	0.25378	.	.	ENSG00000104983	ENST00000263284;ENST00000536603	.	.	.	3.77	-2.6	0.06190	.	1.284800	0.05551	N	0.567480	T	0.25306	0.0615	N	0.19112	0.55	0.09310	N	1	B	0.23735	0.09	B	0.19148	0.024	T	0.16748	-1.0392	9	0.38643	T	0.18	5.2453	6.0207	0.19628	0.0:0.1741:0.5368:0.2891	.	400	Q9Y6R9	CCD61_HUMAN	D	457;258	.	ENSP00000263284:G457D	G	+	2	0	CCDC61	51212347	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.116000	0.10724	-0.920000	0.03799	-0.552000	0.04208	GGT	CCDC61	-	NULL	ENSG00000104983		0.607	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	HGNC	protein_coding	OTTHUMT00000461689.1	54	0.00	0	G	NM_001080402		46520507	46520507	+1	no_errors	ENST00000263284	ensembl	human	known	69_37n	missense	30	35.42	17	SNP	0.000	A
CCDC66	285331	genome.wustl.edu	37	3	56605270	56605271	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:56605270_56605271insA	ENST00000394672.3	+	7	946_947	c.876_877insA	c.(877-879)aaafs	p.K293fs	CCDC66_ENST00000436465.2_Frame_Shift_Ins_p.K293fs|CCDC66_ENST00000326595.7_Frame_Shift_Ins_p.K259fs	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	293					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATGATCCTTGGAAAAAATCTGA	0.272																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.882dupA	3.37:g.56605276_56605276dupA	ENSP00000378167:p.Lys293fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWL8|Q4VC34|Q8N949	Frame_Shift_Ins	INS	NULL	p.S294fs	ENST00000394672.3	37	c.876_877	CCDS46852.1	3																																																																																			CCDC66	-	NULL	ENSG00000180376		0.272	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1	36	0.00	0	-	NM_001012506		56605270	56605271	+1	no_errors	ENST00000394672	ensembl	human	known	69_37n	frame_shift_ins	29	38.30	18	INS	1.000:0.989	A
CCNT1	904	genome.wustl.edu	37	12	49086842	49086842	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:49086842G>C	ENST00000261900.3	-	9	2377	c.2155C>G	c.(2155-2157)Cca>Gca	p.P719A		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	719	Pro-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGAAGTGGTGGAGGAGGTTCT	0.403																																						dbGAP											0													36.0	31.0	33.0					12																	49086842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.2155C>G	12.37:g.49086842G>C	ENSP00000261900:p.Pro719Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P719A	ENST00000261900.3	37	c.2155	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610831	0.46527	.	.	ENSG00000129315	ENST00000261900	T	0.39406	1.08	4.63	4.63	0.57726	.	0.059742	0.64402	D	0.000002	T	0.53286	0.1787	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.57866	-0.7737	10	0.87932	D	0	-9.683	16.7599	0.85509	0.0:0.0:1.0:0.0	.	719	O60563	CCNT1_HUMAN	A	719	ENSP00000261900:P719A	ENSP00000261900:P719A	P	-	1	0	CCNT1	47373109	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	8.999000	0.93557	2.570000	0.86706	0.561000	0.74099	CCA	CCNT1	-	NULL	ENSG00000129315		0.403	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	43	0.00	0	G	NM_001240		49086842	49086842	-1	no_errors	ENST00000261900	ensembl	human	known	69_37n	missense	37	32.73	18	SNP	1.000	C
CCT6B	10693	genome.wustl.edu	37	17	33288280	33288280	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:33288280T>C	ENST00000314144.5	-	1	248	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	ZNF830_ENST00000361952.3_5'Flank|CCT6B_ENST00000436961.3_Missense_Mutation_p.K45E|CCT6B_ENST00000421975.3_Missense_Mutation_p.K45E	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	45					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCTCACATTTTCATGGTGCCT	0.637																																						dbGAP											0													29.0	29.0	29.0					17																	33288280		2200	4295	6495	-	-	-	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.133A>G	17.37:g.33288280T>C	ENSP00000327191:p.Lys45Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.K45E	ENST00000314144.5	37	c.133	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	T	28.6	4.936318	0.92458	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	D;D;D	0.84070	-1.8;-1.8;-1.8	5.23	5.23	0.72850	Chaperonin TCP-1, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	H	0.99732	4.735	0.80722	D	1	P;P;P	0.52316	0.866;0.93;0.952	P;P;P	0.60345	0.873;0.873;0.854	D	0.96385	0.9284	10	0.87932	D	0	.	13.3897	0.60816	0.0:0.0:0.0:1.0	.	45;45;45	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	E	45	ENSP00000398044:K45E;ENSP00000327191:K45E;ENSP00000400917:K45E	ENSP00000327191:K45E	K	-	1	0	CCT6B	30312393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.877000	0.75562	2.324000	0.78689	0.533000	0.62120	AAA	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.637	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	12	0.00	0	T	NM_006584		33288280	33288280	-1	no_errors	ENST00000314144	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	1.000	C
CD163	9332	genome.wustl.edu	37	12	7640574	7640574	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:7640574T>C	ENST00000359156.4	-	7	1732	c.1530A>G	c.(1528-1530)gaA>gaG	p.E510E	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.E498E|CD163_ENST00000432237.2_Silent_p.E510E|CD163_ENST00000396620.3_Silent_p.E510E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	510	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CGCTGGCAGCTTCCAGAGAGA	0.537																																						dbGAP											0													82.0	69.0	73.0					12																	7640574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1530A>G	12.37:g.7640574T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.E510	ENST00000359156.4	37	c.1530	CCDS8578.1	12																																																																																			CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177575		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	54	0.00	0	T	NM_004244, NM_203416		7640574	7640574	-1	no_errors	ENST00000359156	ensembl	human	known	69_37n	silent	67	33.00	33	SNP	0.961	C
CD164L2	388611	genome.wustl.edu	37	1	27706607	27706607	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:27706607C>T	ENST00000374030.1	-	5	592	c.452G>A	c.(451-453)aGc>aAc	p.S151N	CD164L2_ENST00000374027.3_Missense_Mutation_p.S151N			Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	151						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCCTGTAGGCTCAACACCAG	0.622																																						dbGAP											0													170.0	140.0	150.0					1																	27706607		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358761	CCDS302.1	1p36.11	2008-02-05			ENSG00000174950	ENSG00000174950			32043	protein-coding gene	gene with protein product							Standard	XM_005245868		Approved		uc001boc.3	Q6UWJ8	OTTHUMG00000003395	ENST00000374030.1:c.452G>A	1.37:g.27706607C>T	ENSP00000363142:p.Ser151Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPJ0|Q5JXD6	Missense_Mutation	SNP	pfam_CD164_MGC24	p.S151N	ENST00000374030.1	37	c.452		1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404443	0.83230	.	.	ENSG00000174950	ENST00000374030;ENST00000374027	T;T	0.49720	0.77;0.77	5.79	4.85	0.62838	.	0.111336	0.40554	N	0.001078	T	0.55657	0.1934	M	0.62723	1.935	0.80722	D	1	P	0.43231	0.801	P	0.49012	0.598	T	0.58612	-0.7606	10	0.62326	D	0.03	-14.3216	14.2398	0.65950	0.0:0.8518:0.1482:0.0	.	151	Q6UWJ8	C16L2_HUMAN	N	151	ENSP00000363142:S151N;ENSP00000363139:S151N	ENSP00000363139:S151N	S	-	2	0	CD164L2	27579194	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	3.116000	0.50399	2.739000	0.93911	0.655000	0.94253	AGC	CD164L2	-	pfam_CD164_MGC24	ENSG00000174950		0.622	CD164L2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CD164L2	HGNC	protein_coding	OTTHUMT00000009518.1	94	0.00	0	C	NM_207397		27706607	27706607	-1	no_errors	ENST00000374030	ensembl	human	known	69_37n	missense	81	32.50	39	SNP	1.000	T
CD5	921	genome.wustl.edu	37	11	60886845	60886845	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:60886845C>T	ENST00000347785.3	+	5	769	c.603C>T	c.(601-603)tgC>tgT	p.C201C		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	201	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		ACTTCCTCTGCAACAACCTCC	0.612																																						dbGAP											0													72.0	74.0	73.0					11																	60886845		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.603C>T	11.37:g.60886845C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0P4|A8K9I3	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Tcell_CD5,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.C201	ENST00000347785.3	37	c.603	CCDS8000.1	11																																																																																			CD5	-	superfamily_Srcr_rcpt-rel,prints_Tcell_CD5,pfscan_Srcr_rcpt	ENSG00000110448		0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5	HGNC	protein_coding	OTTHUMT00000396465.2	29	0.00	0	C	NM_014207		60886845	60886845	+1	no_errors	ENST00000347785	ensembl	human	known	69_37n	silent	22	40.54	15	SNP	0.020	T
CDH20	28316	genome.wustl.edu	37	18	59166695	59166695	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:59166695C>T	ENST00000262717.4	+	3	921	c.523C>T	c.(523-525)Cca>Tca	p.P175S	CDH20_ENST00000536675.2_Missense_Mutation_p.P175S|CDH20_ENST00000538374.1_Missense_Mutation_p.P175S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	175	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)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGCCACTGTGCCAGAAATGTC	0.478																																						dbGAP											0													67.0	69.0	68.0					18																	59166695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.523C>T	18.37:g.59166695C>T	ENSP00000262717:p.Pro175Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P175S	ENST00000262717.4	37	c.523	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133009	0.77662	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.52983	0.64;0.64;0.64	6.06	5.15	0.70609	Cadherin (4);Cadherin-like (1);	0.107907	0.64402	D	0.000005	T	0.52092	0.1713	L	0.28649	0.875	0.54753	D	0.99998	P	0.43431	0.807	P	0.54346	0.749	T	0.53308	-0.8457	10	0.87932	D	0	.	15.3492	0.74370	0.0:0.746:0.254:0.0	.	175	Q9HBT6	CAD20_HUMAN	S	175	ENSP00000444767:P175S;ENSP00000442226:P175S;ENSP00000262717:P175S	ENSP00000262717:P175S	P	+	1	0	CDH20	57317675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.794000	0.55492	2.880000	0.98712	0.650000	0.86243	CCA	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.478	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	46	0.00	0	C	NM_031891		59166695	59166695	+1	no_errors	ENST00000262717	ensembl	human	known	69_37n	missense	56	29.11	23	SNP	1.000	T
CDK18	5129	genome.wustl.edu	37	1	205499815	205499815	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:205499815T>C	ENST00000360066.2	+	15	1673	c.1372T>C	c.(1372-1374)Ttg>Ctg	p.L458L	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L488L|CDK18_ENST00000429964.2_Silent_p.L458L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	456							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTACCGAGGCTTGGCCTTCCA	0.627																																					Pancreas(180;489 2072 28461 40831 44265)	dbGAP											0													47.0	45.0	46.0					1																	205499815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.1372T>C	1.37:g.205499815T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	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.L488	ENST00000360066.2	37	c.1462	CCDS44300.1	1																																																																																			CDK18	-	NULL	ENSG00000117266		0.627	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	45	0.00	0	T	NM_002596		205499815	205499815	+1	no_errors	ENST00000506784	ensembl	human	known	69_37n	silent	66	23.26	20	SNP	0.978	C
CEL	1056	genome.wustl.edu	37	9	135946438	135946438	+	Missense_Mutation	SNP	G	G	T	rs369900445	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:135946438G>T	ENST00000372080.4	+	11	1574	c.1558G>T	c.(1558-1560)Ggc>Tgc	p.G520C	CEL_ENST00000351304.7_Missense_Mutation_p.G451C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	517					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGAAAACAGCGGCTACCTGGA	0.607																																						dbGAP											0													32.0	41.0	38.0					9																	135946438		1998	4171	6169	-	-	-	SO:0001583	missense	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1558G>T	9.37:g.135946438G>T	ENSP00000361151:p.Gly520Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G520C	ENST00000372080.4	37	c.1558	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	A	6.469	0.454639	0.12283	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.58506	0.33;0.33	5.04	-0.284	0.12870	Carboxylesterase, type B (1);	0.809087	0.11741	N	0.534004	T	0.54351	0.1853	L	0.28054	0.825	0.09310	N	1	D	0.61697	0.99	D	0.67231	0.95	T	0.42015	-0.9476	10	0.51188	T	0.08	.	2.1613	0.03826	0.3303:0.3874:0.1564:0.1258	.	517	P19835	CEL_HUMAN	C	520;451;519	ENSP00000361151:G520C;ENSP00000342217:G451C	ENSP00000304021:G519C	G	+	1	0	CEL	134936259	0.001000	0.12720	0.011000	0.14972	0.004000	0.04260	-0.023000	0.12456	-0.336000	0.08438	-1.323000	0.01288	GGC	CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	40	0.00	0	G			135946438	135946438	+1	no_errors	ENST00000372080	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	0.008	T
CELSR1	9620	genome.wustl.edu	37	22	46762904	46762904	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:46762904C>T	ENST00000262738.3	-	29	8190	c.8191G>A	c.(8191-8193)Gcc>Acc	p.A2731T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2731					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCAGGGTGGCCCTGGTGGTG	0.706											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													28.0	25.0	26.0					22																	46762904		2196	4299	6495	-	-	-	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8191G>A	22.37:g.46762904C>T	ENSP00000262738:p.Ala2731Thr	Somatic	941	WXS	Illumina GAIIx	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,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.A2731T	ENST00000262738.3	37	c.8191	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	c	16.29	3.082032	0.55861	.	.	ENSG00000075275	ENST00000262738	T	0.68765	-0.35	4.57	4.57	0.56435	.	0.086168	0.45867	U	0.000326	T	0.61627	0.2362	L	0.52126	1.63	0.80722	D	1	B	0.34015	0.435	B	0.33042	0.157	T	0.62520	-0.6837	10	0.34782	T	0.22	.	16.5355	0.84372	0.0:1.0:0.0:0.0	.	2731	Q9NYQ6	CELR1_HUMAN	T	2731	ENSP00000262738:A2731T	ENSP00000262738:A2731T	A	-	1	0	CELSR1	45141568	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	3.274000	0.51631	2.260000	0.74910	0.567000	0.79289	GCC	CELSR1	-	NULL	ENSG00000075275		0.706	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	20	0.00	0	C	NM_014246		46762904	46762904	-1	no_errors	ENST00000262738	ensembl	human	known	69_37n	missense	7	58.82	10	SNP	1.000	T
CEP350	9857	genome.wustl.edu	37	1	179985072	179985072	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:179985072T>A	ENST00000367607.3	+	11	2559	c.2141T>A	c.(2140-2142)aTg>aAg	p.M714K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	714					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGTAGTGACATGTCTCTCTCA	0.433																																						dbGAP											0													101.0	92.0	95.0					1																	179985072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2141T>A	1.37:g.179985072T>A	ENSP00000356579:p.Met714Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.M714K	ENST00000367607.3	37	c.2141	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974771	0.53720	.	.	ENSG00000135837	ENST00000367607	T	0.12361	2.69	5.57	5.57	0.84162	.	0.108147	0.40728	N	0.001040	T	0.11153	0.0272	L	0.29908	0.895	0.33075	D	0.535834	B;B	0.31730	0.337;0.211	B;B	0.28553	0.091;0.084	T	0.15122	-1.0448	9	.	.	.	.	15.3954	0.74787	0.0:0.0:0.0:1.0	.	714;714	E7EU22;Q5VT06	.;CE350_HUMAN	K	714	ENSP00000356579:M714K	.	M	+	2	0	CEP350	178251695	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.017000	0.64047	2.127000	0.65507	0.460000	0.39030	ATG	CEP350	-	NULL	ENSG00000135837		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	51	0.00	0	T	NM_014810		179985072	179985072	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	A
CEP44	80817	genome.wustl.edu	37	4	175229894	175229894	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:175229894G>C	ENST00000503780.1	+	7	976	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	CEP44_ENST00000457424.2_Missense_Mutation_p.E188Q|CEP44_ENST00000426172.1_Missense_Mutation_p.E188Q|CEP44_ENST00000296519.4_Missense_Mutation_p.E188Q	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	188						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TGACATTTCTGAGGATACATT	0.343																																						dbGAP											0													110.0	110.0	110.0					4																	175229894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.562G>C	4.37:g.175229894G>C	ENSP00000423153:p.Glu188Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	NULL	p.E188Q	ENST00000503780.1	37	c.562	CCDS34106.1	4	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667598	0.29604	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000515299;ENST00000426172;ENST00000296519	T;T;T;T;T	0.47869	0.88;0.86;0.83;0.86;0.88	4.97	2.29	0.28610	.	0.615341	0.15734	N	0.247294	T	0.48696	0.1514	L	0.57536	1.79	0.09310	N	1	P;D	0.55385	0.557;0.971	B;P	0.52957	0.232;0.714	T	0.29305	-1.0016	10	0.25106	T	0.35	.	6.0833	0.19952	0.307:0.0:0.693:0.0	.	188;188	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	Q	188	ENSP00000423153:E188Q;ENSP00000389427:E188Q;ENSP00000421128:E188Q;ENSP00000408221:E188Q;ENSP00000296519:E188Q	ENSP00000296519:E188Q	E	+	1	0	CEP44	175466469	0.754000	0.28360	0.028000	0.17463	0.001000	0.01503	1.788000	0.38714	0.766000	0.33244	-0.142000	0.14014	GAG	CEP44	-	NULL	ENSG00000164118		0.343	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP44	HGNC	protein_coding	OTTHUMT00000362109.2	76	0.00	0	G	NM_030633		175229894	175229894	+1	no_errors	ENST00000426172	ensembl	human	known	69_37n	missense	72	37.39	43	SNP	0.025	C
CEP89	84902	genome.wustl.edu	37	19	33378730	33378730	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:33378730A>G	ENST00000305768.5	-	17	1981	c.1893T>C	c.(1891-1893)agT>agC	p.S631S		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	631					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						CATCCTTCTCACTTTCTAAAC	0.358																																						dbGAP											0													104.0	87.0	93.0					19																	33378730		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			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.1893T>C	19.37:g.33378730A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGA6|Q8N5J8	Silent	SNP	NULL	p.S631	ENST00000305768.5	37	c.1893	CCDS32987.1	19																																																																																			CEP89	-	NULL	ENSG00000121289		0.358	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	HGNC	protein_coding	OTTHUMT00000451300.2	128	0.00	0	A	NM_032816		33378730	33378730	-1	no_errors	ENST00000305768	ensembl	human	known	69_37n	silent	139	25.40	48	SNP	0.985	G
CHP2	63928	genome.wustl.edu	37	16	23767738	23767738	+	Missense_Mutation	SNP	G	G	A	rs79455352	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:23767738G>A	ENST00000300113.2	+	5	805	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	128	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D128Y(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537																																						dbGAP											1	Substitution - Missense(1)	stomach(1)											86.0	69.0	75.0					16																	23767738		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.382G>A	16.37:g.23767738G>A	ENSP00000300113:p.Asp128Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2I8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D128N	ENST00000300113.2	37	c.382	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211780	0.58452	.	.	ENSG00000166869	ENST00000300113	T	0.79352	-1.26	3.82	3.82	0.43975	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	N	0.21324	0.655	0.58432	D	0.999999	D	0.58268	0.982	P	0.46237	0.508	T	0.69529	-0.5121	10	0.36615	T	0.2	-17.3968	14.0131	0.64509	0.0:0.0:1.0:0.0	.	128	O43745	CHP2_HUMAN	N	128	ENSP00000300113:D128N	ENSP00000300113:D128N	D	+	1	0	AC130454.2	23675239	1.000000	0.71417	0.942000	0.38095	0.291000	0.27294	8.034000	0.88864	2.414000	0.81942	0.591000	0.81541	GAT	CHP2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000166869		0.537	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	HGNC	protein_coding	OTTHUMT00000254498.1	61	0.00	0	G	NM_022097		23767738	23767738	+1	no_errors	ENST00000300113	ensembl	human	known	69_37n	missense	96	20.00	24	SNP	0.997	A
CHRM4	1132	genome.wustl.edu	37	11	46408063	46408063	+	Silent	SNP	G	G	T	rs537160864		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:46408063G>T	ENST00000433765.2	-	1	44	c.45C>A	c.(43-45)tcC>tcA	p.S15S		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	15					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAGGCGCACGGACTGATTGC	0.577																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	dbGAP											0													93.0	95.0	95.0					11																	46408063		2128	4236	6364	-	-	-	SO:0001819	synonymous_variant	0			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.45C>A	11.37:g.46408063G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Musac_M4_rcpt	p.S15	ENST00000433765.2	37	c.45	CCDS44581.1	11																																																																																			CHRM4	-	NULL	ENSG00000180720		0.577	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	42	0.00	0	G	NM_000741		46408063	46408063	-1	no_errors	ENST00000433765	ensembl	human	known	69_37n	silent	49	20.97	13	SNP	0.973	T
CHSY1	22856	genome.wustl.edu	37	15	101718063	101718063	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:101718063T>C	ENST00000254190.3	-	3	2414	c.1939A>G	c.(1939-1941)Aat>Gat	p.N647D	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	647					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGAACTGTATTTGCTCGACAT	0.428																																						dbGAP											0													71.0	71.0	71.0					15																	101718063		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1939A>G	15.37:g.101718063T>C	ENSP00000254190:p.Asn647Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.N647D	ENST00000254190.3	37	c.1939	CCDS10390.1	15	.	.	.	.	.	.	.	.	.	.	T	19.23	3.786880	0.70337	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.25579	1.79	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69057	-0.5246	10	0.87932	D	0	-56.1649	16.1549	0.81657	0.0:0.0:0.0:1.0	.	647	Q86X52	CHSS1_HUMAN	D	647;375	ENSP00000254190:N647D	ENSP00000254190:N647D	N	-	1	0	CHSY1	99535586	1.000000	0.71417	0.948000	0.38648	0.998000	0.95712	5.971000	0.70440	2.209000	0.71365	0.533000	0.62120	AAT	CHSY1	-	pfam_Chond_GalNAc	ENSG00000131873		0.428	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	HGNC	protein_coding	OTTHUMT00000313624.1	28	0.00	0	T	NM_014918		101718063	101718063	-1	no_errors	ENST00000254190	ensembl	human	known	69_37n	missense	83	17.00	17	SNP	0.998	C
CIITA	4261	genome.wustl.edu	37	16	11016271	11016271	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:11016271T>C	ENST00000324288.8	+	18	3374	c.3241T>C	c.(3241-3243)Tac>Cac	p.Y1081H	CIITA_ENST00000381835.5_Missense_Mutation_p.Y497H	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1081					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CAGCGTCCAGTACAACAAGTT	0.642			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	dbGAP		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													45.0	49.0	48.0					16																	11016271		2197	4300	6497	-	-	-	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3241T>C	16.37:g.11016271T>C	ENSP00000316328:p.Tyr1081His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.Y1081H	ENST00000324288.8	37	c.3241	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	T	12.51	1.961070	0.34565	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.53206	0.65;0.63	5.24	4.08	0.47627	.	0.182541	0.26832	N	0.022275	T	0.51261	0.1664	L	0.39467	1.215	0.26238	N	0.978914	D;D;B	0.89917	1.0;0.996;0.032	D;D;B	0.71184	0.972;0.935;0.041	T	0.37056	-0.9722	10	0.16896	T	0.51	.	7.7118	0.28682	0.1869:0.0:0.0:0.8131	.	497;1081;1081	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	H	1081;497	ENSP00000316328:Y1081H;ENSP00000371257:Y497H	ENSP00000316328:Y1081H	Y	+	1	0	CIITA	10923772	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.506000	0.45433	1.980000	0.57719	0.459000	0.35465	TAC	CIITA	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000179583		0.642	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	61	0.00	0	T	NM_000246		11016271	11016271	+1	no_errors	ENST00000324288	ensembl	human	known	69_37n	missense	31	35.42	17	SNP	1.000	C
CKAP5	9793	genome.wustl.edu	37	11	46799048	46799048	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:46799048T>G	ENST00000529230.1	-	23	2849	c.2803A>C	c.(2803-2805)Att>Ctt	p.I935L	CKAP5_ENST00000354558.3_Missense_Mutation_p.I935L|CKAP5_ENST00000312055.5_Missense_Mutation_p.I935L|CKAP5_ENST00000415402.1_Missense_Mutation_p.I935L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	935					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGTTGCTTAATATTTGGGCCC	0.418																																					Ovarian(4;85 273 2202 4844 13323)	dbGAP											0													132.0	121.0	125.0					11																	46799048		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2803A>C	11.37:g.46799048T>G	ENSP00000432768:p.Ile935Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.I935L	ENST00000529230.1	37	c.2803	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149025	0.37923	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.39	2.97	0.34412	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.253447	0.39146	N	0.001459	T	0.27169	0.0666	L	0.28115	0.83	0.41086	D	0.985567	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.05954	-1.0854	10	0.23302	T	0.38	-10.7705	10.23	0.43250	0.0:0.1399:0.0:0.8601	.	935;935;935	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	935	ENSP00000432768:I935L;ENSP00000395302:I935L;ENSP00000310227:I935L;ENSP00000346566:I935L	ENSP00000310227:I935L	I	-	1	0	CKAP5	46755624	0.994000	0.37717	1.000000	0.80357	0.917000	0.54804	1.362000	0.34148	0.845000	0.35118	0.459000	0.35465	ATT	CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000175216		0.418	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	142	0.00	0	T	NM_014756		46799048	46799048	-1	no_errors	ENST00000415402	ensembl	human	known	69_37n	missense	189	28.68	76	SNP	0.980	G
CLCN3	1182	genome.wustl.edu	37	4	170634376	170634376	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:170634376A>G	ENST00000513761.1	+	12	2855	c.2296A>G	c.(2296-2298)Acc>Gcc	p.T766A	CLCN3_ENST00000360642.3_Missense_Mutation_p.T739A|CLCN3_ENST00000347613.4_Missense_Mutation_p.T766A|CLCN3_ENST00000504131.2_Missense_Mutation_p.T749A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	766	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACAGACCACACCCCAATGGA	0.498																																						dbGAP											0													119.0	104.0	109.0					4																	170634376		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2296A>G	4.37:g.170634376A>G	ENSP00000424603:p.Thr766Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-3	p.T766A	ENST00000513761.1	37	c.2296	CCDS34101.1	4	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862012	0.91433	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.06	5.06	0.68205	Cystathionine beta-synthase, core (3);	0.092635	0.85682	D	0.000000	D	0.94988	0.8378	M	0.67517	2.055	0.80722	D	1	P;P;P;P	0.52170	0.951;0.951;0.951;0.939	P;P;P;P	0.56127	0.718;0.792;0.792;0.688	D	0.95200	0.8316	10	0.59425	D	0.04	-7.2046	14.8669	0.70422	1.0:0.0:0.0:0.0	.	739;749;766;766	B7Z932;B9EGJ9;P51790;P51790-2	.;.;CLCN3_HUMAN;.	A	766;766;739;749	ENSP00000424603:T766A;ENSP00000261514:T766A;ENSP00000353857:T739A;ENSP00000424540:T749A	ENSP00000261514:T766A	T	+	1	0	CLCN3	170870951	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.336000	0.96533	1.905000	0.55150	0.524000	0.50904	ACC	CLCN3	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	ENSG00000109572		0.498	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLCN3	HGNC	protein_coding	OTTHUMT00000363210.2	77	0.00	0	A			170634376	170634376	+1	no_errors	ENST00000347613	ensembl	human	known	69_37n	missense	46	36.49	27	SNP	1.000	G
CLEC17A	388512	genome.wustl.edu	37	19	14705311	14705311	+	Intron	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:14705311T>C	ENST00000417570.1	+	5	315				CLEC17A_ENST00000397439.2_Missense_Mutation_p.L70P|CLEC17A_ENST00000547437.1_Intron	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A							cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GCCCTCACCCTGAGCTTCTCT	0.572																																						dbGAP											0													45.0	45.0	45.0					19																	14705311		1973	4145	6118	-	-	-	SO:0001627	intron_variant	0			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.278-18T>C	19.37:g.14705311T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.L70P	ENST00000417570.1	37	c.209	CCDS56087.1	19	.	.	.	.	.	.	.	.	.	.	t	11.67	1.708569	0.30322	.	.	ENSG00000187912	ENST00000397439	T	0.29655	1.56	3.26	1.04	0.20106	.	.	.	.	.	T	0.28632	0.0709	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25152	-1.0140	6	0.59425	D	0.04	.	5.5563	0.17119	0.0:0.263:0.0:0.737	.	.	.	.	P	70	ENSP00000380581:L70P	ENSP00000380581:L70P	L	+	2	0	CLEC17A	14566311	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.213000	0.17521	0.017000	0.15025	-0.484000	0.04775	CTG	CLEC17A	-	NULL	ENSG00000187912		0.572	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1	130	0.00	0	T	NM_207390		14705311	14705311	+1	no_errors	ENST00000397439	ensembl	human	known	69_37n	missense	130	23.53	40	SNP	0.001	C
CLK2	1196	genome.wustl.edu	37	1	155236644	155236644	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:155236644G>T	ENST00000368361.4	-	7	1029	c.714C>A	c.(712-714)caC>caA	p.H238Q	CLK2_ENST00000536801.1_Missense_Mutation_p.H238Q|CLK2_ENST00000355560.4_Missense_Mutation_p.H236Q|CLK2_ENST00000361168.5_Missense_Mutation_p.H237Q|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	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)			AGATACACATGTGGCCATGGT	0.537								Other conserved DNA damage response genes																														dbGAP											0													109.0	95.0	99.0					1																	155236644		2203	4300	6503	-	-	-	SO:0001583	missense	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.714C>A	1.37:g.155236644G>T	ENSP00000357345:p.His238Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVS9|B5MBX6|Q96CQ0	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.H238Q	ENST00000368361.4	37	c.714		1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.207981	0.79240	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.38	4.45	0.53987	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	0.75049	0.3797	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77437	-0.2588	10	0.87932	D	0	.	13.3013	0.60326	0.0783:0.0:0.9217:0.0	.	238;237	P49760;P49760-3	CLK2_HUMAN;.	Q	237;238;236;10;238	ENSP00000354856:H237Q;ENSP00000357345:H238Q;ENSP00000347759:H236Q;ENSP00000441023:H238Q	ENSP00000347759:H236Q	H	-	3	2	CLK2	153503268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.717000	0.61923	2.806000	0.96561	0.655000	0.94253	CAC	CLK2	-	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	ENSG00000176444		0.537	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	108	0.00	0	G	NM_003993		155236644	155236644	-1	no_errors	ENST00000368361	ensembl	human	known	69_37n	missense	177	20.98	47	SNP	1.000	T
CMTM2	146225	genome.wustl.edu	37	16	66620992	66620992	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:66620992A>G	ENST00000268595.2	+	3	688	c.537A>G	c.(535-537)ttA>ttG	p.L179L	CMTM2_ENST00000379486.2_Silent_p.L126L	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	179	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TCCACTACTTACTTGCTGTGG	0.493																																						dbGAP											0													225.0	171.0	189.0					16																	66620992		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.537A>G	16.37:g.66620992A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5I2A4|Q8N7E5	Silent	SNP	NULL	p.L179	ENST00000268595.2	37	c.537	CCDS10814.1	16																																																																																			CMTM2	-	NULL	ENSG00000140932		0.493	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMTM2	HGNC	protein_coding	OTTHUMT00000268808.1	161	0.00	0	A			66620992	66620992	+1	no_errors	ENST00000268595	ensembl	human	known	69_37n	silent	172	19.16	41	SNP	0.000	G
CNOT8	9337	genome.wustl.edu	37	5	154244839	154244839	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:154244839G>A	ENST00000517876.1	+	4	681	c.205G>A	c.(205-207)Gtt>Att	p.V69I	CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000521583.1_De_novo_Start_OutOfFrame|CNOT8_ENST00000524105.1_De_novo_Start_OutOfFrame|CNOT8_ENST00000519404.1_Missense_Mutation_p.V69I|CNOT8_ENST00000520671.1_De_novo_Start_OutOfFrame|CNOT8_ENST00000521402.1_3'UTR|CNOT8_ENST00000521450.1_Intron|CNOT8_ENST00000403027.2_Missense_Mutation_p.V69I|CNOT8_ENST00000285896.6_Missense_Mutation_p.V69I			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCGGTGCAATGTTGACCTTTT	0.393																																					NSCLC(140;1804 1895 27149 29895 35312)	dbGAP											0													147.0	149.0	148.0					5																	154244839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.205G>A	5.37:g.154244839G>A	ENSP00000430493:p.Val69Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.V69I	ENST00000517876.1	37	c.205	CCDS4329.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.273363	0.95459	.	.	ENSG00000155508	ENST00000517876;ENST00000520472;ENST00000519211;ENST00000522458;ENST00000403027;ENST00000517568;ENST00000285896;ENST00000542339;ENST00000519404;ENST00000519394;ENST00000518775	T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.38	5.38	0.77491	Ribonuclease H-like (1);	0.115060	0.64402	N	0.000017	T	0.68751	0.3035	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78768	-0.2075	10	0.87932	D	0	-10.8352	19.1548	0.93506	0.0:0.0:1.0:0.0	.	69;69	B7Z8R1;Q9UFF9	.;CNOT8_HUMAN	I	69;69;69;69;69;69;69;46;69;69;69	ENSP00000430493:V69I;ENSP00000430215:V69I;ENSP00000429108:V69I;ENSP00000428550:V69I;ENSP00000384747:V69I;ENSP00000428090:V69I;ENSP00000285896:V69I;ENSP00000430833:V69I;ENSP00000428842:V69I;ENSP00000429394:V69I	ENSP00000285896:V69I	V	+	1	0	CNOT8	154225032	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.394000	0.97261	2.512000	0.84698	0.563000	0.77884	GTT	CNOT8	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000155508		0.393	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	HGNC	protein_coding	OTTHUMT00000377449.1	103	0.00	0	G	NM_004779		154244839	154244839	+1	no_errors	ENST00000285896	ensembl	human	known	69_37n	missense	64	43.86	50	SNP	1.000	A
CNST	163882	genome.wustl.edu	37	1	246755180	246755180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:246755180delA	ENST00000366513.4	+	2	585	c.316delA	c.(316-318)aaafs	p.K107fs	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Frame_Shift_Del_p.K107fs	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	107					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGGAAAGGACAAAAAAATTCC	0.413																																						dbGAP											0													33.0	34.0	34.0					1																	246755180		2202	4297	6499	-	-	-	SO:0001589	frameshift_variant	0			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.316delA	1.37:g.246755180delA	ENSP00000355470:p.Lys107fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Frame_Shift_Del	DEL	NULL	p.I108fs	ENST00000366513.4	37	c.316	CCDS1628.1	1																																																																																			CNST	-	NULL	ENSG00000162852		0.413	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	29	0.00	0	A	NM_152609		246755180	246755180	+1	no_errors	ENST00000366513	ensembl	human	known	69_37n	frame_shift_del	52	14.75	9	DEL	0.913	-
CNTN1	1272	genome.wustl.edu	37	12	41337525	41337525	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:41337525A>G	ENST00000551295.2	+	13	1623	c.1506A>G	c.(1504-1506)acA>acG	p.T502T	CNTN1_ENST00000348761.2_Splice_Site_p.T491T|CNTN1_ENST00000360099.3_Splice_Site_p.T502T|CNTN1_ENST00000547702.1_Splice_Site_p.T502T|CNTN1_ENST00000547849.1_Splice_Site_p.T502T|CNTN1_ENST00000347616.1_Splice_Site_p.T502T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	502					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTGTTATCACAGGTAAGTTAA	0.333																																						dbGAP											0													95.0	93.0	94.0					12																	41337525		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1507+1A>G	12.37:g.41337525A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T502	ENST00000551295.2	37	c.1506	CCDS8737.1	12																																																																																			CNTN1	-	smart_Ig_sub	ENSG00000018236		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	61	0.00	0	A	NM_001843	Silent	41337525	41337525	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	silent	79	26.61	29	SNP	1.000	G
COG1	9382	genome.wustl.edu	37	17	71204484	71204484	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:71204484A>G	ENST00000299886.4	+	14	2917	c.2837A>G	c.(2836-2838)gAc>gGc	p.D946G	FAM104A_ENST00000583178.1_5'Flank|FAM104A_ENST00000405159.3_3'UTR|FAM104A_ENST00000403627.3_3'UTR	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	946					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			ACAGCTGGTGACCCGACAGTT	0.557																																						dbGAP											0													125.0	105.0	112.0					17																	71204484		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2837A>G	17.37:g.71204484A>G	ENSP00000299886:p.Asp946Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.D946G	ENST00000299886.4	37	c.2837	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149353	0.57151	.	.	ENSG00000166685	ENST00000299886	T	0.24723	1.84	6.17	5.06	0.68205	.	0.143124	0.64402	D	0.000009	T	0.27278	0.0669	M	0.67953	2.075	0.80722	D	1	P	0.50443	0.935	B	0.40782	0.34	T	0.05750	-1.0866	10	0.45353	T	0.12	-42.1421	10.9428	0.47283	0.8612:0.0:0.0:0.1388	.	946	Q8WTW3	COG1_HUMAN	G	946	ENSP00000299886:D946G	ENSP00000299886:D946G	D	+	2	0	COG1	68716079	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.155000	0.77445	2.371000	0.80710	0.533000	0.62120	GAC	COG1	-	NULL	ENSG00000166685		0.557	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	86	0.00	0	A			71204484	71204484	+1	no_errors	ENST00000299886	ensembl	human	known	69_37n	missense	62	28.72	27	SNP	0.997	G
COL18A1	80781	genome.wustl.edu	37	21	46896297	46896297	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:46896297A>G	ENST00000359759.4	+	5	2097	c.2076A>G	c.(2074-2076)ccA>ccG	p.P692P	COL18A1_ENST00000400337.2_Silent_p.P277P|COL18A1_ENST00000355480.5_Silent_p.P457P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	692	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|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)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCCCGCGCCACCCCCCGTCA	0.637																																						dbGAP											0													43.0	47.0	45.0					21																	46896297		1991	4149	6140	-	-	-	SO:0001819	synonymous_variant	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2076A>G	21.37:g.46896297A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.P692	ENST00000359759.4	37	c.2076		21																																																																																			COL18A1	-	NULL	ENSG00000182871		0.637	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	56	0.00	0	A			46896297	46896297	+1	no_errors	ENST00000359759	ensembl	human	known	69_37n	silent	50	26.39	19	SNP	0.438	G
COL9A1	1297	genome.wustl.edu	37	6	70935663	70935663	+	Silent	SNP	G	G	A	rs534752381		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:70935663G>A	ENST00000357250.6	-	37	2711	c.2553C>T	c.(2551-2553)aaC>aaT	p.N851N	COL9A1_ENST00000370499.4_Silent_p.N608N|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Silent_p.N608N|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	851	Collagen-like 10.|Triple-helical region (COL1).				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						CAGGCAAACCGTTGGGACCTC	0.433													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15756	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													79.0	74.0	76.0					6																	70935663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				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.2553C>T	6.37:g.70935663G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.N851	ENST00000357250.6	37	c.2553	CCDS4971.1	6																																																																																			COL9A1	-	pfam_Collagen	ENSG00000112280		0.433	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	60	0.00	0	G			70935663	70935663	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	silent	39	51.85	42	SNP	0.998	A
COX15	1355	genome.wustl.edu	37	10	101486835	101486835	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:101486835G>T	ENST00000016171.5	-	4	522	c.472C>A	c.(472-474)Ctt>Att	p.L158I	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.L158I			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	158					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AGGCCTACAAGGCGACCCCAC	0.498																																						dbGAP											0													100.0	92.0	95.0					10																	101486835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.472C>A	10.37:g.101486835G>T	ENSP00000016171:p.Leu158Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	pfam_HemeA_syn,superfamily_Pept_cys/ser_Trypsin-like	p.L158I	ENST00000016171.5	37	c.472	CCDS7482.1	10	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477739	0.26511	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.82893	-1.66;-1.66	5.33	-0.11	0.13580	.	0.766000	0.12877	N	0.431779	T	0.73528	0.3598	L	0.48218	1.51	0.09310	N	0.999998	B;B	0.10296	0.003;0.001	B;B	0.17433	0.018;0.018	T	0.55211	-0.8176	10	0.13853	T	0.58	-0.6255	9.2749	0.37694	0.0:0.3501:0.3164:0.3334	.	158;158	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	I	158	ENSP00000359514:L158I;ENSP00000016171:L158I	ENSP00000016171:L158I	L	-	1	0	COX15	101476825	0.871000	0.30034	0.458000	0.27068	0.974000	0.67602	0.806000	0.27126	0.071000	0.16664	0.655000	0.94253	CTT	COX15	-	pfam_HemeA_syn	ENSG00000014919		0.498	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX15	HGNC	protein_coding	OTTHUMT00000049818.1	78	0.00	0	G	NP_510870		101486835	101486835	-1	no_errors	ENST00000016171	ensembl	human	known	69_37n	missense	63	35.71	35	SNP	0.212	T
CPSF2	53981	genome.wustl.edu	37	14	92627467	92627467	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:92627467T>C	ENST00000298875.4	+	15	2418	c.2133T>C	c.(2131-2133)caT>caC	p.H711H		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	711					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TTCCTGGACATCAGTCAGTTT	0.383																																					Ovarian(78;28 1788 18702 44111)	dbGAP											0													142.0	135.0	137.0					14																	92627467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2133T>C	14.37:g.92627467T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	pfam_RMMBL	p.I228T	ENST00000298875.4	37	c.683	CCDS9902.1	14	.	.	.	.	.	.	.	.	.	.	T	8.978	0.974716	0.18736	.	.	ENSG00000165934	ENST00000555244	.	.	.	5.96	-3.15	0.05233	.	.	.	.	.	T	0.65873	0.2733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66300	-0.5958	4	.	.	.	.	15.6458	0.77049	0.0:0.5451:0.0:0.4549	.	.	.	.	T	228	.	.	I	+	2	0	CPSF2	91697220	0.661000	0.27430	0.991000	0.47740	0.998000	0.95712	-0.185000	0.09684	-0.417000	0.07461	0.533000	0.62120	ATC	CPSF2	-	NULL	ENSG00000165934		0.383	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1	147	0.00	0	T			92627467	92627467	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000555244	ensembl	human	novel	69_37n	missense	179	18.26	40	SNP	0.825	C
CPSF3L	54973	genome.wustl.edu	37	1	1256437	1256437	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:1256437A>G	ENST00000435064.1	-	2	147	c.65T>C	c.(64-66)gTc>gCc	p.V22A	CPSF3L_ENST00000419704.1_Missense_Mutation_p.V22A|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000540437.1_Missense_Mutation_p.V28A|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.V22A|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000545578.1_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	22					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CGCAATGGAGACCAGGATGCA	0.652																																						dbGAP											0													119.0	106.0	110.0					1																	1256437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.65T>C	1.37:g.1256437A>G	ENSP00000413493:p.Val22Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.V28A	ENST00000435064.1	37	c.83	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	a	19.46	3.830881	0.71258	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	D;T;D;D;D;D;D;D;D	0.85088	-1.94;0.68;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	4.66	4.66	0.58398	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.90494	0.7022	M	0.67953	2.075	0.80722	D	1	P;B;P;P;P;P	0.52577	0.794;0.254;0.484;0.954;0.918;0.828	P;B;B;D;P;P	0.65140	0.668;0.311;0.381;0.932;0.668;0.777	D	0.91504	0.5221	10	0.72032	D	0.01	-52.4143	14.1328	0.65266	1.0:0.0:0.0:0.0	.	22;22;41;22;28;22	Q5TA45-3;C9J979;Q5TA51;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	A	22;34;22;28;22;22;28;69;23;82	ENSP00000413493:V22A;ENSP00000404886:V22A;ENSP00000445001:V28A;ENSP00000392848:V22A;ENSP00000411233:V22A;ENSP00000436743:V28A;ENSP00000432009:V69A;ENSP00000435772:V23A;ENSP00000436824:V82A	ENSP00000294579:V34A	V	-	2	0	CPSF3L	1246300	1.000000	0.71417	0.959000	0.39883	0.982000	0.71751	7.217000	0.77982	1.725000	0.51514	0.450000	0.29827	GTC	CPSF3L	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000127054		0.652	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	34	0.00	0	A	NM_017871		1256437	1256437	-1	no_errors	ENST00000540437	ensembl	human	known	69_37n	missense	20	43.24	16	SNP	1.000	G
CPSF7	79869	genome.wustl.edu	37	11	61178488	61178488	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:61178488T>C	ENST00000394888.4	-	9	1515	c.1343A>G	c.(1342-1344)cAt>cGt	p.H448R	CPSF7_ENST00000340437.4_Missense_Mutation_p.H491R|CPSF7_ENST00000448745.1_Missense_Mutation_p.H439R|CPSF7_ENST00000439958.3_Missense_Mutation_p.H439R	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	448	Arg-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ATAATCATCATGCCGATCTTC	0.552																																						dbGAP											0													122.0	125.0	124.0					11																	61178488		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1343A>G	11.37:g.61178488T>C	ENSP00000378352:p.His448Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H491R	ENST00000394888.4	37	c.1472	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	T	36	5.742174	0.96873	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000477890	T;T;T;T;D	0.86297	3.53;3.53;3.53;3.53;-2.1	5.95	5.95	0.96441	.	0.246041	0.41938	D	0.000797	D	0.88269	0.6391	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.981;0.994;0.991	D	0.87557	0.2469	10	0.31617	T	0.26	-5.9342	16.0971	0.81132	0.0:0.0:0.0:1.0	.	448;491;439	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	R	491;448;439;439;214;372	ENSP00000345412:H491R;ENSP00000378352:H448R;ENSP00000397203:H439R;ENSP00000407394:H439R;ENSP00000437860:H372R	ENSP00000345412:H491R	H	-	2	0	CPSF7	60935064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.908000	0.87438	2.279000	0.76181	0.533000	0.62120	CAT	CPSF7	-	NULL	ENSG00000149532		0.552	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	HGNC	protein_coding	OTTHUMT00000347835.2	60	0.00	0	T	NM_024811		61178488	61178488	-1	no_errors	ENST00000340437	ensembl	human	known	69_37n	missense	40	34.92	22	SNP	1.000	C
CPXM2	119587	genome.wustl.edu	37	10	125521487	125521487	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:125521487G>A	ENST00000241305.3	-	11	1832	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	560					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)		GTCATGAGGCGGTGTGTGGAG	0.657																																						dbGAP											0													52.0	51.0	52.0					10																	125521487		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1678C>T	10.37:g.125521487G>A	ENSP00000241305:p.Arg560Cys	Somatic		WXS	Illumina GAIIx	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.R560C	ENST00000241305.3	37	c.1678	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537001	0.85812	.	.	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.11277	2.79	5.25	5.25	0.73442	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	T	0.01844	-1.1262	10	0.56958	D	0.05	-30.2986	19.044	0.93012	0.0:0.0:1.0:0.0	.	560	Q8N436	CPXM2_HUMAN	C	56;560;393;535	ENSP00000241305:R560C	ENSP00000241305:R560C	R	-	1	0	CPXM2	125511477	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	9.631000	0.98424	2.733000	0.93635	0.609000	0.83330	CGC	CPXM2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000121898		0.657	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	44	0.00	0	G	NM_198148		125521487	125521487	-1	no_errors	ENST00000241305	ensembl	human	known	69_37n	missense	47	28.79	19	SNP	1.000	A
CREBBP	1387	genome.wustl.edu	37	16	3781803	3781803	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:3781803A>G	ENST00000262367.5	-	29	5673	c.4864T>C	c.(4864-4866)Tat>Cat	p.Y1622H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1584H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1622	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				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)		ATGGTGGCATACAGCTTCTGG	0.592			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													399.0	325.0	350.0					16																	3781803		2197	4300	6497	-	-	-	SO:0001583	missense	0			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.4864T>C	16.37:g.3781803A>G	ENSP00000262367:p.Tyr1622His	Somatic		WXS	Illumina GAIIx	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.Y1622H	ENST00000262367.5	37	c.4864	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	a	16.41	3.114268	0.56505	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93604	-3.25;-3.25	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000003	D	0.96873	0.8979	M	0.86573	2.825	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.96679	0.9502	10	0.39692	T	0.17	-13.8293	15.5057	0.75739	1.0:0.0:0.0:0.0	.	1652;1622	Q4LE28;Q92793	.;CBP_HUMAN	H	1622;1652;1584	ENSP00000262367:Y1622H;ENSP00000371502:Y1584H	ENSP00000262367:Y1622H	Y	-	1	0	CREBBP	3721804	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	9.339000	0.96797	2.071000	0.62044	0.459000	0.35465	TAT	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000005339		0.592	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	450	0.22	1	A	NM_004380		3781803	3781803	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	missense	250	43.31	191	SNP	1.000	G
CRLF3	51379	genome.wustl.edu	37	17	29123191	29123191	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:29123191A>G	ENST00000324238.6	-	4	714	c.590T>C	c.(589-591)gTa>gCa	p.V197A	CRLF3_ENST00000544695.1_Missense_Mutation_p.V81A|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	197	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ACACCATCGTACAATGATGCC	0.383																																					Pancreas(30;346 881 29244 33464 41299)	dbGAP											0													110.0	97.0	102.0					17																	29123191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.590T>C	17.37:g.29123191A>G	ENSP00000318804:p.Val197Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.V197A	ENST00000324238.6	37	c.590	CCDS32607.1	17	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151453	0.57151	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.61859	0.07;0.07	5.41	5.41	0.78517	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	L	0.49126	1.545	0.80722	D	1	P	0.42827	0.791	B	0.34652	0.187	T	0.56486	-0.7971	10	0.51188	T	0.08	-12.9068	15.4267	0.75059	1.0:0.0:0.0:0.0	.	197	Q8IUI8	CRLF3_HUMAN	A	197;81	ENSP00000318804:V197A;ENSP00000444188:V81A	ENSP00000318804:V197A	V	-	2	0	CRLF3	26147317	1.000000	0.71417	0.775000	0.31657	0.974000	0.67602	8.438000	0.90305	2.053000	0.61076	0.260000	0.18958	GTA	CRLF3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000176390		0.383	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF3	HGNC	protein_coding	OTTHUMT00000444354.1	77	0.00	0	A			29123191	29123191	-1	no_errors	ENST00000324238	ensembl	human	known	69_37n	missense	65	18.75	15	SNP	0.998	G
CRLS1	54675	genome.wustl.edu	37	20	6012717	6012717	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:6012717C>A	ENST00000378863.4	+	5	877	c.720C>A	c.(718-720)ttC>ttA	p.F240L	CRLS1_ENST00000452938.1_3'UTR|CRLS1_ENST00000464921.1_3'UTR|CRLS1_ENST00000378868.4_Missense_Mutation_p.F141L	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	240					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						AACCAACATTCATCAGCAAGG	0.338																																						dbGAP											0													107.0	105.0	106.0					20																	6012717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"""GCD10 homolog (S. cerevisiae)"""	608188	"""chromosome 20 open reading frame 155"""	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.720C>A	20.37:g.6012717C>A	ENSP00000368140:p.Phe240Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP	pfam_CDP-OH_P_trans	p.F240L	ENST00000378863.4	37	c.720	CCDS13096.1	20	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901857	0.17760	.	.	ENSG00000088766	ENST00000378863;ENST00000378868	.	.	.	5.97	4.06	0.47325	.	0.148348	0.64402	D	0.000007	T	0.38161	0.1030	N	0.17901	0.54	0.43499	D	0.995747	B;B	0.13145	0.001;0.007	B;B	0.21917	0.004;0.037	T	0.10337	-1.0634	9	0.16420	T	0.52	-40.7844	8.3211	0.32130	0.0:0.762:0.0:0.238	.	141;240	Q9UJA2-2;Q9UJA2	.;CRLS1_HUMAN	L	240;141	.	ENSP00000368140:F240L	F	+	3	2	CRLS1	5960717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.295000	0.33377	0.873000	0.35799	0.655000	0.94253	TTC	CRLS1	-	NULL	ENSG00000088766		0.338	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLS1	HGNC	protein_coding	OTTHUMT00000077902.2	126	0.00	0	C	NM_019095		6012717	6012717	+1	no_errors	ENST00000378863	ensembl	human	known	69_37n	missense	75	41.41	53	SNP	1.000	A
CRMP1	1400	genome.wustl.edu	37	4	5827261	5827261	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:5827261delT	ENST00000397890.2	-	13	1801	c.1587delA	c.(1585-1587)ccafs	p.P530fs	EVC_ENST00000382674.2_Intron|CRMP1_ENST00000512574.1_Frame_Shift_Del_p.P528fs|CRMP1_ENST00000324989.7_Frame_Shift_Del_p.P644fs|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	530					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTCTGATGGGTGGGGGCTGGT	0.552																																						dbGAP											0													173.0	169.0	171.0					4																	5827261		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1587delA	4.37:g.5827261delT	ENSP00000380987:p.Pro530fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0EJG6|Q13024|Q4W5F1|Q96TC8	Frame_Shift_Del	DEL	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.I645fs	ENST00000397890.2	37	c.1929	CCDS43207.1	4																																																																																			CRMP1	-	NULL	ENSG00000072832		0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	193	0.00	0	T	NM_001313		5827261	5827261	-1	no_errors	ENST00000324989	ensembl	human	known	69_37n	frame_shift_del	154	33.20	83	DEL	0.511	-
CRYL1	51084	genome.wustl.edu	37	13	20987466	20987466	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:20987466A>G	ENST00000298248.7	-	6	756	c.694T>C	c.(694-696)Tat>Cat	p.Y232H	CRYL1_ENST00000382812.1_Missense_Mutation_p.Y210H	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	232					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		ATGAATGCATACCGCATGCCC	0.478																																						dbGAP											0													115.0	113.0	114.0					13																	20987466		1970	4162	6132	-	-	-	SO:0001583	missense	0			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.694T>C	13.37:g.20987466A>G	ENSP00000298248:p.Tyr232His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.Y232H	ENST00000298248.7	37	c.694	CCDS41871.1	13	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043570	0.36085	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	D;D	0.89415	-2.51;-2.51	5.11	5.11	0.69529	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96003	0.8995	10	0.87932	D	0	-20.8692	13.8923	0.63747	1.0:0.0:0.0:0.0	.	232	Q9Y2S2	CRYL1_HUMAN	H	232;210	ENSP00000298248:Y232H;ENSP00000372262:Y210H	ENSP00000298248:Y232H	Y	-	1	0	CRYL1	19885466	1.000000	0.71417	0.945000	0.38365	0.159000	0.22180	7.466000	0.80914	1.920000	0.55613	0.459000	0.35465	TAT	CRYL1	-	pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	ENSG00000165475		0.478	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYL1	HGNC	protein_coding	OTTHUMT00000044071.1	78	0.00	0	A	NM_015974		20987466	20987466	-1	no_errors	ENST00000298248	ensembl	human	known	69_37n	missense	62	36.36	36	SNP	0.999	G
CRYM	1428	genome.wustl.edu	37	16	21288836	21288836	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:21288836G>A	ENST00000219599.3	-	4	505	c.240C>T	c.(238-240)taC>taT	p.Y80Y	CRYM_ENST00000574787.1_5'Flank|CRYM_ENST00000415987.2_Silent_p.Y38Y|CRYM_ENST00000543948.1_Silent_p.Y80Y|CRYM_ENST00000396023.2_Silent_p.Y80Y	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	80					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CGCGGTCCTCGTAGAAGGTGA	0.607																																						dbGAP											0													89.0	67.0	74.0					16																	21288836		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.240C>T	16.37:g.21288836G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D5MNX0|Q5HYB7	Silent	SNP	pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420	p.Y80	ENST00000219599.3	37	c.240	CCDS10597.1	16																																																																																			CRYM	-	pfam_ODC_Mu_crystall	ENSG00000103316		0.607	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYM	HGNC	protein_coding	OTTHUMT00000207398.1	43	0.00	0	G			21288836	21288836	-1	no_errors	ENST00000219599	ensembl	human	known	69_37n	silent	35	27.08	13	SNP	0.995	A
CSF2RA	1438	genome.wustl.edu	37	X	1428338	1428338	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:1428338G>A	ENST00000381524.3	+	13	1355	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R390H|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Silent_p.P330P|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R257H|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R424H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R390H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	390					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.P330P(1)|p.R390H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAAGGCTACCGCGAAGAGGTC	0.547																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)											198.0	186.0	190.0					X																	1428338		2203	4296	6499	-	-	-	SO:0001583	missense	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.1169G>A	X.37:g.1428338G>A	ENSP00000370935:p.Arg390His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.R424H	ENST00000381524.3	37	c.1271	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	4.342	0.062993	0.08388	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000417535	D;D;D;D;D	0.93859	-3.03;-3.03;-3.3;-3.03;-2.89	0.69	-0.885	0.10593	.	.	.	.	.	T	0.81259	0.4785	.	.	.	0.09310	N	1	B;B	0.31459	0.324;0.14	B;B	0.15484	0.013;0.009	T	0.68930	-0.5279	7	0.15066	T	0.55	.	.	.	.	.	424;390	A7J003;P15509	.;CSF2R_HUMAN	H	390;390;257;390;424	ENSP00000370940:R390H;ENSP00000416437:R390H;ENSP00000440491:R257H;ENSP00000370935:R390H;ENSP00000394227:R424H	ENSP00000370935:R390H	R	+	2	0	CSF2RA	1388338	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.125000	0.15749	-0.255000	0.09486	0.110000	0.15639	CGC	CSF2RA	-	NULL	ENSG00000198223		0.547	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	125	0.00	0	G			1428338	1428338	+1	no_errors	ENST00000417535	ensembl	human	known	69_37n	missense	123	28.49	49	SNP	0.000	A
CSMD3	114788	genome.wustl.edu	37	8	113323267	113323267	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:113323267C>T	ENST00000297405.5	-	50	8069	c.7825G>A	c.(7825-7827)Gtg>Atg	p.V2609M	CSMD3_ENST00000352409.3_Missense_Mutation_p.V2539M|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2569M|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2505M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2609	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTGCACACAGCACTGCTT	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													163.0	133.0	143.0					8																	113323267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7825G>A	8.37:g.113323267C>T	ENSP00000297405:p.Val2609Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	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.V2609M	ENST00000297405.5	37	c.7825	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259178	0.80246	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.62	5.62	0.85841	Complement control module (2);Sushi/SCR/CCP (3);	0.180789	0.34580	N	0.003856	T	0.73953	0.3653	L	0.48935	1.535	0.35650	D	0.811693	P;P;D	0.69078	0.948;0.924;0.997	P;P;D	0.66847	0.859;0.877;0.947	T	0.76921	-0.2780	10	0.33940	T	0.23	.	12.9252	0.58257	0.0:0.9258:0.0:0.0742	.	2505;2609;2569	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	2569;2609;1879;2505;2539	ENSP00000345799:V2569M;ENSP00000297405:V2609M;ENSP00000341558:V1879M;ENSP00000412263:V2505M;ENSP00000343124:V2539M	ENSP00000297405:V2609M	V	-	1	0	CSMD3	113392443	0.998000	0.40836	0.973000	0.42090	0.976000	0.68499	3.974000	0.56852	2.628000	0.89032	0.655000	0.94253	GTG	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.463	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	68	0.00	0	C	NM_052900		113323267	113323267	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	76	20.83	20	SNP	0.993	T
CSNK1E	1454	genome.wustl.edu	37	22	38694881	38694881	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:38694881G>C	ENST00000396832.1	-	7	1055	c.795C>G	c.(793-795)gaC>gaG	p.D265E	CSNK1E_ENST00000403904.1_Missense_Mutation_p.D265E|CSNK1E_ENST00000405675.3_Missense_Mutation_p.D265E|CSNK1E_ENST00000400206.2_Missense_Mutation_p.D265E|CSNK1E_ENST00000359867.3_Missense_Mutation_p.D265E|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_Missense_Mutation_p.D265E	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGTAAGAGTAGTCGGGCTTGT	0.542											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	dbGAP											0													201.0	184.0	190.0					22																	38694881		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.795C>G	22.37:g.38694881G>C	ENSP00000380044:p.Asp265Glu	Somatic	880	WXS	Illumina GAIIx	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	p.D265E	ENST00000396832.1	37	c.795	CCDS13970.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.606775|2.606775	0.46527|0.46527	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675|ENST00000451964	T;T;T;T;T;T|.	0.25250|.	1.81;1.81;1.81;1.81;1.81;1.81|.	4.95|4.95	3.92|3.92	0.45320|0.45320	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84469|0.84469	0.5479|0.5479	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	P;B;B|.	0.49185|.	0.92;0.186;0.051|.	B;B;B|.	0.41988|.	0.372;0.102;0.055|.	D|D	0.88611|0.88611	0.3156|0.3156	10|5	0.87932|.	D|.	0|.	.|.	13.66|13.66	0.62361|0.62361	0.076:0.0:0.924:0.0|0.076:0.0:0.924:0.0	.|.	265;265;265|.	B0QY35;B0QY34;P49674|.	.;.;KC1E_HUMAN|.	E|S	265|203	ENSP00000352929:D265E;ENSP00000380044:D265E;ENSP00000383067:D265E;ENSP00000384074:D265E;ENSP00000407235:D265E;ENSP00000384426:D265E|.	ENSP00000352929:D265E|.	D|T	-|-	3|2	2|0	CSNK1E|CSNK1E	37024827|37024827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.665000|5.665000	0.68052|0.68052	2.294000|2.294000	0.77228|0.77228	0.655000|0.655000	0.94253|0.94253	GAC|ACT	CSNK1E	-	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	ENSG00000213923		0.542	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1E	HGNC	protein_coding	OTTHUMT00000321462.1	97	0.00	0	G	NM_001894		38694881	38694881	-1	no_errors	ENST00000359867	ensembl	human	known	69_37n	missense	76	24.00	24	SNP	1.000	C
CSRP2BP	57325	genome.wustl.edu	37	20	18131569	18131569	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:18131569delT	ENST00000435364.3	+	3	824	c.483delT	c.(481-483)actfs	p.T161fs	CSRP2BP_ENST00000377681.3_Frame_Shift_Del_p.T161fs|CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.T33fs	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	161					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AACATTGGACTTTTTTACTAG	0.343																																						dbGAP											0													159.0	152.0	155.0					20																	18131569		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.483delT	20.37:g.18131569delT	ENSP00000392318:p.Thr161fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Frame_Shift_Del	DEL	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.L163fs	ENST00000435364.3	37	c.483	CCDS13133.1	20																																																																																			CSRP2BP	-	NULL	ENSG00000149474		0.343	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	97	0.00	0	T	NM_020536		18131569	18131569	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	frame_shift_del	85	37.04	50	DEL	0.823	-
CSRP2BP	57325	genome.wustl.edu	37	20	18165347	18165347	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:18165347T>C	ENST00000435364.3	+	9	2427	c.2086T>C	c.(2086-2088)Tac>Cac	p.Y696H	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.Y695H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.Y568H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	696	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGATGTGAAATACAATGAAGC	0.403																																						dbGAP											0													228.0	192.0	204.0					20																	18165347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2086T>C	20.37:g.18165347T>C	ENSP00000392318:p.Tyr696His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.Y696H	ENST00000435364.3	37	c.2086	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754988	0.89843	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.99	5.99	0.97316	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.28192	0.835	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.976;0.994	T	0.13953	-1.0490	10	0.87932	D	0	-13.1072	16.4943	0.84223	0.0:0.0:0.0:1.0	.	568;696	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	696;695;696;568	ENSP00000278816:Y696H;ENSP00000366909:Y695H;ENSP00000392318:Y696H;ENSP00000425909:Y568H	ENSP00000278816:Y696H	Y	+	1	0	CSRP2BP	18113347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.948000	0.87774	2.291000	0.77112	0.533000	0.62120	TAC	CSRP2BP	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000149474		0.403	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	138	0.00	0	T	NM_020536		18165347	18165347	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	missense	123	40.58	84	SNP	1.000	C
CSTF1	1477	genome.wustl.edu	37	20	54978696	54978696	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:54978696A>G	ENST00000217109.4	+	6	1561	c.1209A>G	c.(1207-1209)atA>atG	p.I403M	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	403					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|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)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TACGCTGCATAGTGCACTCCC	0.592																																						dbGAP											0													134.0	114.0	121.0					20																	54978696		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1209A>G	20.37:g.54978696A>G	ENSP00000217109:p.Ile403Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I403M	ENST00000217109.4	37	c.1209	CCDS13452.1	20	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269115	0.59540	.	.	ENSG00000101138	ENST00000217109;ENST00000425890	T	0.63913	-0.07	5.45	-10.9	0.00192	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	T	0.66479	0.2793	M	0.91717	3.235	0.44871	D	0.997887	B	0.32245	0.361	B	0.43052	0.406	T	0.72121	-0.4386	10	0.87932	D	0	-4.8244	10.4746	0.44657	0.5877:0.1823:0.0:0.23	.	403	Q05048	CSTF1_HUMAN	M	403;390	ENSP00000217109:I403M	ENSP00000217109:I403M	I	+	3	3	CSTF1	54412103	0.002000	0.14202	0.242000	0.24170	0.918000	0.54935	-1.394000	0.02518	-2.577000	0.00464	-1.268000	0.01426	ATA	CSTF1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000101138		0.592	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF1	HGNC	protein_coding	OTTHUMT00000079794.2	69	0.00	0	A	NM_001033521		54978696	54978696	+1	no_errors	ENST00000217109	ensembl	human	known	69_37n	missense	100	24.24	32	SNP	0.174	G
CSTF3	1479	genome.wustl.edu	37	11	33108677	33108677	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:33108677C>T	ENST00000323959.4	-	18	1791	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	551					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TAGCTTAGCACGGGAGACATC	0.408																																						dbGAP											0													180.0	180.0	180.0					11																	33108677		2202	4298	6500	-	-	-	SO:0001583	missense	0			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1652G>A	11.37:g.33108677C>T	ENSP00000315791:p.Arg551His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.R551H	ENST00000323959.4	37	c.1652	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520710	0.64747	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	5.82	4.9	0.64082	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.50333	1.59	0.80722	D	1	B	0.26845	0.161	B	0.22880	0.042	T	0.56768	-0.7924	9	0.48119	T	0.1	.	15.3088	0.74014	0.0:0.9319:0.0:0.0681	.	551	Q12996	CSTF3_HUMAN	H	551;484	.	ENSP00000315791:R551H	R	-	2	0	CSTF3	33065253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.751000	0.94390	0.650000	0.86243	CGT	CSTF3	-	pfam_Suf	ENSG00000176102		0.408	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	110	0.00	0	C	NM_001326		33108677	33108677	-1	no_errors	ENST00000323959	ensembl	human	known	69_37n	missense	108	31.65	50	SNP	1.000	T
CSTF3	1479	genome.wustl.edu	37	11	33113848	33113848	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:33113848T>G	ENST00000323959.4	-	16	1553	c.1414A>C	c.(1414-1416)Aca>Cca	p.T472P	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	472					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTTCCAGATGTTAAAACTCGT	0.348																																						dbGAP											0													115.0	118.0	117.0					11																	33113848		2202	4298	6500	-	-	-	SO:0001583	missense	0			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1414A>C	11.37:g.33113848T>G	ENSP00000315791:p.Thr472Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.T472P	ENST00000323959.4	37	c.1414	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	T	32	5.111696	0.94339	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36340	1.26	6.07	6.07	0.98685	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.71036	2.16	0.80722	D	1	P	0.42409	0.779	P	0.54026	0.74	T	0.52411	-0.8579	10	0.44086	T	0.13	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	472	Q12996	CSTF3_HUMAN	P	472;405	ENSP00000315791:T472P	ENSP00000315791:T472P	T	-	1	0	CSTF3	33070424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.031000	0.88826	2.330000	0.79161	0.477000	0.44152	ACA	CSTF3	-	pfam_Suf,smart_HAT	ENSG00000176102		0.348	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	118	0.00	0	T	NM_001326		33113848	33113848	-1	no_errors	ENST00000323959	ensembl	human	known	69_37n	missense	144	23.81	45	SNP	1.000	G
CTBP2	1488	genome.wustl.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A	rs185815738	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						dbGAP											0													82.0	86.0	85.0					10																	126682516		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.G813	ENST00000337195.5	37	c.2439	CCDS7643.1	10																																																																																			CTBP2	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000175029		0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	32	0.00	0	G	NM_001083914		126682516	126682516	-1	no_errors	ENST00000309035	ensembl	human	known	69_37n	silent	27	35.71	15	SNP	0.012	A
CUL1	8454	genome.wustl.edu	37	7	148463718	148463718	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:148463718T>C	ENST00000325222.4	+	8	1134	c.855T>C	c.(853-855)gaT>gaC	p.D285D	CUL1_ENST00000409469.1_Silent_p.D285D|CUL1_ENST00000602748.1_Silent_p.D285D	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCACACAAGATGAATTAGCAA	0.373																																						dbGAP											0													67.0	65.0	66.0					7																	148463718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.855T>C	7.37:g.148463718T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG3|O60719|Q08AL6|Q8IYW1	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.D285	ENST00000325222.4	37	c.855	CCDS34772.1	7																																																																																			CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000055130		0.373	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	36	0.00	0	T	NM_003592		148463718	148463718	+1	no_errors	ENST00000325222	ensembl	human	known	69_37n	silent	32	25.58	11	SNP	0.998	C
CUL2	8453	genome.wustl.edu	37	10	35318555	35318555	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:35318555T>A	ENST00000374748.1	-	16	1713	c.1400A>T	c.(1399-1401)tAt>tTt	p.Y467F	CUL2_ENST00000374742.1_Missense_Mutation_p.Y467F|CUL2_ENST00000374746.1_Missense_Mutation_p.Y467F|CUL2_ENST00000602371.1_Missense_Mutation_p.Y410F|CUL2_ENST00000374749.3_Missense_Mutation_p.Y467F|CUL2_ENST00000374751.3_Missense_Mutation_p.Y467F|CUL2_ENST00000537177.1_Missense_Mutation_p.Y486F			Q13617	CUL2_HUMAN	cullin 2	467					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						GGTAAACTCATAACCACAGGC	0.318																																						dbGAP											0													45.0	44.0	44.0					10																	35318555		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1400A>T	10.37:g.35318555T>A	ENSP00000363880:p.Tyr467Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	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.Y486F	ENST00000374748.1	37	c.1457	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615000	0.87359	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	6.06	6.06	0.98353	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	N	0.05574	-0.02	0.80722	D	1	P;P;P	0.45827	0.867;0.692;0.737	P;B;P	0.54060	0.741;0.389;0.524	T	0.68296	-0.5446	10	0.22109	T	0.4	-20.3043	16.6245	0.84952	0.0:0.0:0.0:1.0	.	467;486;467	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	F	467;467;467;467;410;467;486	ENSP00000363883:Y467F;ENSP00000363880:Y467F;ENSP00000363878:Y467F;ENSP00000363881:Y467F;ENSP00000363874:Y467F;ENSP00000444856:Y486F	ENSP00000363874:Y467F	Y	-	2	0	CUL2	35358561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	TAT	CUL2	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000108094		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	60	0.00	0	T	NM_003591		35318555	35318555	-1	no_errors	ENST00000537177	ensembl	human	known	69_37n	missense	61	25.61	21	SNP	1.000	A
CUL7	9820	genome.wustl.edu	37	6	43018852	43018852	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:43018852A>G	ENST00000265348.3	-	4	1172	c.1087T>C	c.(1087-1089)Ttc>Ctc	p.F363L	CUL7_ENST00000535468.1_Missense_Mutation_p.F447L|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	363	Interaction with TP53.				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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCACTTGCGAACTCAGAACGA	0.592																																						dbGAP											0													104.0	95.0	98.0					6																	43018852		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1087T>C	6.37:g.43018852A>G	ENSP00000265348:p.Phe363Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.F447L	ENST00000265348.3	37	c.1339	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714204	0.89112	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.87887	-2.31;-2.31	5.39	5.39	0.77823	CPH domain (1);Translation protein SH3-like, subgroup (1);	0.261814	0.39615	N	0.001319	D	0.93255	0.7851	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	D	0.94537	0.7741	10	0.87932	D	0	-5.8313	15.3939	0.74774	1.0:0.0:0.0:0.0	.	447;363	F5H0L1;Q14999	.;CUL7_HUMAN	L	363;447	ENSP00000265348:F363L;ENSP00000438788:F447L	ENSP00000265348:F363L	F	-	1	0	CUL7	43126830	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	8.668000	0.91158	2.048000	0.60808	0.460000	0.39030	TTC	CUL7	-	pfam_CPH_domain	ENSG00000044090		0.592	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	77	0.00	0	A	NM_014780		43018852	43018852	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	missense	85	13.27	13	SNP	1.000	G
CXCR4	7852	genome.wustl.edu	37	2	136873066	136873066	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:136873066A>T	ENST00000241393.3	-	2	536	c.432T>A	c.(430-432)agT>agA	p.S144R	CXCR4_ENST00000409817.1_Missense_Mutation_p.S148R|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	144	Involved in dimerization; when bound to chemokine.				activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TTGGCCTCTGACTGTTGGTGG	0.547																																						dbGAP											0													180.0	152.0	161.0					2																	136873066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.432T>A	2.37:g.136873066A>T	ENSP00000241393:p.Ser144Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR4,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.S148R	ENST00000241393.3	37	c.444	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149563	0.57151	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.38240	1.15;1.15	5.79	-0.724	0.11177	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.58814	-0.7570	10	0.59425	D	0.04	.	10.6846	0.45835	0.4167:0.0:0.5833:0.0	.	144;148	P61073;P61073-2	CXCR4_HUMAN;.	R	148;144	ENSP00000386884:S148R;ENSP00000241393:S144R	ENSP00000241393:S144R	S	-	3	2	CXCR4	136589536	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	2.523000	0.45580	-0.115000	0.11915	-0.290000	0.09829	AGT	CXCR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR4	ENSG00000121966		0.547	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	101	0.00	0	A			136873066	136873066	-1	no_errors	ENST00000409817	ensembl	human	known	69_37n	missense	149	19.02	35	SNP	1.000	T
CXorf22	170063	genome.wustl.edu	37	X	35984797	35984797	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:35984797T>C	ENST00000297866.5	+	9	1592	c.1526T>C	c.(1525-1527)tTc>tCc	p.F509S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	509										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						GTAAAATCTTTCCATCACGTA	0.383																																						dbGAP											0													147.0	134.0	138.0					X																	35984797		2202	4299	6501	-	-	-	SO:0001583	missense	0			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.1526T>C	X.37:g.35984797T>C	ENSP00000297866:p.Phe509Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.F509S	ENST00000297866.5	37	c.1526	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360086	0.41801	.	.	ENSG00000165164	ENST00000297866	T	0.17213	2.29	5.7	5.7	0.88788	.	0.108795	0.64402	D	0.000007	T	0.39036	0.1063	M	0.74881	2.28	0.36444	D	0.865647	D	0.89917	1.0	D	0.76575	0.988	T	0.45906	-0.9229	10	0.20519	T	0.43	-26.7736	12.7481	0.57293	0.0:0.0:0.0:1.0	.	509	Q6ZTR5	CX022_HUMAN	S	509	ENSP00000297866:F509S	ENSP00000297866:F509S	F	+	2	0	CXorf22	35894718	1.000000	0.71417	0.287000	0.24848	0.010000	0.07245	5.070000	0.64376	1.917000	0.55516	0.481000	0.45027	TTC	CXorf22	-	NULL	ENSG00000165164		0.383	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	114	0.00	0	T	NM_152632		35984797	35984797	+1	no_errors	ENST00000297866	ensembl	human	known	69_37n	missense	146	24.74	48	SNP	0.951	C
CYLC1	1538	genome.wustl.edu	37	X	83128683	83128683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:83128683delA	ENST00000329312.4	+	4	1004	c.967delA	c.(967-969)aaafs	p.K324fs		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	324					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K323E(1)|p.K322E(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGATGACAAGAAAAAGGATGT	0.333																																						dbGAP											2	Substitution - Missense(2)	lung(2)											46.0	42.0	43.0					X																	83128683		2196	4295	6491	-	-	-	SO:0001589	frameshift_variant	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.967delA	X.37:g.83128683delA	ENSP00000331556:p.Lys324fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ8|Q5JQQ9	Frame_Shift_Del	DEL	NULL	p.K324fs	ENST00000329312.4	37	c.967	CCDS35341.1	X																																																																																			CYLC1	-	NULL	ENSG00000183035		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	41	0.00	0	A	NM_021118		83128683	83128683	+1	no_errors	ENST00000329312	ensembl	human	known	69_37n	frame_shift_del	38	26.42	14	DEL	0.011	-
CYP26B1	56603	genome.wustl.edu	37	2	72362450	72362450	+	Frame_Shift_Del	DEL	G	G	-	rs143775993		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:72362450delG	ENST00000001146.2	-	3	731	c.528delC	c.(526-528)cccfs	p.P176fs	CYP26B1_ENST00000546307.1_Frame_Shift_Del_p.P101fs|CYP26B1_ENST00000412253.1_5'UTR	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	176					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGATGGCCTCGGGGTGGCTGC	0.627																																						dbGAP											0													95.0	93.0	93.0					2																	72362450		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.528delC	2.37:g.72362450delG	ENSP00000001146:p.Pro176fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450	p.E177fs	ENST00000001146.2	37	c.528	CCDS1919.1	2																																																																																			CYP26B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000003137		0.627	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26B1	HGNC	protein_coding	OTTHUMT00000251969.1	36	0.00	0	G	NM_019885		72362450	72362450	-1	no_errors	ENST00000001146	ensembl	human	known	69_37n	frame_shift_del	33	25.00	11	DEL	0.036	-
CYP2S1	29785	genome.wustl.edu	37	19	41707175	41707175	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:41707175A>G	ENST00000310054.4	+	6	1090	c.874A>G	c.(874-876)Atg>Gtg	p.M292V	CYP2S1_ENST00000542619.1_Missense_Mutation_p.M17V	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	292					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAACAAGAACATGCTGATGAC	0.493																																						dbGAP											0													119.0	110.0	113.0					19																	41707175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.874A>G	19.37:g.41707175A>G	ENSP00000308032:p.Met292Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZ66	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.M292V	ENST00000310054.4	37	c.874	CCDS12573.1	19	.	.	.	.	.	.	.	.	.	.	A	10.16	1.272604	0.23221	.	.	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	T;T	0.65364	-0.15;-0.15	5.2	0.693	0.18056	.	1.015160	0.07888	N	0.970699	T	0.35740	0.0942	N	0.04724	-0.175	0.19575	N	0.999968	B;B	0.17852	0.024;0.002	B;B	0.19666	0.026;0.011	T	0.30851	-0.9964	10	0.72032	D	0.01	.	0.2507	0.00205	0.3081:0.1721:0.1478:0.372	.	17;292	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	V	292;292;17	ENSP00000308032:M292V;ENSP00000445299:M17V	ENSP00000301173:M292V	M	+	1	0	CYP2S1	46399015	0.001000	0.12720	0.968000	0.41197	0.556000	0.35491	-1.420000	0.02457	-0.003000	0.14444	-0.705000	0.03659	ATG	CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000167600		0.493	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	65	0.00	0	A			41707175	41707175	+1	no_errors	ENST00000310054	ensembl	human	known	69_37n	missense	79	27.52	30	SNP	0.696	G
CYP39A1	51302	genome.wustl.edu	37	6	46563859	46563859	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:46563859T>C	ENST00000275016.2	-	8	1135		c.e8-2			NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|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)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TATCTTTGCCTGTAAAAAAAT	0.373																																						dbGAP											0													43.0	47.0	46.0					6																	46563859		2200	4296	6496	-	-	-	SO:0001630	splice_region_variant	0			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.932-2A>G	6.37:g.46563859T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTT0|Q96FW5	Splice_Site	SNP	-	e8-2	ENST00000275016.2	37	c.932-2	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	T	11.45	1.642803	0.29246	.	.	ENSG00000146233	ENST00000275016	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4313	0.67251	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP39A1	46671818	1.000000	0.71417	0.998000	0.56505	0.168000	0.22595	5.723000	0.68492	2.142000	0.66516	0.455000	0.32223	.	CYP39A1	-	-	ENSG00000146233		0.373	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	81	0.00	0	T		Intron	46563859	46563859	-1	no_errors	ENST00000275016	ensembl	human	known	69_37n	splice_site	81	39.10	52	SNP	1.000	C
CYP3A5	1577	genome.wustl.edu	37	7	99247813	99247813	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:99247813T>C	ENST00000222982.4	-	12	1395	c.1296A>G	c.(1294-1296)acA>acG	p.T432T	CYP3A5_ENST00000343703.5_Silent_p.T422T|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	432					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTCCAAAGGGTGTGTATATGT	0.383																																						dbGAP											0													317.0	274.0	289.0					7																	99247813		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1296A>G	7.37:g.99247813T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.T432	ENST00000222982.4	37	c.1296	CCDS5672.1	7																																																																																			CYP3A5	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	ENSG00000106258		0.383	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1	280	0.35	1	T			99247813	99247813	-1	no_errors	ENST00000222982	ensembl	human	known	69_37n	silent	372	22.89	111	SNP	0.776	C
CYTIP	9595	genome.wustl.edu	37	2	158300407	158300407	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:158300407A>G	ENST00000264192.3	-	1	247	c.126T>C	c.(124-126)atT>atC	p.I42I	CYTIP_ENST00000497432.1_Intron|AC019201.1_ENST00000401235.1_RNA|CYTIP_ENST00000540637.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	42					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTAGCATTTGAATCCTTCTAT	0.507																																						dbGAP											0													178.0	152.0	161.0					2																	158300407		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.126T>C	2.37:g.158300407A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWH9|Q15630|Q8NE32	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I42	ENST00000264192.3	37	c.126	CCDS2204.1	2																																																																																			CYTIP	-	NULL	ENSG00000115165		0.507	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	92	0.00	0	A	NM_004288		158300407	158300407	-1	no_errors	ENST00000264192	ensembl	human	known	69_37n	silent	124	33.33	62	SNP	0.998	G
DAAM1	23002	genome.wustl.edu	37	14	59789672	59789672	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:59789672T>C	ENST00000395125.1	+	5	526	c.503T>C	c.(502-504)aTg>aCg	p.M168T	DAAM1_ENST00000351081.1_Missense_Mutation_p.M168T|DAAM1_ENST00000360909.3_Missense_Mutation_p.M168T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	168	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTAAAGACCATGGACTACGAG	0.448																																						dbGAP											0													144.0	138.0	140.0					14																	59789672		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.503T>C	14.37:g.59789672T>C	ENSP00000378557:p.Met168Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.M168T	ENST00000395125.1	37	c.503	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594348	0.66219	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89415	-2.51;-2.51;-2.51	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.86953	2.85	0.80722	D	1	D;D	0.54772	0.96;0.968	D;D	0.67900	0.922;0.954	D	0.94509	0.7717	10	0.42905	T	0.14	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	168;168	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	T	168	ENSP00000354162:M168T;ENSP00000247170:M168T;ENSP00000378557:M168T	ENSP00000247170:M168T	M	+	2	0	DAAM1	58859425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATG	DAAM1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000100592		0.448	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	94	0.00	0	T	NM_014992		59789672	59789672	+1	no_errors	ENST00000351081	ensembl	human	known	69_37n	missense	70	33.96	36	SNP	1.000	C
DAPK1	1612	genome.wustl.edu	37	9	90114005	90114005	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:90114005A>G	ENST00000408954.3	+	2	348	c.13A>G	c.(13-15)Agg>Ggg	p.R5G	DAPK1_ENST00000358077.5_Missense_Mutation_p.R5G|DAPK1_ENST00000472284.1_Missense_Mutation_p.R5G|DAPK1_ENST00000469640.2_Missense_Mutation_p.R5G|DAPK1_ENST00000491893.1_Missense_Mutation_p.R5G	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	5					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GACCGTGTTCAGGCAGGAAAA	0.572									Chronic Lymphocytic Leukemia, Familial Clustering of																													dbGAP											0													105.0	114.0	111.0					9																	90114005		2123	4232	6355	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.13A>G	9.37:g.90114005A>G	ENSP00000386135:p.Arg5Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.R5G	ENST00000408954.3	37	c.13	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206164	0.39003	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.26	5.32	2.88	0.33553	Protein kinase-like domain (1);	0.162857	0.28760	N	0.014239	T	0.43033	0.1229	N	0.12746	0.255	0.34652	D	0.721754	P;B;B	0.36837	0.571;0.196;0.124	B;B;B	0.31686	0.134;0.042;0.015	T	0.52873	-0.8517	10	0.48119	T	0.1	.	9.4148	0.38514	0.6502:0.3498:0.0:0.0	.	5;5;5	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	G	5	ENSP00000350785:R5G;ENSP00000417076:R5G;ENSP00000418885:R5G;ENSP00000386135:R5G;ENSP00000419026:R5G	ENSP00000350785:R5G	R	+	1	2	DAPK1	89303825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.975000	0.40569	0.420000	0.25954	0.533000	0.62120	AGG	DAPK1	-	superfamily_Kinase-like_dom	ENSG00000196730		0.572	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	129	0.00	0	A	NM_004938		90114005	90114005	+1	no_errors	ENST00000469640	ensembl	human	known	69_37n	missense	158	11.24	20	SNP	1.000	G
DCAF4	26094	genome.wustl.edu	37	14	73408476	73408476	+	Silent	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:73408476A>T	ENST00000358377.2	+	5	595	c.375A>T	c.(373-375)gcA>gcT	p.A125A	DCAF4_ENST00000394234.2_Silent_p.A25A|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000555042.1_Silent_p.A125A|DCAF4_ENST00000553457.1_Silent_p.A25A|DCAF4_ENST00000353777.3_Intron	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	125					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GATTTAATGCATCTTCCATGC	0.353																																						dbGAP											0													149.0	153.0	152.0					14																	73408476		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.375A>T	14.37:g.73408476A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A125	ENST00000358377.2	37	c.375	CCDS9809.1	14																																																																																			DCAF4	-	NULL	ENSG00000119599		0.353	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1	112	0.00	0	A	NM_015604		73408476	73408476	+1	no_errors	ENST00000358377	ensembl	human	known	69_37n	silent	92	37.41	55	SNP	0.839	T
DCDC1	341019	genome.wustl.edu	37	11	31287064	31287064	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:31287064A>G	ENST00000452803.1	-	8	1245	c.1044T>C	c.(1042-1044)gaT>gaC	p.D348D	DCDC1_ENST00000597505.1_Silent_p.D348D	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	348					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTTTGAAATATCTTCAATTT	0.239																																						dbGAP											0													38.0	45.0	43.0					11																	31287064		2164	4201	6365	-	-	-	SO:0001819	synonymous_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.1044T>C	11.37:g.31287064A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	superfamily_Doublecortin_dom,pfscan_Doublecortin_dom	p.D348	ENST00000452803.1	37	c.1044	CCDS7872.1	11																																																																																			DCDC1	-	superfamily_Doublecortin_dom	ENSG00000188682		0.239	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000316531.1	50	0.00	0	A	NM_181807		31287064	31287064	-1	no_errors	ENST00000452803	ensembl	human	known	69_37n	silent	57	25.00	19	SNP	0.927	G
DCST2	127579	genome.wustl.edu	37	1	154999032	154999032	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:154999032A>T	ENST00000368424.3	-	9	1560	c.1502T>A	c.(1501-1503)aTa>aAa	p.I501K	DCST2_ENST00000295536.5_Missense_Mutation_p.I501K	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	501						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCAATGACTATGTAGCCAGT	0.577																																						dbGAP											0													146.0	139.0	141.0					1																	154999032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1502T>A	1.37:g.154999032A>T	ENSP00000357409:p.Ile501Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.I501K	ENST00000368424.3	37	c.1502	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	A	7.983	0.751524	0.15778	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.31510	1.49;1.49	4.96	2.52	0.30459	Dendritic cell-specific transmembrane protein-like (1);	1.363430	0.05190	N	0.503017	T	0.09686	0.0238	L	0.38175	1.15	0.09310	N	1	B	0.21225	0.053	B	0.24541	0.054	T	0.24368	-1.0162	10	0.26408	T	0.33	-1.1842	4.6958	0.12802	0.7384:0.0:0.0929:0.1687	.	501	Q5T1A1	DCST2_HUMAN	K	501	ENSP00000357409:I501K;ENSP00000295536:I501K	ENSP00000295536:I501K	I	-	2	0	DCST2	153265656	0.000000	0.05858	0.004000	0.12327	0.054000	0.15201	1.050000	0.30404	1.859000	0.53934	0.482000	0.46254	ATA	DCST2	-	pfam_DC_STAMP-like	ENSG00000163354		0.577	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	31	0.00	0	A	NM_144622		154999032	154999032	-1	no_errors	ENST00000368424	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.001	T
DCTN2	10540	genome.wustl.edu	37	12	57924554	57924554	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:57924554T>C	ENST00000548249.1	-	14	1391	c.1124A>G	c.(1123-1125)cAg>cGg	p.Q375R	DCTN2_ENST00000543672.1_Missense_Mutation_p.Q380R|DCTN2_ENST00000537439.1_Missense_Mutation_p.Q352R|DCTN2_ENST00000434715.3_Missense_Mutation_p.Q380R	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	375					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CATGGTTGTCTGCACCTACAA	0.473																																						dbGAP											0													182.0	167.0	172.0					12																	57924554		1898	4130	6028	-	-	-	SO:0001583	missense	0			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.1124A>G	12.37:g.57924554T>C	ENSP00000447824:p.Gln375Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	pfam_Dynamitin_2su	p.Q380R	ENST00000548249.1	37	c.1139	CCDS58245.1	12	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981768	0.74474	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.82823	2.61	0.80722	D	1	D;D;D	0.59767	0.973;0.986;0.978	P;P;P	0.60012	0.791;0.791;0.867	T	0.79460	-0.1794	9	0.46703	T	0.11	-3.4391	14.0808	0.64919	0.0:0.0:0.0:1.0	.	351;380;375	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	R	375;380;380;352;351;288;242	.	ENSP00000346785:Q351R	Q	-	2	0	DCTN2	56210821	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.667000	0.74451	2.220000	0.72140	0.533000	0.62120	CAG	DCTN2	-	pfam_Dynamitin_2su	ENSG00000175203		0.473	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN2	HGNC	protein_coding	OTTHUMT00000407393.2	141	0.00	0	T	NM_006400		57924554	57924554	-1	no_errors	ENST00000434715	ensembl	human	known	69_37n	missense	110	38.89	70	SNP	1.000	C
DCUN1D2	55208	genome.wustl.edu	37	13	114138363	114138363	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:114138363A>G	ENST00000478244.1	-	2	294	c.12T>C	c.(10-12)ctT>ctC	p.L4L	DCUN1D2_ENST00000375399.2_Silent_p.L4L|DCUN1D2_ENST00000460318.1_5'Flank|DCUN1D2_ENST00000332592.3_Intron	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	4										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			GAGACGATTTAAGCTTATGCT	0.493																																						dbGAP											0													100.0	90.0	93.0					13																	114138363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.12T>C	13.37:g.114138363A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	pfam_PONY_dom,superfamily_UBA-like	p.L62S	ENST00000478244.1	37	c.185	CCDS32013.1	13																																																																																			DCUN1D2	-	superfamily_UBA-like	ENSG00000150401		0.493	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D2	HGNC	protein_coding	OTTHUMT00000045938.4	39	0.00	0	A	NM_018185		114138363	114138363	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000438545	ensembl	human	known	69_37n	missense	31	45.61	26	SNP	0.928	G
DDHD2	23259	genome.wustl.edu	37	8	38117571	38117571	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:38117571A>G	ENST00000397166.2	+	17	2593	c.2068A>G	c.(2068-2070)Aca>Gca	p.T690A	DDHD2_ENST00000529845.1_Missense_Mutation_p.T141A|DDHD2_ENST00000517385.1_Missense_Mutation_p.T309A|DDHD2_ENST00000520272.2_Missense_Mutation_p.T690A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	690	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GTCTGAAGATACAGTATTGCT	0.353																																						dbGAP											0													131.0	132.0	132.0					8																	38117571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.2068A>G	8.37:g.38117571A>G	ENSP00000380352:p.Thr690Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom	p.T690A	ENST00000397166.2	37	c.2068	CCDS34883.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.761598|4.761598	0.89932|0.89932	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000526144|ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845;ENST00000528613	.|T;T	.|0.35605	.|1.3;1.3	5.81|5.81	5.81|5.81	0.92471|0.92471	.|DDHD (2);	.|0.049907	.|0.85682	.|D	.|0.000000	T|T	0.41971|0.41971	0.1182|0.1182	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	.|P	.|0.45396	.|0.857	.|P	.|0.48400	.|0.576	T|T	0.13899|0.13899	-1.0492|-1.0492	5|10	.|0.33940	.|T	.|0.23	-15.4089|-15.4089	15.3361|15.3361	0.74255|0.74255	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|690	.|O94830	.|DDHD2_HUMAN	M|A	191|690;690;309;141;58	.|ENSP00000380352:T690A;ENSP00000429932:T690A	.|ENSP00000380352:T690A	I|T	+|+	3|1	3|0	DDHD2|DDHD2	38236728|38236728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	9.162000|9.162000	0.94745|0.94745	2.221000|2.221000	0.72209|0.72209	0.533000|0.533000	0.62120|0.62120	ATA|ACA	DDHD2	-	pfam_DDHD,pfscan_DDHD	ENSG00000085788		0.353	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	173	0.00	0	A	XM_291291		38117571	38117571	+1	no_errors	ENST00000397166	ensembl	human	known	69_37n	missense	188	31.27	86	SNP	1.000	G
DDX39B	7919	genome.wustl.edu	37	6	31498878	31498878	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:31498878A>G	ENST00000396172.1	-	9	1704	c.1074T>C	c.(1072-1074)atT>atC	p.I358I	DDX39B_ENST00000376177.2_Silent_p.I358I|DDX39B_ENST00000417556.2_Silent_p.I373I|DDX39B_ENST00000458640.1_Silent_p.I358I|DDX39B_ENST00000415382.2_Silent_p.I280I|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000462421.1_5'Flank	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	358	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AATTAAAAGCAATGTTCACCC	0.453																																						dbGAP											0													65.0	60.0	62.0					6																	31498878		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1074T>C	6.37:g.31498878A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.L122S	ENST00000396172.1	37	c.365	CCDS4697.1	6	.	.	.	.	.	.	.	.	.	.	A	11.36	1.615080	0.28712	.	.	ENSG00000198563	ENST00000417023	.	.	.	5.32	-7.54	0.01332	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54476	-0.8288	4	.	.	.	-12.7255	10.1329	0.42689	0.377:0.0:0.5222:0.1008	.	.	.	.	S	122	.	.	L	-	2	0	DDX39B	31606857	0.043000	0.20138	0.867000	0.34043	0.993000	0.82548	-0.690000	0.05138	-1.335000	0.02241	0.460000	0.39030	TTG	DDX39B	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000198563		0.453	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39B	HGNC	protein_coding	OTTHUMT00000259083.1	65	0.00	0	A	NM_004640		31498878	31498878	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000417023	ensembl	human	putative	69_37n	missense	58	34.83	31	SNP	0.797	G
DDX41	51428	genome.wustl.edu	37	5	176939145	176939145	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:176939145C>T	ENST00000507955.1	-	16	2207	c.1684G>A	c.(1684-1686)Gtg>Atg	p.V562M	DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000357198.4_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	562	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ACCTGCAGCACGGGCGGCACC	0.637																																						dbGAP											0													68.0	65.0	66.0					5																	176939145		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1684G>A	5.37:g.176939145C>T	ENSP00000422753:p.Val562Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V562M	ENST00000507955.1	37	c.1684	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153235	0.38021	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.92495	-3.05;-3.05	5.88	4.98	0.66077	Helicase, C-terminal (1);	0.060219	0.64402	N	0.000003	D	0.85725	0.5763	N	0.20986	0.625	0.80722	D	1	B	0.24882	0.113	B	0.17433	0.018	T	0.81529	-0.0891	10	0.33141	T	0.24	-24.2406	14.1657	0.65475	0.0:0.9252:0.0:0.0748	.	562	Q9UJV9	DDX41_HUMAN	M	580;562	ENSP00000330349:V580M;ENSP00000422753:V562M	ENSP00000330349:V580M	V	-	1	0	DDX41	176871751	1.000000	0.71417	0.695000	0.30226	0.220000	0.24768	5.831000	0.69330	1.421000	0.47157	0.650000	0.86243	GTG	DDX41	-	pfscan_Helicase_C	ENSG00000183258		0.637	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	33	0.00	0	C	NM_016222		176939145	176939145	-1	no_errors	ENST00000507955	ensembl	human	known	69_37n	missense	33	36.54	19	SNP	1.000	T
DDX58	23586	genome.wustl.edu	37	9	32487531	32487531	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:32487531A>G	ENST00000379883.2	-	9	1470	c.1313T>C	c.(1312-1314)gTg>gCg	p.V438A	DDX58_ENST00000542096.1_Missense_Mutation_p.V367A|DDX58_ENST00000379868.1_Missense_Mutation_p.V235A|DDX58_ENST00000545044.1_Missense_Mutation_p.V235A|DDX58_ENST00000379882.1_Missense_Mutation_p.V393A	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	438	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTTGCTATCACTGACGCATC	0.453																																						dbGAP											0													139.0	124.0	129.0					9																	32487531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1313T>C	9.37:g.32487531A>G	ENSP00000369213:p.Val438Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V438A	ENST00000379883.2	37	c.1313	CCDS6526.1	9	.	.	.	.	.	.	.	.	.	.	A	7.815	0.716487	0.15306	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.09723	3.52;3.51;3.41;3.39;2.95	4.84	2.46	0.29980	DEAD-like helicase (1);ATPase, AAA+ type, core (1);	0.342037	0.22693	N	0.056795	T	0.09774	0.0240	M	0.66939	2.045	0.30440	N	0.776286	B;B;B;B	0.30763	0.215;0.282;0.101;0.294	B;B;B;B	0.30316	0.101;0.114;0.029;0.078	T	0.25398	-1.0133	10	0.08599	T	0.76	-4.9793	5.9581	0.19286	0.7715:0.0:0.0819:0.1466	.	235;393;367;438	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	A	393;438;235;367;235	ENSP00000369212:V393A;ENSP00000369213:V438A;ENSP00000369197:V235A;ENSP00000442160:V367A;ENSP00000443055:V235A	ENSP00000369197:V235A	V	-	2	0	DDX58	32477531	0.997000	0.39634	0.963000	0.40424	0.482000	0.33219	2.245000	0.43133	0.296000	0.22592	-0.344000	0.07964	GTG	DDX58	-	smart_Helicase_ATP-bd	ENSG00000107201		0.453	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1	55	0.00	0	A	NM_014314		32487531	32487531	-1	no_errors	ENST00000379883	ensembl	human	known	69_37n	missense	117	19.86	29	SNP	0.994	G
DENND4B	9909	genome.wustl.edu	37	1	153914686	153914686	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:153914686G>A	ENST00000361217.4	-	5	1205	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	263	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCACCCGTGAGCACAAAGGTG	0.642																																						dbGAP											0													69.0	80.0	76.0					1																	153914686		2104	4211	6315	-	-	-	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.787C>T	1.37:g.153914686G>A	ENSP00000354597:p.Leu263Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L263F	ENST00000361217.4	37	c.787	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760206	0.69763	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.66815	-0.23;-0.23	4.63	3.72	0.42706	uDENN (3);	.	.	.	.	T	0.79009	0.4374	M	0.91300	3.195	0.58432	D	0.999997	D	0.76494	0.999	D	0.91635	0.999	T	0.82259	-0.0546	9	0.87932	D	0	-10.9398	8.8536	0.35214	0.1816:0.0:0.8184:0.0	.	263	O75064	DEN4B_HUMAN	F	263;274	ENSP00000354597:L263F;ENSP00000357635:L274F	ENSP00000354597:L263F	L	-	1	0	DENND4B	152181310	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.398000	0.66308	1.184000	0.42957	0.563000	0.77884	CTC	DENND4B	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000198837		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	56	0.00	0	G	XM_375806		153914686	153914686	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	1.000	A
DGKE	8526	genome.wustl.edu	37	17	54939578	54939578	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:54939578A>T	ENST00000284061.3	+	11	1670	c.1490A>T	c.(1489-1491)aAt>aTt	p.N497I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	497					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AAACTGGCTAATCCTTTTCGA	0.393																																						dbGAP											0													92.0	84.0	87.0					17																	54939578		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1490A>T	17.37:g.54939578A>T	ENSP00000284061:p.Asn497Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.N497I	ENST00000284061.3	37	c.1490	CCDS11590.1	17	.	.	.	.	.	.	.	.	.	.	A	28.8	4.950588	0.92660	.	.	ENSG00000153933	ENST00000284061	T	0.44881	0.91	5.36	5.36	0.76844	Diacylglycerol kinase, accessory domain (2);	0.127244	0.64402	D	0.000001	T	0.55545	0.1927	L	0.54323	1.7	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.58331	0.837;0.837	T	0.53809	-0.8386	10	0.41790	T	0.15	.	15.6978	0.77515	1.0:0.0:0.0:0.0	.	497;497	A1L4Q0;P52429	.;DGKE_HUMAN	I	497	ENSP00000284061:N497I	ENSP00000284061:N497I	N	+	2	0	DGKE	52294577	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	8.768000	0.91737	2.150000	0.67090	0.529000	0.55759	AAT	DGKE	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000153933		0.393	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKE	HGNC	protein_coding	OTTHUMT00000440601.1	72	0.00	0	A	NM_003647		54939578	54939578	+1	no_errors	ENST00000284061	ensembl	human	known	69_37n	missense	82	16.33	16	SNP	1.000	T
DGKK	139189	genome.wustl.edu	37	X	50135430	50135430	+	RNA	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:50135430T>C	ENST00000376025.2	-	0	1672							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCGAGCAAAGTTCTTGAACAT	0.458																																						dbGAP											0													86.0	80.0	82.0					X																	50135430		1993	4161	6154	-	-	-			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50135430T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.458	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	49	0.00	0	T	NM_001013742		50135430	50135430	-1	no_errors	ENST00000376025	ensembl	human	known	69_37n	rna	61	18.67	14	SNP	1.000	C
DHRS7B	25979	genome.wustl.edu	37	17	21087713	21087713	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:21087713C>A	ENST00000395511.3	+	5	876	c.556C>A	c.(556-558)Caa>Aaa	p.Q186K	DHRS7B_ENST00000581463.1_Missense_Mutation_p.Q6K|DHRS7B_ENST00000579303.1_Missense_Mutation_p.Q171K	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	186						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CAAGAGGAGGCAAGGCCACAT	0.532																																						dbGAP											0													162.0	127.0	139.0					17																	21087713		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.556C>A	17.37:g.21087713C>A	ENSP00000378887:p.Gln186Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.Q186K	ENST00000395511.3	37	c.556	CCDS11215.1	17	.	.	.	.	.	.	.	.	.	.	C	8.787	0.929607	0.18131	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	D	0.87256	-2.23	5.21	3.18	0.36537	NAD(P)-binding domain (1);	0.424701	0.27861	N	0.017549	T	0.67878	0.2940	N	0.02916	-0.46	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.54860	-0.8230	10	0.21014	T	0.42	.	8.5659	0.33538	0.2712:0.6563:0.0:0.0725	.	186	Q6IAN0	DRS7B_HUMAN	K	186	ENSP00000378887:Q186K	ENSP00000320352:Q186K	Q	+	1	0	DHRS7B	21028305	0.973000	0.33851	0.011000	0.14972	0.784000	0.44337	1.532000	0.36029	0.557000	0.29117	0.585000	0.79938	CAA	DHRS7B	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH	ENSG00000109016		0.532	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHRS7B	HGNC	protein_coding	OTTHUMT00000444066.3	65	0.00	0	C	NM_015510		21087713	21087713	+1	no_errors	ENST00000395511	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	0.007	A
DIDO1	11083	genome.wustl.edu	37	20	61542836	61542836	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:61542836C>T	ENST00000266070.4	-	3	454	c.129G>A	c.(127-129)gcG>gcA	p.A43A	DIDO1_ENST00000395335.2_Silent_p.A43A|DIDO1_ENST00000395340.1_Silent_p.A43A|DIDO1_ENST00000370371.4_Silent_p.A43A|DIDO1_ENST00000395343.1_Silent_p.A43A|DIDO1_ENST00000370368.1_Silent_p.A43A|DIDO1_ENST00000354665.4_Silent_p.A43A|DIDO1_ENST00000266071.5_Silent_p.A43A|DIDO1_ENST00000370366.1_Silent_p.A43A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	43					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCAGCCTCCGCGTCCCCTG	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													39.0	43.0	42.0					20																	61542836		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.129G>A	20.37:g.61542836C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.A43	ENST00000266070.4	37	c.129	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	59	0.00	0	C	NM_080796		61542836	61542836	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	silent	33	32.65	16	SNP	0.000	T
DIP2C	22982	genome.wustl.edu	37	10	395333	395333	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:395333A>G	ENST00000280886.6	-	25	3134	c.3047T>C	c.(3046-3048)gTg>gCg	p.V1016A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1016						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATCAGCATCACGGCGATCTT	0.612																																						dbGAP											0													116.0	86.0	96.0					10																	395333		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3047T>C	10.37:g.395333A>G	ENSP00000280886:p.Val1016Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPI5|Q5SS78	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1016A	ENST00000280886.6	37	c.3047	CCDS7054.1	10	.	.	.	.	.	.	.	.	.	.	A	1.482	-0.556847	0.03967	.	.	ENSG00000151240	ENST00000280886	T	0.37411	1.2	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.128780	0.53938	D	0.000058	T	0.11793	0.0287	N	0.00801	-1.175	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25082	-1.0142	10	0.02654	T	1	-26.3503	15.0483	0.71844	1.0:0.0:0.0:0.0	.	1016	Q9Y2E4	DIP2C_HUMAN	A	1016	ENSP00000280886:V1016A	ENSP00000280886:V1016A	V	-	2	0	DIP2C	385333	1.000000	0.71417	0.997000	0.53966	0.383000	0.30230	4.923000	0.63412	1.952000	0.56665	0.460000	0.39030	GTG	DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.612	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	60	0.00	0	A	NM_014974		395333	395333	-1	no_errors	ENST00000280886	ensembl	human	known	69_37n	missense	84	20.75	22	SNP	1.000	G
DIRAS1	148252	genome.wustl.edu	37	19	2717406	2717406	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:2717406G>A	ENST00000323469.4	-	2	582	c.399C>T	c.(397-399)cgC>cgT	p.R133R	DIRAS1_ENST00000585334.1_Silent_p.R133R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	133					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CCTGCGCCTCGCGCGTGTCCA	0.612																																						dbGAP											0													79.0	68.0	72.0					19																	2717406		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.399C>T	19.37:g.2717406G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		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.R133	ENST00000323469.4	37	c.399	CCDS12092.1	19																																																																																			DIRAS1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000176490		0.612	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS1	HGNC	protein_coding	OTTHUMT00000451350.1	42	0.00	0	G			2717406	2717406	-1	no_errors	ENST00000323469	ensembl	human	known	69_37n	silent	39	17.02	8	SNP	1.000	A
DIS3L	115752	genome.wustl.edu	37	15	66613033	66613033	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:66613033delA	ENST00000319212.4	+	9	1339	c.1289delA	c.(1288-1290)gaafs	p.E430fs	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Frame_Shift_Del_p.G239fs|DIS3L_ENST00000319194.5_Frame_Shift_Del_p.E347fs	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	430					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCCTGGTGGAAAACAGTATT	0.398																																						dbGAP											0													177.0	170.0	172.0					15																	66613033		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1289delA	15.37:g.66613033delA	ENSP00000321711:p.Glu430fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1N8|Q8WTU9|Q96CM7	Frame_Shift_Del	DEL	pfam_RNase_II/R,smart_RNase_II/R	p.N431fs	ENST00000319212.4	37	c.1289	CCDS45286.1	15																																																																																			DIS3L	-	NULL	ENSG00000166938		0.398	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	134	0.00	0	A	NM_133375		66613033	66613033	+1	no_errors	ENST00000319212	ensembl	human	known	69_37n	frame_shift_del	189	30.80	85	DEL	1.000	-
DLAT	1737	genome.wustl.edu	37	11	111904183	111904183	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:111904183delA	ENST00000280346.6	+	5	1375	c.716delA	c.(715-717)gaafs	p.E239fs	RNU6-893P_ENST00000458841.1_RNA|DLAT_ENST00000393051.1_Intron|DLAT_ENST00000537636.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	239	Lipoyl-binding 2. {ECO:0000255|PROSITE- ProRule:PRU01066}.				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)		CAGAGATGGGAAAAAAAAGTG	0.433																																						dbGAP											0													76.0	76.0	76.0					11																	111904183		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			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.716delA	11.37:g.111904183delA	ENSP00000280346:p.Glu239fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16783|Q53EP3	Frame_Shift_Del	DEL	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.V242fs	ENST00000280346.6	37	c.716	CCDS8354.1	11																																																																																			DLAT	-	pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	ENSG00000150768		0.433	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1	68	0.00	0	A	NM_001931		111904183	111904183	+1	no_errors	ENST00000280346	ensembl	human	known	69_37n	frame_shift_del	54	26.67	20	DEL	1.000	-
DLC1	10395	genome.wustl.edu	37	8	12957700	12957700	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:12957700T>A	ENST00000276297.4	-	9	2555	c.2146A>T	c.(2146-2148)Atc>Ttc	p.I716F	DLC1_ENST00000520226.1_Missense_Mutation_p.I205F|DLC1_ENST00000358919.2_Missense_Mutation_p.I279F|DLC1_ENST00000512044.2_Missense_Mutation_p.I313F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	716	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGGGCGGAGATCTCCACGCAG	0.582																																						dbGAP											0													87.0	74.0	78.0					8																	12957700		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2146A>T	8.37:g.12957700T>A	ENSP00000276297:p.Ile716Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.I716F	ENST00000276297.4	37	c.2146	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405160	0.83230	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.09255	3.26;3.02;3.02;3.0	4.84	4.84	0.62591	.	0.051343	0.85682	D	0.000000	T	0.30510	0.0767	M	0.79258	2.445	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.977	P;P;P	0.60173	0.87;0.852;0.656	T	0.05037	-1.0910	10	0.59425	D	0.04	.	14.914	0.70781	0.0:0.0:0.0:1.0	.	716;313;279	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	F	716;279;313;205	ENSP00000276297:I716F;ENSP00000351797:I279F;ENSP00000422595:I313F;ENSP00000428028:I205F	ENSP00000276297:I716F	I	-	1	0	DLC1	13002071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.119000	0.71590	2.168000	0.68352	0.533000	0.62120	ATC	DLC1	-	NULL	ENSG00000164741		0.582	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	51	0.00	0	T	NM_182643, NM_006094		12957700	12957700	-1	no_errors	ENST00000276297	ensembl	human	known	69_37n	missense	56	37.08	33	SNP	1.000	A
DLGAP1	9229	genome.wustl.edu	37	18	3879223	3879223	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:3879223C>T	ENST00000315677.3	-	4	1441	c.846G>A	c.(844-846)acG>acA	p.T282T	DLGAP1_ENST00000581527.1_Silent_p.T282T|DLGAP1_ENST00000584874.1_Silent_p.T282T|DLGAP1_ENST00000515196.2_Silent_p.T282T|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	282					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCACGGTGAGCGTGGAGGACC	0.647																																						dbGAP											0													55.0	52.0	53.0					18																	3879223		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.846G>A	18.37:g.3879223C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	pfam_GKAP	p.T282	ENST00000315677.3	37	c.846	CCDS11836.1	18																																																																																			DLGAP1	-	NULL	ENSG00000170579		0.647	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	29	0.00	0	C			3879223	3879223	-1	no_errors	ENST00000315677	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	0.007	T
DMD	1756	genome.wustl.edu	37	X	31341728	31341728	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:31341728G>C	ENST00000357033.4	-	62	9417	c.9211C>G	c.(9211-9213)Ccc>Gcc	p.P3071A	DMD_ENST00000378707.3_Missense_Mutation_p.P611A|DMD_ENST00000359836.1_Missense_Mutation_p.P611A|DMD_ENST00000378677.2_Missense_Mutation_p.P3067A|DMD_ENST00000343523.2_Missense_Mutation_p.P611A|DMD_ENST00000541735.1_Missense_Mutation_p.P611A|DMD_ENST00000474231.1_Missense_Mutation_p.P611A	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	3071	Interaction with SYNM. {ECO:0000250}.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)				ATATAGTAGGGCACTTTGTTT	0.393																																						dbGAP											0													85.0	70.0	75.0					X																	31341728		2202	4300	6502	-	-	-	SO:0001583	missense	0			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.9211C>G	X.37:g.31341728G>C	ENSP00000354923:p.Pro3071Ala	Somatic		WXS	Illumina GAIIx	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.P3071A	ENST00000357033.4	37	c.9211	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.119141|4.119141	0.77323|0.77323	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|D;D;D;D;D;D;D;D	.|0.83506	.|-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.59|5.59	5.59|5.59	0.84812|0.84812	.|WW/Rsp5/WWP (6);	.|0.000000	.|0.34879	.|U	.|0.003610	D|D	0.90728|0.90728	0.7090|0.7090	M|M	0.70595|0.70595	2.14|2.14	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.995	.|D;D;D;D;D;D;D;D;D;D;P	.|0.97110	.|0.997;0.994;0.994;0.994;0.994;1.0;1.0;1.0;0.994;0.989;0.799	D|D	0.90135|0.90135	0.4209|0.4209	5|9	.|.	.|.	.|.	.|.	18.8394|18.8394	0.92176|0.92176	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3063;3071;3067;1730;1727;611;611;611;611;611;2948	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	G|A	799|3063;1730;1727;767;3067;3071;611;611;3071;2948;611;611;611	.|ENSP00000350765:P767A;ENSP00000367948:P3067A;ENSP00000354923:P3071A;ENSP00000352894:P611A;ENSP00000340057:P611A;ENSP00000367979:P611A;ENSP00000444119:P611A;ENSP00000417123:P611A	.|.	A|P	-|-	2|1	0|0	DMD|DMD	31251649|31251649	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.004000|7.004000	0.76317|0.76317	2.483000|2.483000	0.83821|0.83821	0.600000|0.600000	0.82982|0.82982	GCC|CCC	DMD	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pirsf_Dystrophin/utrophin,pfscan_WW_Rsp5_WWP	ENSG00000198947		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	103	0.00	0	G	NM_004006		31341728	31341728	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	117	17.61	25	SNP	1.000	C
DNAH12	201625	genome.wustl.edu	37	3	57439118	57439118	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:57439118A>G	ENST00000351747.2	-	24	3580	c.3400T>C	c.(3400-3402)Tat>Cat	p.Y1134H		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1134	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						TCCTTATAATACTTCTTTAAT	0.313																																						dbGAP											0													117.0	114.0	115.0					3																	57439118		692	1591	2283	-	-	-	SO:0001583	missense	0			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.3400T>C	3.37:g.57439118A>G	ENSP00000295937:p.Tyr1134His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Y1134H	ENST00000351747.2	37	c.3400		3	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449557	0.63178	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.58940	0.3;0.3	5.74	5.74	0.90152	.	.	.	.	.	T	0.79470	0.4451	M	0.87617	2.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82563	-0.0395	9	0.56958	D	0.05	.	16.0236	0.80522	1.0:0.0:0.0:0.0	.	1134	Q6ZR08	DYH12_HUMAN	H	1134;1157	ENSP00000295937:Y1134H;ENSP00000418137:Y1157H	ENSP00000295937:Y1134H	Y	-	1	0	DNAH12	57414158	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.531000	0.81973	2.191000	0.70037	0.477000	0.44152	TAT	DNAH12	-	NULL	ENSG00000174844		0.313	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		90	0.00	0	A	NM_178504		57439118	57439118	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	58	46.85	52	SNP	1.000	G
DNAH12	201625	genome.wustl.edu	37	3	57496562	57496562	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:57496562T>A	ENST00000351747.2	-	5	604	c.424A>T	c.(424-426)Aat>Tat	p.N142Y	DNAH12_ENST00000311202.6_Missense_Mutation_p.N142Y|RNU6-1181P_ENST00000384191.1_RNA|DNAH12_ENST00000389536.4_Missense_Mutation_p.N142Y	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	142	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						GACACCTCATTTATGAGACTT	0.438																																						dbGAP											0													147.0	131.0	136.0					3																	57496562		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.424A>T	3.37:g.57496562T>A	ENSP00000295937:p.Asn142Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N142Y	ENST00000351747.2	37	c.424		3	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121548	0.37436	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.22134	2.12;1.97;3.62;3.08	4.95	-2.2	0.06994	.	1.053550	0.07488	N	0.905160	T	0.12944	0.0314	L	0.36672	1.1	0.09310	N	1	P;B	0.45715	0.865;0.068	B;B	0.33750	0.169;0.021	T	0.27571	-1.0070	10	0.66056	D	0.02	.	7.2887	0.26354	0.0:0.3813:0.2179:0.4008	.	142;142	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	Y	142	ENSP00000295937:N142Y;ENSP00000418137:N142Y;ENSP00000374187:N142Y;ENSP00000312554:N142Y	ENSP00000312554:N142Y	N	-	1	0	DNAH12	57471602	0.003000	0.15002	0.594000	0.28785	0.970000	0.65996	0.023000	0.13533	-0.338000	0.08413	0.460000	0.39030	AAT	DNAH12	-	NULL	ENSG00000174844		0.438	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		100	0.00	0	T	NM_178504		57496562	57496562	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	90	17.43	19	SNP	0.009	A
DNAH17	8632	genome.wustl.edu	37	17	76486797	76486798	+	Frame_Shift_Ins	INS	-	-	G	rs373616933|rs61741536	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:76486797_76486798insG	ENST00000585328.1	-	44	6910_6911	c.6786_6787insC	c.(6784-6789)gccgacfs	p.D2263fs	DNAH17_ENST00000389840.5_Frame_Shift_Ins_p.D2254fs|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2254	AAA 2. {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(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATCCCAGGTCGGCTGGGTTGA	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6787dupC	17.37:g.76486799_76486799dupG	ENSP00000465516:p.Asp2263fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Ins	INS	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.D2253fs	ENST00000585328.1	37	c.6760_6759		17																																																																																			DNAH17	-	NULL	ENSG00000187775		0.564	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	68	0.00	0	-	NM_173628		76486797	76486798	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	frame_shift_ins	117	14.60	20	INS	0.997:0.000	G
DNAH2	146754	genome.wustl.edu	37	17	7680816	7680816	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:7680816T>C	ENST00000572933.1	+	33	6571	c.5111T>C	c.(5110-5112)aTc>aCc	p.I1704T	DNAH2_ENST00000389173.2_Missense_Mutation_p.I1704T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1704	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)				TTGACCAAGATCATGCGGCTT	0.483																																						dbGAP											0													323.0	314.0	317.0					17																	7680816		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5111T>C	17.37:g.7680816T>C	ENSP00000458355:p.Ile1704Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.I1704T	ENST00000572933.1	37	c.5111	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476044	0.44044	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22945	1.93	5.7	5.7	0.88788	.	0.131721	0.51477	D	0.000099	T	0.21468	0.0517	L	0.60455	1.87	0.80722	D	1	B	0.29590	0.25	B	0.19148	0.024	T	0.05241	-1.0897	10	0.13108	T	0.6	.	10.2298	0.43247	0.1482:0.0:0.0:0.8518	.	1704	Q9P225	DYH2_HUMAN	T	1704	ENSP00000373825:I1704T	ENSP00000353818:I1704T	I	+	2	0	DNAH2	7621541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.480000	0.53172	2.174000	0.68829	0.477000	0.44152	ATC	DNAH2	-	NULL	ENSG00000183914		0.483	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	79	0.00	0	T	NM_020877		7680816	7680816	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	51	46.32	44	SNP	1.000	C
DNAH8	1769	genome.wustl.edu	37	6	38893841	38893841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:38893841delG	ENST00000359357.3	+	72	10576	c.10322delG	c.(10321-10323)tggfs	p.W3441fs	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.W3658fs|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.W3405fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3441	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						ATTGGTGAGTGGGGGCTACAG	0.398																																						dbGAP											0													133.0	133.0	133.0					6																	38893841		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			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.10322delG	6.37:g.38893841delG	ENSP00000352312:p.Trp3441fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3443fs	ENST00000359357.3	37	c.10322		6																																																																																			DNAH8	-	NULL	ENSG00000124721		0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	65	0.00	0	G	NM_001206927		38893841	38893841	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	frame_shift_del	73	39.34	48	DEL	1.000	-
DNAJA4	55466	genome.wustl.edu	37	15	78557162	78557164	+	In_Frame_Del	DEL	GGA	GGA	-	rs148533324	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:78557162_78557164delGGA	ENST00000394852.3	+	1	247_249	c.57_59delGGA	c.(55-60)ccggag>ccg	p.E21del	DNAJA4_ENST00000446172.2_5'Flank|RP11-762H8.3_ENST00000559954.1_RNA|DNAJA4_ENST00000489435.2_In_Frame_Del_p.E50del|DNAJA4_ENST00000394855.3_In_Frame_Del_p.E50del|DNAJA4_ENST00000343789.3_In_Frame_Del_p.E21del|RP11-762H8.3_ENST00000558971.1_RNA	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	21	J.				negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GCGCGTCCCCGGAGGAGATCAAG	0.685																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.57_59delGGA	15.37:g.78557165_78557167delGGA	ENSP00000378321:p.Glu21del	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	In_Frame_Del	DEL	pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.E50in_frame_del	ENST00000394852.3	37	c.144_146	CCDS45316.1	15																																																																																			DNAJA4	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	ENSG00000140403		0.685	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA4	HGNC	protein_coding	OTTHUMT00000289801.1	21	0.00	0	GGA	NM_018602		78557162	78557164	+1	no_errors	ENST00000394855	ensembl	human	known	69_37n	in_frame_del	22	27.27	9	DEL	0.007:0.995:0.996	-
DNAJA4	55466	genome.wustl.edu	37	15	78568072	78568072	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:78568072T>C	ENST00000394852.3	+	5	1067		c.e5+2		DNAJA4_ENST00000446172.2_Splice_Site|DNAJA4_ENST00000394855.3_Splice_Site|DNAJA4_ENST00000343789.3_Splice_Site	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4						negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CCAAAGCAGGTAATGTTTCAA	0.313																																						dbGAP											0													112.0	106.0	108.0					15																	78568072		2196	4293	6489	-	-	-	SO:0001630	splice_region_variant	0			AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.877+2T>C	15.37:g.78568072T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Splice_Site	SNP	-	e6+2	ENST00000394852.3	37	c.964+2	CCDS45316.1	15	.	.	.	.	.	.	.	.	.	.	T	15.69	2.909066	0.52439	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3478	0.66678	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJA4	76355127	1.000000	0.71417	0.949000	0.38748	0.478000	0.33099	7.665000	0.83852	1.973000	0.57446	0.460000	0.39030	.	DNAJA4	-	-	ENSG00000140403		0.313	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA4	HGNC	protein_coding	OTTHUMT00000289801.1	139	0.00	0	T	NM_018602	Intron	78568072	78568072	+1	no_errors	ENST00000394855	ensembl	human	known	69_37n	splice_site	82	56.50	113	SNP	0.999	C
DNAJC5B	85479	genome.wustl.edu	37	8	66988984	66988984	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:66988984T>C	ENST00000276570.5	+	4	496	c.209T>C	c.(208-210)aTa>aCa	p.I70T	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	70	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GCCCACGCAATACTTACCGAC	0.433																																						dbGAP											0													175.0	154.0	161.0					8																	66988984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.209T>C	8.37:g.66988984T>C	ENSP00000276570:p.Ile70Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969Y8	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.I70T	ENST00000276570.5	37	c.209	CCDS6183.1	8	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820630	0.32145	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.31247	1.5;1.5	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.149203	0.50627	D	0.000104	T	0.24314	0.0589	N	0.11000	0.08	0.50813	D	0.999894	B	0.29115	0.233	B	0.41691	0.364	T	0.21042	-1.0257	10	0.48119	T	0.1	.	10.6717	0.45762	0.0:0.0802:0.0:0.9198	.	70	Q9UF47	DNJ5B_HUMAN	T	70	ENSP00000276570:I70T;ENSP00000430196:I70T	ENSP00000276570:I70T	I	+	2	0	DNAJC5B	67151538	1.000000	0.71417	0.995000	0.50966	0.108000	0.19459	5.133000	0.64764	2.180000	0.69256	0.533000	0.62120	ATA	DNAJC5B	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	ENSG00000147570		0.433	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5B	HGNC	protein_coding	OTTHUMT00000378915.1	51	0.00	0	T	NM_033105		66988984	66988984	+1	no_errors	ENST00000276570	ensembl	human	known	69_37n	missense	90	16.67	18	SNP	1.000	C
DNHD1	144132	genome.wustl.edu	37	11	6578697	6578697	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:6578697T>C	ENST00000527990.2	+	23	8172	c.8172T>C	c.(8170-8172)aaT>aaC	p.N2724N	DNHD1_ENST00000254579.6_Silent_p.N2724N			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2724	Glu-rich.				microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAACAGCAATAGTGAAACAG	0.532																																						dbGAP											0													39.0	42.0	41.0					11																	6578697		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8172T>C	11.37:g.6578697T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.N2724	ENST00000527990.2	37	c.8172	CCDS44532.1	11																																																																																			DNHD1	-	NULL	ENSG00000179532		0.532	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	26	0.00	0	T	NM_144666		6578697	6578697	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	silent	41	19.61	10	SNP	0.394	C
DNTTIP2	30836	genome.wustl.edu	37	1	94342893	94342893	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:94342893T>C	ENST00000436063.2	-	2	655	c.598A>G	c.(598-600)Act>Gct	p.T200A	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTTCTTCTAGTTGCAATTCCA	0.398																																						dbGAP											0													182.0	176.0	178.0					1																	94342893		1872	4109	5981	-	-	-	SO:0001583	missense	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.598A>G	1.37:g.94342893T>C	ENSP00000411010:p.Thr200Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.T200A	ENST00000436063.2	37	c.598	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.723160	0.00700	.	.	ENSG00000067334	ENST00000436063	T	0.13420	2.59	5.28	0.277	0.15668	.	0.700726	0.13524	N	0.381440	T	0.02610	0.0079	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.46190	-0.9209	10	0.22109	T	0.4	.	7.2065	0.25909	0.0:0.2543:0.3963:0.3494	.	200	Q5QJE6	TDIF2_HUMAN	A	200	ENSP00000411010:T200A	ENSP00000352137:T200A	T	-	1	0	DNTTIP2	94115481	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.039000	0.12124	-0.082000	0.12640	-0.256000	0.11100	ACT	DNTTIP2	-	NULL	ENSG00000067334		0.398	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	97	0.00	0	T	NM_014597		94342893	94342893	-1	no_errors	ENST00000436063	ensembl	human	known	69_37n	missense	99	33.11	49	SNP	0.000	C
DOCK8	81704	genome.wustl.edu	37	9	441391	441391	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:441391A>G	ENST00000453981.1	+	41	5441	c.5329A>G	c.(5329-5331)Aga>Gga	p.R1777G	DOCK8_ENST00000469391.1_Missense_Mutation_p.R1677G|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1709G|DOCK8_ENST00000382329.1_Missense_Mutation_p.R1244G			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1777	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAAGCTGCAGAGAGCCTTCGA	0.537																																						dbGAP											0													86.0	79.0	81.0					9																	441391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5329A>G	9.37:g.441391A>G	ENSP00000408464:p.Arg1777Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.R1777G	ENST00000453981.1	37	c.5329	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680374	0.29872	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.16457	2.55;2.55;2.55;2.34	5.36	5.36	0.76844	.	0.144421	0.64402	D	0.000009	T	0.17534	0.0421	L	0.43923	1.385	0.36557	D	0.872195	B;B;B	0.13594	0.002;0.008;0.005	B;B;B	0.17098	0.01;0.017;0.017	T	0.07462	-1.0771	10	0.32370	T	0.25	.	15.522	0.75874	1.0:0.0:0.0:0.0	.	1677;1244;1777	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	G	1777;1745;1709;1677;1244	ENSP00000408464:R1777G;ENSP00000394888:R1709G;ENSP00000419438:R1677G;ENSP00000371766:R1244G	ENSP00000287364:R1745G	R	+	1	2	DOCK8	431391	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	3.883000	0.56168	2.231000	0.72958	0.533000	0.62120	AGA	DOCK8	-	NULL	ENSG00000107099		0.537	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	74	0.00	0	A	XM_036307		441391	441391	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	missense	123	15.65	23	SNP	1.000	G
DOCK8	81704	genome.wustl.edu	37	9	464280	464280	+	3'UTR	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:464280T>C	ENST00000453981.1	+	0	6473				RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA|DOCK8_ENST00000469391.1_3'UTR|RP11-165F24.3_ENST00000589387.1_RNA|DOCK8_ENST00000432829.2_3'UTR|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|DOCK8_ENST00000382329.1_3'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GACTTGCTGGTACTTAAAAAA	0.493																																						dbGAP											0													29.0	24.0	25.0					9																	464280		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.*61T>C	9.37:g.464280T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	-	NULL	ENST00000453981.1	37	c.NULL	CCDS6440.2	9																																																																																			DOCK8	-	-	ENSG00000107099		0.493	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	24	0.00	0	T	XM_036307		464280	464280	+1	no_errors	ENST00000462618	ensembl	human	known	69_37n	splice_site	61	14.08	10	SNP	0.000	C
DOLPP1	57171	genome.wustl.edu	37	9	131848990	131848990	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:131848990C>A	ENST00000372546.4	+	7	625	c.593C>A	c.(592-594)cCt>cAt	p.P198H	DOLPP1_ENST00000540102.1_Missense_Mutation_p.P57H|DOLPP1_ENST00000406974.3_Missense_Mutation_p.P155H	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	198					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						CTCTCCAGGCCTGTCTCCGAG	0.592																																						dbGAP											0													136.0	110.0	119.0					9																	131848990		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.593C>A	9.37:g.131848990C>A	ENSP00000361625:p.Pro198His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.P198H	ENST00000372546.4	37	c.593	CCDS6918.1	9	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638906	0.67130	.	.	ENSG00000167130	ENST00000372546;ENST00000406974;ENST00000540102	T	0.74842	-0.88	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77731	0.4174	M	0.78049	2.395	0.80722	D	1	B;B	0.29936	0.262;0.085	B;B	0.32149	0.141;0.04	T	0.77115	-0.2707	10	0.51188	T	0.08	-12.1867	18.4845	0.90824	0.0:1.0:0.0:0.0	.	155;198	B0QZG4;Q86YN1	.;DOPP1_HUMAN	H	198;155;57	ENSP00000384043:P155H	ENSP00000361625:P198H	P	+	2	0	DOLPP1	130888811	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.412000	0.80091	2.607000	0.88179	0.555000	0.69702	CCT	DOLPP1	-	NULL	ENSG00000167130		0.592	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLPP1	HGNC	protein_coding	OTTHUMT00000054548.4	87	0.00	0	C	NM_020438		131848990	131848990	+1	no_errors	ENST00000372546	ensembl	human	known	69_37n	missense	79	16.84	16	SNP	1.000	A
DPEP3	64180	genome.wustl.edu	37	16	68012203	68012203	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:68012203T>C	ENST00000268793.4	-	4	1101	c.728A>G	c.(727-729)tAc>tGc	p.Y243C	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	218					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AAGTGTCAGGTAGCGCACCCC	0.572																																						dbGAP											0													114.0	106.0	109.0					16																	68012203		2198	4300	6498	-	-	-	SO:0001583	missense	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.728A>G	16.37:g.68012203T>C	ENSP00000268793:p.Tyr243Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.Y243C	ENST00000268793.4	37	c.728	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595041	0.46318	.	.	ENSG00000141096	ENST00000268793	T	0.25579	1.79	4.49	3.37	0.38596	.	0.200387	0.45126	D	0.000383	T	0.57710	0.2072	H	0.94503	3.545	0.45690	D	0.998609	D	0.89917	1.0	D	0.77557	0.99	T	0.62483	-0.6845	10	0.87932	D	0	-3.188	8.624	0.33877	0.1714:0.0:0.0:0.8286	.	218	Q9H4B8	DPEP3_HUMAN	C	243	ENSP00000268793:Y243C	ENSP00000268793:Y243C	Y	-	2	0	DPEP3	66569704	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	3.075000	0.50073	0.568000	0.29311	0.459000	0.35465	TAC	DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.572	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	52	0.00	0	T	NM_022357		68012203	68012203	-1	no_errors	ENST00000268793	ensembl	human	known	69_37n	missense	65	15.19	12	SNP	1.000	C
DPP6	1804	genome.wustl.edu	37	7	154585811	154585811	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:154585811A>G	ENST00000377770.3	+	11	1300	c.1159A>G	c.(1159-1161)Aag>Gag	p.K387E	DPP6_ENST00000427557.1_Missense_Mutation_p.K280E|DPP6_ENST00000404039.1_Missense_Mutation_p.K323E|DPP6_ENST00000332007.3_Missense_Mutation_p.K325E			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	387					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CACCATGGTGAAGTGGGCCAC	0.647																																					NSCLC(125;1384 1783 2490 7422 34254)	dbGAP											0													45.0	52.0	49.0					7																	154585811		2157	4251	6408	-	-	-	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1159A>G	7.37:g.154585811A>G	ENSP00000367001:p.Lys387Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.K387E	ENST00000377770.3	37	c.1159		7	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648596	0.67358	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.094712	0.64402	D	0.000001	T	0.50684	0.1630	M	0.81239	2.535	0.53688	D	0.999973	P;B;B;B	0.50528	0.936;0.002;0.018;0.007	P;B;B;B	0.55824	0.785;0.002;0.022;0.008	T	0.58036	-0.7707	10	0.62326	D	0.03	-14.196	13.2716	0.60164	1.0:0.0:0.0:0.0	.	280;325;387;323	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	323;387;325;280	ENSP00000385578:K323E;ENSP00000367001:K387E;ENSP00000328226:K325E;ENSP00000397303:K280E	ENSP00000328226:K325E	K	+	1	0	DPP6	154216744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.711000	0.74675	1.684000	0.51022	0.528000	0.53228	AAG	DPP6	-	pfam_Peptidase_S9B	ENSG00000130226		0.647	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	48	0.00	0	A	NM_130797		154585811	154585811	+1	no_errors	ENST00000377770	ensembl	human	known	69_37n	missense	16	54.29	19	SNP	1.000	G
DPP8	54878	genome.wustl.edu	37	15	65777497	65777497	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:65777497A>G	ENST00000341861.5	-	8	2585	c.1005T>C	c.(1003-1005)ggT>ggC	p.G335G	DPP8_ENST00000559233.1_Splice_Site_p.G335G|DPP8_ENST00000321147.6_Splice_Site_p.G335G|DPP8_ENST00000339244.5_Splice_Site_p.G335G|DPP8_ENST00000358939.4_Splice_Site_p.G319G|DPP8_ENST00000300141.6_Splice_Site_p.G319G|DPP8_ENST00000321118.7_Splice_Site_p.G335G	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	335					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATTTGCTGTACCTTTAGAAA	0.313																																						dbGAP											0													102.0	93.0	96.0					15																	65777497		2200	4299	6499	-	-	-	SO:0001630	splice_region_variant	0			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1004-1T>C	15.37:g.65777497A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.Y77H	ENST00000341861.5	37	c.229	CCDS10207.1	15																																																																																			DPP8	-	pfam_Peptidase_S9B	ENSG00000074603		0.313	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	75	0.00	0	A	NM_017743	Silent	65777497	65777497	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000558559	ensembl	human	novel	69_37n	missense	53	52.68	59	SNP	0.999	G
DRD1	1812	genome.wustl.edu	37	5	174869489	174869489	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:174869489A>G	ENST00000393752.2	-	2	1606	c.614T>C	c.(613-615)aTc>aCc	p.I205T		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	205					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCCACAGGGATGTAAAAGCT	0.512																																						dbGAP											0													169.0	160.0	163.0					5																	174869489		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.614T>C	5.37:g.174869489A>G	ENSP00000377353:p.Ile205Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA44|Q4QRJ0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_1A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt	p.I205T	ENST00000393752.2	37	c.614	CCDS4393.1	5	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632953	0.67015	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.42131	0.98	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76785	-0.2831	10	0.87932	D	0	.	15.154	0.72726	1.0:0.0:0.0:0.0	.	205	P21728	DRD1_HUMAN	T	205	ENSP00000377353:I205T	ENSP00000327652:I205T	I	-	2	0	DRD1	174802095	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.157000	0.94714	2.234000	0.73211	0.528000	0.53228	ATC	DRD1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000184845		0.512	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2	91	0.00	0	A	NM_000794		174869489	174869489	-1	no_errors	ENST00000329144	ensembl	human	known	69_37n	missense	123	14.58	21	SNP	1.000	G
DSTYK	25778	genome.wustl.edu	37	1	205126412	205126412	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:205126412T>C	ENST00000367162.3	-	10	2371	c.2341A>G	c.(2341-2343)Aaa>Gaa	p.K781E	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.K781E	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGCACATTTTTCAGTTTGATA	0.463																																						dbGAP											0													137.0	120.0	126.0					1																	205126412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2341A>G	1.37:g.205126412T>C	ENSP00000356130:p.Lys781Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	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.K781E	ENST00000367162.3	37	c.2341	CCDS1451.1	1	.	.	.	.	.	.	.	.	.	.	T	31	5.069690	0.93950	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.17528	2.27;2.27	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	N	0.01424	-0.875	0.80722	D	1	P;P	0.43607	0.812;0.537	P;B	0.49332	0.607;0.386	T	0.46133	-0.9213	10	0.45353	T	0.12	-17.6021	15.5475	0.76118	0.0:0.0:0.0:1.0	.	781;781	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	E	781	ENSP00000356129:K781E;ENSP00000356130:K781E	ENSP00000356129:K781E	K	-	1	0	DSTYK	203393035	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.964000	0.87933	2.227000	0.72691	0.460000	0.39030	AAA	DSTYK	-	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	ENSG00000133059		0.463	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	76	0.00	0	T	NM_015375		205126412	205126412	-1	no_errors	ENST00000367162	ensembl	human	known	69_37n	missense	119	16.20	23	SNP	1.000	C
DUSP7	1849	genome.wustl.edu	37	3	52088095	52088095	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:52088095G>C	ENST00000495880.1	-	2	996	c.813C>G	c.(811-813)atC>atG	p.I271M	DUSP7_ENST00000296483.6_Missense_Mutation_p.I220M			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	271					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGATATACTTGATGCCATACT	0.582																																						dbGAP											0													338.0	298.0	312.0					3																	52088095		2203	4300	6503	-	-	-	SO:0001583	missense	0			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.813C>G	3.37:g.52088095G>C	ENSP00000417183:p.Ile271Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.I220M	ENST00000495880.1	37	c.660	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461801	0.84425	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.90004	-2.6;-2.6;-2.6	5.42	5.42	0.78866	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.96109	0.8732	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96976	0.9712	10	0.87932	D	0	.	13.5114	0.61515	0.0772:0.0:0.9228:0.0	.	220;271	Q16829-2;Q16829	.;DUS7_HUMAN	M	271;220;204	ENSP00000417183:I271M;ENSP00000296483:I220M;ENSP00000418566:I204M	ENSP00000296483:I220M	I	-	3	3	DUSP7	52063135	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.975000	0.56859	2.527000	0.85204	0.549000	0.68633	ATC	DUSP7	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000164086		0.582	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1	204	0.00	0	G	NM_001947		52088095	52088095	-1	no_errors	ENST00000296483	ensembl	human	known	69_37n	missense	141	43.82	110	SNP	1.000	C
DYNC1H1	1778	genome.wustl.edu	37	14	102509062	102509062	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:102509062A>G	ENST00000360184.4	+	69	12654	c.12490A>G	c.(12490-12492)Att>Gtt	p.I4164V	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4164	AAA 6. {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						GTTCAGCAGCATTCCCGTCTC	0.552																																						dbGAP											0													110.0	83.0	92.0					14																	102509062		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.12490A>G	14.37:g.102509062A>G	ENSP00000348965:p.Ile4164Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,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.I4164V	ENST00000360184.4	37	c.12490	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	9.030	0.987150	0.18889	.	.	ENSG00000197102	ENST00000360184	T	0.08634	3.07	6.07	4.92	0.64577	Dynein heavy chain (1);	0.049193	0.85682	N	0.000000	T	0.04272	0.0118	N	0.04148	-0.265	0.58432	D	0.999999	B	0.10296	0.003	B	0.14023	0.01	T	0.44360	-0.9333	10	0.18276	T	0.48	.	12.0359	0.53425	0.933:0.0:0.067:0.0	.	4164	Q14204	DYHC1_HUMAN	V	4164	ENSP00000348965:I4164V	ENSP00000348965:I4164V	I	+	1	0	DYNC1H1	101578815	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	4.538000	0.60650	1.111000	0.41721	0.533000	0.62120	ATT	DYNC1H1	-	pfam_Dynein_heavy	ENSG00000197102		0.552	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	47	0.00	0	A	NM_001376		102509062	102509062	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	71	21.98	20	SNP	1.000	G
DYNC1H1	1778	genome.wustl.edu	37	14	102516130	102516130	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:102516130A>G	ENST00000360184.4	+	76	13759	c.13595A>G	c.(13594-13596)aAc>aGc	p.N4532S	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4532					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						GCCCAGGCCAACAGCTGGTCC	0.627																																						dbGAP											0													47.0	43.0	45.0					14																	102516130		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.13595A>G	14.37:g.102516130A>G	ENSP00000348965:p.Asn4532Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,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.N4532S	ENST00000360184.4	37	c.13595	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348952	0.61183	.	.	ENSG00000197102	ENST00000360184	T	0.10005	2.92	5.21	4.03	0.46877	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	M	0.81341	2.54	0.80722	D	1	D	0.55605	0.972	P	0.57009	0.811	T	0.02075	-1.1218	10	0.51188	T	0.08	.	12.0648	0.53581	0.8557:0.1443:0.0:0.0	.	4532	Q14204	DYHC1_HUMAN	S	4532	ENSP00000348965:N4532S	ENSP00000348965:N4532S	N	+	2	0	DYNC1H1	101585883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	0.780000	0.33566	0.533000	0.62120	AAC	DYNC1H1	-	pfam_Dynein_heavy	ENSG00000197102		0.627	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	19	0.00	0	A	NM_001376		102516130	102516130	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	G
DYNC1I1	1780	genome.wustl.edu	37	7	95657618	95657618	+	Silent	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:95657618A>C	ENST00000324972.6	+	11	1345	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S	DYNC1I1_ENST00000447467.2_Silent_p.S367S|DYNC1I1_ENST00000437599.1_Silent_p.S364S|DYNC1I1_ENST00000359388.4_Silent_p.S347S|DYNC1I1_ENST00000537881.1_Silent_p.S347S|DYNC1I1_ENST00000457059.1_Silent_p.S367S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	384					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CACCCTTATCAGCTGCTGCAC	0.498																																						dbGAP											0													124.0	105.0	111.0					7																	95657618		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1152A>C	7.37:g.95657618A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S384	ENST00000324972.6	37	c.1152	CCDS5644.1	7																																																																																			DYNC1I1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000158560		0.498	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	37	0.00	0	A	NM_004411		95657618	95657618	+1	no_errors	ENST00000324972	ensembl	human	known	69_37n	silent	44	26.67	16	SNP	0.948	C
DYNC2H1	79659	genome.wustl.edu	37	11	103036734	103036734	+	Missense_Mutation	SNP	A	A	T	rs201016942	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:103036734A>T	ENST00000375735.2	+	31	4863	c.4719A>T	c.(4717-4719)caA>caT	p.Q1573H	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q1573H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1573	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTTAGAGCAATATACTAACA	0.358																																						dbGAP											0													36.0	34.0	35.0					11																	103036734		1691	3727	5418	-	-	-	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4719A>T	11.37:g.103036734A>T	ENSP00000364887:p.Gln1573His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q1573H	ENST00000375735.2	37	c.4719	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	3.074	-0.190428	0.06299	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.31510	1.49;1.49	5.31	-1.51	0.08664	.	0.950001	0.08499	N	0.936783	T	0.09774	0.0240	N	0.01771	-0.73	0.25074	N	0.990978	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24048	-1.0171	10	0.38643	T	0.18	.	2.2349	0.04005	0.1296:0.2684:0.1205:0.4816	.	1573;1573	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	H	1573	ENSP00000364887:Q1573H;ENSP00000381167:Q1573H	ENSP00000364887:Q1573H	Q	+	3	2	DYNC2H1	102541944	0.949000	0.32298	0.781000	0.31783	0.069000	0.16628	0.071000	0.14594	-0.205000	0.10219	-1.838000	0.00587	CAA	DYNC2H1	-	NULL	ENSG00000187240		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	30	0.00	0	A	XM_370652		103036734	103036734	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	missense	26	44.68	21	SNP	0.972	T
DYSF	8291	genome.wustl.edu	37	2	71883420	71883420	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:71883420G>A	ENST00000258104.3	+	42	4915	c.4638G>A	c.(4636-4638)aaG>aaA	p.K1546K	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Splice_Site_p.K1578K|DYSF_ENST00000394120.2_Splice_Site_p.K1547K|DYSF_ENST00000409762.1_Splice_Site_p.K1563K|DYSF_ENST00000410020.3_Splice_Site_p.K1585K|DYSF_ENST00000409582.3_Splice_Site_p.K1584K|DYSF_ENST00000413539.2_Splice_Site_p.K1577K|DYSF_ENST00000429174.2_Splice_Site_p.K1567K|DYSF_ENST00000409366.1_Splice_Site_p.K1568K|DYSF_ENST00000409744.1_Splice_Site_p.K1554K|DYSF_ENST00000410041.1_Splice_Site_p.K1564K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1546					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGAATTTAAGGTAAATCCTC	0.522																																						dbGAP											0													239.0	233.0	235.0					2																	71883420		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4638+1G>A	2.37:g.71883420G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.K1577	ENST00000258104.3	37	c.4731	CCDS1918.1	2																																																																																			DYSF	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000135636		0.522	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	50	0.00	0	G	NM_003494	Silent	71883420	71883420	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	silent	70	23.91	22	SNP	1.000	A
DZIP3	9666	genome.wustl.edu	37	3	108367765	108367765	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:108367765G>C	ENST00000361582.3	+	17	2193	c.1963G>C	c.(1963-1965)Gtt>Ctt	p.V655L	DZIP3_ENST00000463306.1_Splice_Site_p.V655L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	655					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						taCCTACTAGGTTAAGAGTAA	0.264																																						dbGAP											0													20.0	20.0	20.0					3																	108367765		2041	4155	6196	-	-	-	SO:0001630	splice_region_variant	0			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1963-1G>C	3.37:g.108367765G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V655L	ENST00000361582.3	37	c.1963	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604519	0.46423	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.33865	1.39;1.39	3.93	3.93	0.45458	.	0.476190	0.17804	N	0.161459	T	0.30510	0.0767	L	0.47716	1.5	0.32011	N	0.602106	B;B	0.26363	0.147;0.147	B;B	0.25614	0.062;0.062	T	0.25745	-1.0123	9	.	.	.	-5.1937	11.7569	0.51880	0.0:0.0:1.0:0.0	.	273;655	D3DN61;Q86Y13	.;DZIP3_HUMAN	L	655	ENSP00000355028:V655L;ENSP00000419981:V655L	.	V	+	1	0	DZIP3	109850455	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.692000	0.54727	2.474000	0.83562	0.561000	0.74099	GTT	DZIP3	-	NULL	ENSG00000198919		0.264	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	40	0.00	0	G	NM_014648	Missense_Mutation	108367765	108367765	+1	no_errors	ENST00000361582	ensembl	human	known	69_37n	missense	50	25.37	17	SNP	1.000	C
E2F7	144455	genome.wustl.edu	37	12	77427807	77427807	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:77427807T>C	ENST00000322886.7	-	8	1374	c.1139A>G	c.(1138-1140)gAt>gGt	p.D380G	E2F7_ENST00000416496.2_Missense_Mutation_p.D380G	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	380					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGCAGAAACATCCACCAGTTC	0.383																																						dbGAP											0													73.0	67.0	69.0					12																	77427807		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1139A>G	12.37:g.77427807T>C	ENSP00000323246:p.Asp380Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.D380G	ENST00000322886.7	37	c.1139	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721796	0.48728	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.18174	2.49;2.23;2.24	5.97	4.82	0.62117	.	0.263302	0.33457	N	0.004900	T	0.19886	0.0478	M	0.63428	1.95	0.37456	D	0.91501	P	0.39060	0.657	B	0.37650	0.255	T	0.06899	-1.0801	10	0.33141	T	0.24	-18.0693	12.7171	0.57121	0.0:0.0:0.1374:0.8625	.	380	Q96AV8	E2F7_HUMAN	G	380	ENSP00000323246:D380G;ENSP00000393639:D380G;ENSP00000448245:D380G	ENSP00000323246:D380G	D	-	2	0	E2F7	75951938	0.935000	0.31712	0.998000	0.56505	0.960000	0.62799	3.071000	0.50041	1.065000	0.40693	0.533000	0.62120	GAT	E2F7	-	NULL	ENSG00000165891		0.383	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	41	0.00	0	T	XM_084871		77427807	77427807	-1	no_errors	ENST00000322886	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.997	C
E2F8	79733	genome.wustl.edu	37	11	19246367	19246367	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:19246367T>G	ENST00000527884.1	-	13	2674	c.2442A>C	c.(2440-2442)aaA>aaC	p.K814N	E2F8_ENST00000250024.4_Missense_Mutation_p.K814N|E2F8_ENST00000529188.1_5'Flank|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	814					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATTGTGACCCTTTGGGTGTCA	0.478																																						dbGAP											0													77.0	74.0	75.0					11																	19246367		2199	4293	6492	-	-	-	SO:0001583	missense	0				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2442A>C	11.37:g.19246367T>G	ENSP00000434199:p.Lys814Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.K814N	ENST00000527884.1	37	c.2442	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061241	0.55432	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.24350	1.86;1.86	6.07	3.8	0.43715	.	0.198492	0.50627	D	0.000115	T	0.41213	0.1149	M	0.69823	2.125	0.47153	D	0.999333	D	0.76494	0.999	D	0.63488	0.915	T	0.33033	-0.9884	10	0.72032	D	0.01	-22.2146	4.56	0.12156	0.1376:0.201:0.0:0.6614	.	814	A0AVK6	E2F8_HUMAN	N	814	ENSP00000434199:K814N;ENSP00000250024:K814N	ENSP00000250024:K814N	K	-	3	2	E2F8	19202943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.486000	0.22340	1.124000	0.41980	-0.250000	0.11733	AAA	E2F8	-	NULL	ENSG00000129173		0.478	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	55	0.00	0	T	NM_024680		19246367	19246367	-1	no_errors	ENST00000250024	ensembl	human	known	69_37n	missense	89	27.05	33	SNP	1.000	G
EAF1	85403	genome.wustl.edu	37	3	15471489	15471489	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:15471489T>C	ENST00000396842.2	+	2	598	c.173T>C	c.(172-174)gTc>gCc	p.V58A	EAF1_ENST00000432764.2_Missense_Mutation_p.S3P|METTL6_ENST00000443029.1_5'Flank|METTL6_ENST00000450816.2_5'Flank|METTL6_ENST00000383790.3_5'Flank|METTL6_ENST00000383789.5_5'Flank	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GGAGATGAAGTCACAATTACA	0.328																																						dbGAP											0													143.0	142.0	143.0					3																	15471489		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.173T>C	3.37:g.15471489T>C	ENSP00000380054:p.Val58Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3F5|Q8IW10	Missense_Mutation	SNP	pfam_Tscrpt_elong_fac_Eaf_N	p.V58A	ENST00000396842.2	37	c.173	CCDS2626.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.851677|4.851677	0.91355|0.91355	.|.	.|.	ENSG00000144597|ENSG00000144597	ENST00000432764|ENST00000396842	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Transcription elognation factor  Eaf, N-terminal (1);	.|0.052398	.|0.85682	.|N	.|0.000000	T|T	0.79540|0.79540	0.4463|0.4463	M|M	0.76938|0.76938	2.355|2.355	0.80722|0.80722	D|D	1|1	D|D	0.57899|0.63046	0.981|0.992	D|D	0.68621|0.74348	0.959|0.983	T|T	0.82259|0.82259	-0.0546|-0.0546	8|9	0.87932|0.87932	D|D	0|0	-23.1492|-23.1492	15.7477|15.7477	0.77958|0.77958	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3|58	B4E3F5|Q96JC9	.|EAF1_HUMAN	P|A	3|58	.|.	ENSP00000410504:S3P|ENSP00000380054:V58A	S|V	+|+	1|2	0|0	EAF1|EAF1	15446493|15446493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.651000|7.651000	0.83577|0.83577	2.197000|2.197000	0.70478|0.70478	0.454000|0.454000	0.30748|0.30748	TCA|GTC	EAF1	-	pfam_Tscrpt_elong_fac_Eaf_N	ENSG00000144597		0.328	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF1	HGNC	protein_coding	OTTHUMT00000252100.4	127	0.00	0	T	NM_033083		15471489	15471489	+1	no_errors	ENST00000396842	ensembl	human	known	69_37n	missense	168	26.32	60	SNP	1.000	C
EAPP	55837	genome.wustl.edu	37	14	35005482	35005482	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:35005482C>T	ENST00000250454.3	-	2	156		c.e2-1			NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein						negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATCCTCAGAGCTAGCATACAT	0.318																																						dbGAP											0													55.0	47.0	49.0					14																	35005482		1814	4075	5889	-	-	-	SO:0001630	splice_region_variant	0			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.75-1G>A	14.37:g.35005482C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVF4|Q9NWV5|Q9NZ86	Splice_Site	SNP	-	e2-1	ENST00000250454.3	37	c.75-1	CCDS41941.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|C	11.07|11.07	1.531029|1.531029	0.27387|0.27387	.|.	.|.	ENSG00000129518|ENSG00000129518	ENST00000250454|ENST00000554792	.|T	.|0.56941	.|0.43	5.75|5.75	4.86|4.86	0.63082|0.63082	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63224	.|0.2493	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62840	.|-0.6769	.|5	.|.	.|.	.|.	.|.	15.1511|15.1511	0.72700|0.72700	0.0:0.9322:0.0:0.0678|0.0:0.9322:0.0:0.0678	.|.	.|.	.|.	.|.	.|N	-1|4	.|ENSP00000450908:S4N	.|.	.|S	-|-	.|2	.|0	EAPP|EAPP	34075233|34075233	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.243000|0.243000	0.25628|0.25628	6.983000|6.983000	0.76180|0.76180	1.583000|1.583000	0.49898|0.49898	-0.140000|-0.140000	0.14226|0.14226	.|AGC	EAPP	-	-	ENSG00000129518		0.318	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAPP	HGNC	protein_coding	OTTHUMT00000409847.1	55	0.00	0	C	NM_018453	Intron	35005482	35005482	-1	no_errors	ENST00000250454	ensembl	human	known	69_37n	splice_site	110	21.99	31	SNP	1.000	T
EEF1A1	1915	genome.wustl.edu	37	6	74228713	74228713	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:74228713A>G	ENST00000316292.9	-	3	1554	c.563T>C	c.(562-564)gTa>gCa	p.V188A	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_Missense_Mutation_p.V188A|EEF1A1_ENST00000309268.6_Missense_Mutation_p.V188A	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	188	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CACAAATGCTACTGTGTCGGG	0.438											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													50.0	50.0	50.0					6																	74228713		2202	4295	6497	-	-	-	SO:0001583	missense	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.563T>C	6.37:g.74228713A>G	ENSP00000339063:p.Val188Ala	Somatic	1151	WXS	Illumina GAIIx	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	p.V188A	ENST00000316292.9	37	c.563	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131968	0.77662	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.71817	-0.6;-0.6;-0.6	4.57	4.57	0.56435	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000001	T	0.66086	0.2754	N	0.17631	0.505	0.80722	D	1	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	D;D;D;D	0.69654	0.965;0.965;0.965;0.965	T	0.74399	-0.3678	10	0.87932	D	0	.	14.3061	0.66386	1.0:0.0:0.0:0.0	.	188;188;188;188	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	A	188;188;188;188;167	ENSP00000339063:V188A;ENSP00000339053:V188A;ENSP00000330054:V188A	ENSP00000339053:V188A	V	-	2	0	EEF1A1	74285434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.878000	0.92393	1.832000	0.53329	0.449000	0.29647	GTA	EEF1A1	-	pfam_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000156508		0.438	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	64	0.00	0	A	NM_001402		74228713	74228713	-1	no_errors	ENST00000309268	ensembl	human	known	69_37n	missense	93	41.51	66	SNP	1.000	G
EGFL6	25975	genome.wustl.edu	37	X	13626502	13626502	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:13626502A>G	ENST00000361306.1	+	7	972	c.715A>G	c.(715-717)Acc>Gcc	p.T239A	EGFL6_ENST00000380602.3_Missense_Mutation_p.T239A	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	239	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TTGCTTCAATACCCAAGGGTC	0.428																																						dbGAP											0													229.0	182.0	198.0					X																	13626502		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.715A>G	X.37:g.13626502A>G	ENSP00000355126:p.Thr239Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.T239A	ENST00000361306.1	37	c.715	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802059	0.50315	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.92858	-3.12;-3.12	4.97	4.97	0.65823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95956	0.8683	M	0.83852	2.665	0.58432	D	0.999997	D;P	0.89917	1.0;0.907	D;P	0.85130	0.997;0.566	D	0.96261	0.9191	10	0.62326	D	0.03	.	13.8885	0.63724	1.0:0.0:0.0:0.0	.	239;239	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	A	239	ENSP00000355126:T239A;ENSP00000369976:T239A	ENSP00000355126:T239A	T	+	1	0	EGFL6	13536423	1.000000	0.71417	0.998000	0.56505	0.535000	0.34838	6.943000	0.75934	1.655000	0.50712	0.472000	0.43445	ACC	EGFL6	-	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000198759		0.428	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	114	0.00	0	A	NM_015507		13626502	13626502	+1	no_errors	ENST00000380602	ensembl	human	known	69_37n	missense	141	25.40	48	SNP	1.000	G
EGR1	1958	genome.wustl.edu	37	5	137803283	137803283	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:137803283A>G	ENST00000239938.4	+	2	1417	c.1145A>G	c.(1144-1146)cAc>cGc	p.H382R		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	382					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCAGCGACCACCTCACCACC	0.612																																						dbGAP											0													85.0	83.0	84.0					5																	137803283		2203	4300	6503	-	-	-	SO:0001583	missense	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1145A>G	5.37:g.137803283A>G	ENSP00000239938:p.His382Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H382R	ENST00000239938.4	37	c.1145	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727640	0.48833	.	.	ENSG00000120738	ENST00000239938	T	0.51574	0.7	4.2	4.2	0.49525	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	0.57533	0.2060	L	0.37697	1.125	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.61540	-0.7042	10	0.87932	D	0	-24.2789	12.6169	0.56582	1.0:0.0:0.0:0.0	.	382	P18146	EGR1_HUMAN	R	382	ENSP00000239938:H382R	ENSP00000239938:H382R	H	+	2	0	EGR1	137831182	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.139000	0.94554	1.768000	0.52137	0.460000	0.39030	CAC	EGR1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120738		0.612	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	73	0.00	0	A	NM_001964		137803283	137803283	+1	no_errors	ENST00000239938	ensembl	human	known	69_37n	missense	47	29.41	20	SNP	1.000	G
AGO1	26523	genome.wustl.edu	37	1	36367604	36367604	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:36367604T>C	ENST00000373204.4	+	10	1409	c.1196T>C	c.(1195-1197)gTg>gCg	p.V399A	AGO1_ENST00000373206.1_Missense_Mutation_p.V324A	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	399					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGGATCAAAGTGAAGGATGAC	0.557																																						dbGAP											0													90.0	87.0	88.0					1																	36367604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1196T>C	1.37:g.36367604T>C	ENSP00000362300:p.Val399Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA57|Q6P4S0	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.V399A	ENST00000373204.4	37	c.1196	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584214	0.86748	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.06371	3.31;3.31	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	M	0.85630	2.765	0.80722	D	1	D	0.54964	0.969	P	0.55011	0.766	T	0.01298	-1.1392	10	0.87932	D	0	-15.9054	16.6093	0.84858	0.0:0.0:0.0:1.0	.	399	Q9UL18	AGO1_HUMAN	A	324;399	ENSP00000362302:V324A;ENSP00000362300:V399A	ENSP00000362300:V399A	V	+	2	0	EIF2C1	36140191	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	GTG	EIF2C1	-	NULL	ENSG00000092847		0.557	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	59	0.00	0	T			36367604	36367604	+1	no_errors	ENST00000373204	ensembl	human	known	69_37n	missense	113	23.13	34	SNP	1.000	C
AGO2	27161	genome.wustl.edu	37	8	141567283	141567283	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:141567283A>G	ENST00000220592.5	-	8	1043	c.931T>C	c.(931-933)Tat>Cat	p.Y311H	AGO2_ENST00000519980.1_Missense_Mutation_p.Y311H	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	311	Interaction with guide RNA.|PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TCCTTGAAATACTGGGCCACC	0.607																																						dbGAP											0													146.0	141.0	143.0					8																	141567283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.931T>C	8.37:g.141567283A>G	ENSP00000220592:p.Tyr311His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Y311H	ENST00000220592.5	37	c.931	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453494	0.84209	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.59638	0.25;0.25	5.01	3.84	0.44239	Argonaute/Dicer protein, PAZ (4);	0.058566	0.64402	N	0.000001	T	0.77987	0.4213	M	0.91818	3.245	0.80722	D	1	P;P	0.43633	0.813;0.793	P;P	0.61275	0.824;0.886	T	0.79727	-0.1682	10	0.62326	D	0.03	-15.5887	10.6812	0.45815	0.9239:0.0:0.0761:0.0	.	311;311	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	H	311	ENSP00000220592:Y311H;ENSP00000430176:Y311H	ENSP00000220592:Y311H	Y	-	1	0	EIF2C2	141636465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.200000	0.95010	0.848000	0.35191	0.533000	0.62120	TAT	EIF2C2	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000123908		0.607	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	66	0.00	0	A			141567283	141567283	-1	no_errors	ENST00000220592	ensembl	human	known	69_37n	missense	65	37.50	42	SNP	1.000	G
EIF2S3	1968	genome.wustl.edu	37	X	24089733	24089733	+	Silent	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:24089733A>T	ENST00000253039.4	+	10	1324	c.1071A>T	c.(1069-1071)gtA>gtT	p.V357V		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	357					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TGGGGCAAGTACTTGGTGCAG	0.413																																						dbGAP											0													71.0	71.0	71.0					X																	24089733		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1071A>T	X.37:g.24089733A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BTZ4	Silent	SNP	pfam_ProtSyn_GTP-bd,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_ProtSyn_GTP-bd	p.V357	ENST00000253039.4	37	c.1071	CCDS14210.1	X																																																																																			EIF2S3	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000130741		0.413	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S3	HGNC	protein_coding	OTTHUMT00000056079.1	48	0.00	0	A	NM_001415		24089733	24089733	+1	no_errors	ENST00000253039	ensembl	human	known	69_37n	silent	75	13.79	12	SNP	0.276	T
EIF3G	8666	genome.wustl.edu	37	19	10229396	10229396	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:10229396C>T	ENST00000253108.4	-	5	290	c.248G>A	c.(247-249)cGc>cAc	p.R83H	EIF3G_ENST00000587168.1_5'Flank	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCTGAAGGTGCGGACAATCTG	0.557																																					Colon(124;1100 1638 3822 4510 4876)	dbGAP											0													57.0	50.0	52.0					19																	10229396		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"""RNA binding motif (RRM) containing"""	3274	protein-coding gene	gene with protein product		603913	"""eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"""	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.248G>A	19.37:g.10229396C>T	ENSP00000253108:p.Arg83His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	p.R83H	ENST00000253108.4	37	c.248	CCDS12227.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.264993	0.95399	.	.	ENSG00000130811	ENST00000253108	T	0.15487	2.42	5.5	5.5	0.81552	Eukaryotic translation initiation factor 3 subunit G, N terminal (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.98	T	0.56329	-0.7997	10	0.72032	D	0.01	-15.2972	18.153	0.89682	0.0:1.0:0.0:0.0	.	83;83	B0AZV5;O75821	.;EIF3G_HUMAN	H	83	ENSP00000253108:R83H	ENSP00000253108:R83H	R	-	2	0	EIF3G	10090396	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	6.892000	0.75644	2.572000	0.86782	0.655000	0.94253	CGC	EIF3G	-	pfam_eIF3g_N,pirsf_Transl_init_eIF-3_G	ENSG00000130811		0.557	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000451144.1	35	0.00	0	C			10229396	10229396	-1	no_errors	ENST00000253108	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	1.000	T
ELAVL4	1996	genome.wustl.edu	37	1	50572059	50572059	+	5'Flank	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:50572059A>G	ENST00000371823.4	+	0	0				ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371824.1_5'Flank|ELAVL4_ENST00000357083.4_Silent_p.S18S|ELAVL4_ENST00000371827.1_Intron	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4						mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GAAACTGCTCATTTATGGTAA	0.443																																						dbGAP											0													84.0	78.0	80.0					1																	50572059		1568	3582	5150	-	-	-	SO:0001631	upstream_gene_variant	0			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877		1.37:g.50572059A>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.S18	ENST00000371823.4	37	c.54	CCDS553.1	1																																																																																			ELAVL4	-	NULL	ENSG00000162374		0.443	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	76	0.00	0	A	NM_021952		50572059	50572059	+1	no_errors	ENST00000357083	ensembl	human	known	69_37n	silent	84	29.41	35	SNP	1.000	G
ELK1	2002	genome.wustl.edu	37	X	47496235	47496235	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:47496235T>C	ENST00000247161.3	-	6	1379	c.1280A>G	c.(1279-1281)aAg>aGg	p.K427R	ELK1_ENST00000592066.1_Missense_Mutation_p.K373R|ELK1_ENST00000376983.3_Missense_Mutation_p.K427R	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	427					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TAGTCATGGCTTCTGGGGCCC	0.592																																						dbGAP											0													10.0	11.0	11.0					X																	47496235		2131	4161	6292	-	-	-	SO:0001583	missense	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.1280A>G	X.37:g.47496235T>C	ENSP00000247161:p.Lys427Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.K427R	ENST00000247161.3	37	c.1280	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738420	0.89573	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.55413	0.52;0.52	5.19	5.19	0.71726	.	0.050262	0.85682	D	0.000000	T	0.51719	0.1691	M	0.76170	2.325	0.80722	D	1	P	0.45348	0.856	B	0.38842	0.283	T	0.59096	-0.7518	10	0.54805	T	0.06	.	11.9374	0.52880	0.0:0.0:0.0:1.0	.	427	P19419	ELK1_HUMAN	R	427;120;427	ENSP00000247161:K427R;ENSP00000366182:K427R	ENSP00000247161:K427R	K	-	2	0	ELK1	47381179	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.913000	0.87471	1.720000	0.51447	0.417000	0.27973	AAG	ELK1	-	NULL	ENSG00000126767		0.592	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	42	0.00	0	T	NM_005229		47496235	47496235	-1	no_errors	ENST00000247161	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	1.000	C
ELOVL5	60481	genome.wustl.edu	37	6	53156753	53156753	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:53156753C>T	ENST00000542638.1	-	3	514	c.67G>A	c.(67-69)Gta>Ata	p.V23I	ELOVL5_ENST00000541407.1_Missense_Mutation_p.V23I|ELOVL5_ENST00000304434.6_Missense_Mutation_p.V23I|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000370918.4_Missense_Mutation_p.V23I			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	23					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CATCCTTTTACTCTAGTATCT	0.274																																						dbGAP											0													59.0	62.0	61.0					6																	53156753		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.67G>A	6.37:g.53156753C>T	ENSP00000440728:p.Val23Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.V23I	ENST00000542638.1	37	c.67	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.281990	0.95489	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.24538	1.87;1.88;1.88;1.85	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.92169	3.28	0.80722	D	1	P;B;P	0.50943	0.94;0.365;0.85	P;B;P	0.56216	0.794;0.156;0.507	T	0.59726	-0.7400	10	0.52906	T	0.07	-7.8142	20.3593	0.98849	0.0:1.0:0.0:0.0	.	23;23;23	F6SH78;B3KWH9;Q9NYP7	.;.;ELOV5_HUMAN	I	23	ENSP00000359956:V23I;ENSP00000306640:V23I;ENSP00000440728:V23I;ENSP00000438095:V23I	ENSP00000306640:V23I	V	-	1	0	ELOVL5	53264712	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.324000	0.79115	2.807000	0.96579	0.591000	0.81541	GTA	ELOVL5	-	NULL	ENSG00000012660		0.274	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	HGNC	protein_coding	OTTHUMT00000043566.1	58	0.00	0	C	NM_021814		53156753	53156753	-1	no_errors	ENST00000541407	ensembl	human	known	69_37n	missense	53	45.45	45	SNP	1.000	T
EMC2	9694	genome.wustl.edu	37	8	109489020	109489020	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:109489020A>G	ENST00000220853.3	+	9	636	c.601A>G	c.(601-603)Acc>Gcc	p.T201A	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	201						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGTTAAGTATACCCAAGGTGG	0.333																																						dbGAP											0													98.0	99.0	99.0					8																	109489020		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.601A>G	8.37:g.109489020A>G	ENSP00000220853:p.Thr201Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUE1	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T201A	ENST00000220853.3	37	c.601	CCDS6309.1	8	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467148	0.43839	.	.	ENSG00000104412	ENST00000220853	T	0.75154	-0.91	6.06	4.92	0.64577	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.78456	2.415	0.80722	D	1	D	0.56968	0.978	P	0.54401	0.751	T	0.79269	-0.1873	10	0.30078	T	0.28	-2.8596	12.1218	0.53895	0.9335:0.0:0.0665:0.0	.	201	Q15006	TTC35_HUMAN	A	201	ENSP00000220853:T201A	ENSP00000220853:T201A	T	+	1	0	TTC35	109558196	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	8.718000	0.91430	1.121000	0.41925	-0.256000	0.11100	ACC	EMC2	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000104412		0.333	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC2	HGNC	protein_coding	OTTHUMT00000380717.1	153	0.00	0	A	NM_014673		109489020	109489020	+1	no_errors	ENST00000220853	ensembl	human	known	69_37n	missense	165	20.19	42	SNP	1.000	G
EMILIN3	90187	genome.wustl.edu	37	20	39990972	39990972	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:39990972C>T	ENST00000332312.3	-	4	1429	c.1237G>A	c.(1237-1239)Ggt>Agt	p.G413S		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	413						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCCGGGGCACCGGGGCCCCTT	0.647																																						dbGAP											0													40.0	45.0	43.0					20																	39990972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1237G>A	20.37:g.39990972C>T	ENSP00000332806:p.Gly413Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	pfam_EMI_domain,pfscan_EMI_domain	p.G413S	ENST00000332312.3	37	c.1237	CCDS13316.1	20	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.394394	0.00200	.	.	ENSG00000183798	ENST00000332312	T	0.13196	2.61	5.14	-0.318	0.12728	.	0.885927	0.09821	N	0.751462	T	0.06325	0.0163	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44682	-0.9312	9	.	.	.	-4.3408	6.7017	0.23229	0.0:0.4045:0.1483:0.4472	.	413	Q9NT22	EMIL3_HUMAN	S	413	ENSP00000332806:G413S	.	G	-	1	0	EMILIN3	39424386	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.376000	0.02561	-0.296000	0.08947	-0.254000	0.11334	GGT	EMILIN3	-	NULL	ENSG00000183798		0.647	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN3	HGNC	protein_coding	OTTHUMT00000106876.2	26	0.00	0	C	XM_029741		39990972	39990972	-1	no_errors	ENST00000332312	ensembl	human	known	69_37n	missense	15	44.44	12	SNP	0.000	T
EML5	161436	genome.wustl.edu	37	14	89124579	89124579	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:89124579delT	ENST00000380664.5	-	26	3828	c.3829delA	c.(3829-3831)aggfs	p.R1277fs	EML5_ENST00000352093.5_Frame_Shift_Del_p.R1239fs|EML5_ENST00000554922.1_Frame_Shift_Del_p.R1277fs			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1277						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCACAAGGCCTTTTTTCTCGA	0.393																																						dbGAP											0													124.0	114.0	117.0					14																	89124579		1873	4103	5976	-	-	-	SO:0001589	frameshift_variant	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3829delA	14.37:g.89124579delT	ENSP00000370039:p.Arg1277fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1277fs	ENST00000380664.5	37	c.3829	CCDS45148.1	14																																																																																			EML5	-	NULL	ENSG00000165521		0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	73	0.00	0	T			89124579	89124579	-1	no_errors	ENST00000554922	ensembl	human	known	69_37n	frame_shift_del	51	43.96	40	DEL	1.000	-
EMP2	2013	genome.wustl.edu	37	16	10626885	10626885	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:10626885G>A	ENST00000359543.3	-	5	590	c.381C>T	c.(379-381)aaC>aaT	p.N127N	EMP2_ENST00000566033.1_5'Flank|EMP2_ENST00000536829.1_Silent_p.N127N|RP11-27M24.1_ENST00000535363.1_RNA	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	127					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						AGAATTTCGCGTTTTTGTCGT	0.498																																					GBM(158;2021 2691 14714 39478)	dbGAP											0													175.0	139.0	151.0					16																	10626885		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.381C>T	16.37:g.10626885G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V6|D3DUF8	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_EMP_2,prints_PMP22_EMP_MP20	p.N127	ENST00000359543.3	37	c.381	CCDS10541.1	16																																																																																			EMP2	-	pfam_PMP22/EMP/MP20/Claudin,prints_EMP_2	ENSG00000213853		0.498	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP2	HGNC	protein_coding	OTTHUMT00000251965.1	74	0.00	0	G	NM_001424		10626885	10626885	-1	no_errors	ENST00000359543	ensembl	human	known	69_37n	silent	91	20.18	23	SNP	0.000	A
ENAH	55740	genome.wustl.edu	37	1	225700686	225700686	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:225700686A>G	ENST00000366844.3	-	8	1702	c.1251T>C	c.(1249-1251)aaT>aaC	p.N417N	ENAH_ENST00000284563.6_Silent_p.N664N|ENAH_ENST00000366843.2_Silent_p.N417N	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	417	EVH2.				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)		CACCAATAGCATTCCCTCCAC	0.403																																						dbGAP											0													106.0	103.0	104.0					1																	225700686		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1251T>C	1.37:g.225700686A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.N417	ENST00000366844.3	37	c.1251	CCDS31041.1	1																																																																																			ENAH	-	NULL	ENSG00000154380		0.403	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	91	0.00	0	A	NM_018212		225700686	225700686	-1	no_errors	ENST00000366844	ensembl	human	known	69_37n	silent	94	34.27	49	SNP	0.008	G
ENPP1	5167	genome.wustl.edu	37	6	132196979	132196979	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:132196979A>G	ENST00000360971.2	+	17	1719	c.1699A>G	c.(1699-1701)Att>Gtt	p.I567V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	567	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|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)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTTTGAAAACATTGAAGTCTA	0.408																																					Colon(104;336 1535 5856 11019 33782)	dbGAP											0													139.0	132.0	134.0					6																	132196979		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1699A>G	6.37:g.132196979A>G	ENSP00000354238:p.Ile567Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	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,prints_Somatomedin_B_chordata	p.I567V	ENST00000360971.2	37	c.1699	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811381	0.90707	.	.	ENSG00000197594	ENST00000360971	T	0.74002	-0.8	6.08	6.08	0.98989	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	L	0.37750	1.13	0.58432	D	0.999999	D;P	0.64830	0.994;0.581	D;B	0.70016	0.967;0.257	T	0.71945	-0.4439	10	0.25751	T	0.34	-25.7133	16.3149	0.82915	1.0:0.0:0.0:0.0	.	567;197	P22413;Q7Z3P5	ENPP1_HUMAN;.	V	567	ENSP00000354238:I567V	ENSP00000354238:I567V	I	+	1	0	ENPP1	132238672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.670000	0.83925	2.334000	0.79466	0.528000	0.53228	ATT	ENPP1	-	superfamily_Alkaline_phosphatase_core	ENSG00000197594		0.408	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	102	0.00	0	A			132196979	132196979	+1	no_errors	ENST00000360971	ensembl	human	known	69_37n	missense	100	40.48	68	SNP	1.000	G
ENTHD1	150350	genome.wustl.edu	37	22	40283459	40283459	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:40283459A>G	ENST00000325157.6	-	2	544	c.294T>C	c.(292-294)tgT>tgC	p.C98C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	98	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTTGAAGGTTACAGAACCCCT	0.398																																						dbGAP											0													135.0	137.0	136.0					22																	40283459		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.294T>C	22.37:g.40283459A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.C98	ENST00000325157.6	37	c.294	CCDS13998.1	22																																																																																			ENTHD1	-	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	ENSG00000176177		0.398	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	118	0.00	0	A	NM_152512		40283459	40283459	-1	no_errors	ENST00000325157	ensembl	human	known	69_37n	silent	72	45.45	60	SNP	1.000	G
EP300	2033	genome.wustl.edu	37	22	41568658	41568658	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:41568658A>T	ENST00000263253.7	+	28	5827	c.4608A>T	c.(4606-4608)gaA>gaT	p.E1536D	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1536	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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						CCAGCAATGAAAGCACAGATG	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													101.0	104.0	103.0					22																	41568658		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.4608A>T	22.37:g.41568658A>T	ENSP00000263253:p.Glu1536Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	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.E1536D	ENST00000263253.7	37	c.4608	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839803	0.71488	.	.	ENSG00000100393	ENST00000263253	D	0.93426	-3.22	6.03	-6.71	0.01760	.	0.000000	0.47093	D	0.000244	D	0.93612	0.7960	L	0.42581	1.335	0.32445	N	0.546214	D	0.76494	0.999	D	0.80764	0.994	D	0.91035	0.4867	10	0.41790	T	0.15	-13.2124	18.9329	0.92574	0.2556:0.0:0.7444:0.0	.	1536	Q09472	EP300_HUMAN	D	1536	ENSP00000263253:E1536D	ENSP00000263253:E1536D	E	+	3	2	EP300	39898604	0.981000	0.34729	0.484000	0.27391	0.991000	0.79684	0.161000	0.16481	-1.123000	0.02940	0.533000	0.62120	GAA	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000100393		0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	84	0.00	0	A	NM_001429		41568658	41568658	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	missense	58	45.79	49	SNP	0.976	T
EPB41L2	2037	genome.wustl.edu	37	6	131201317	131201317	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:131201317A>G	ENST00000337057.3	-	13	2044	c.1863T>C	c.(1861-1863)aaT>aaC	p.N621N	EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Silent_p.N20N|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_Silent_p.N621N|EPB41L2_ENST00000531410.1_Silent_p.N20N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	621	Spectrin--actin-binding.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGACATAAATATTATCCCCTT	0.403																																						dbGAP											0													86.0	84.0	84.0					6																	131201317		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1863T>C	6.37:g.131201317A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pfam_SAB,pfam_FERM-adjacent	p.Y112H	ENST00000337057.3	37	c.334	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	A	7.211	0.595497	0.13875	.	.	ENSG00000079819	ENST00000456097	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.65790	0.2725	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65981	-0.6036	4	.	.	.	.	16.0964	0.81127	1.0:0.0:0.0:0.0	.	.	.	.	H	112	.	.	Y	-	1	0	EPB41L2	131243010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.645000	0.61404	2.205000	0.71048	0.482000	0.46254	TAT	EPB41L2	-	NULL	ENSG00000079819		0.403	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	105	0.00	0	A			131201317	131201317	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456097	ensembl	human	novel	69_37n	missense	146	15.12	26	SNP	1.000	G
EPC2	26122	genome.wustl.edu	37	2	149447914	149447914	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:149447914A>T	ENST00000258484.6	+	2	319	c.285A>T	c.(283-285)aaA>aaT	p.K95N	EPC2_ENST00000409654.1_Missense_Mutation_p.K95N	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	95					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)		GAGAGTTTAAACAGCCAAAAC	0.343																																						dbGAP											0													188.0	180.0	183.0					2																	149447914		1851	4110	5961	-	-	-	SO:0001583	missense	0			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.285A>T	2.37:g.149447914A>T	ENSP00000258484:p.Lys95Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.K95N	ENST00000258484.6	37	c.285	CCDS46422.1	2	.	.	.	.	.	.	.	.	.	.	A	19.75	3.885680	0.72410	.	.	ENSG00000135999	ENST00000457184;ENST00000258484;ENST00000409654;ENST00000397424;ENST00000449013	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.67	2.14	0.27477	Enhancer of polycomb-like, N-terminal (1);	0.060719	0.64402	D	0.000008	T	0.57301	0.2044	M	0.78456	2.415	0.40446	D	0.980096	D	0.63046	0.992	D	0.63283	0.913	T	0.58544	-0.7618	10	0.66056	D	0.02	-6.6976	7.9039	0.29750	0.6058:0.0:0.3942:0.0	.	95	Q52LR7	EPC2_HUMAN	N	71;95;95;24;44	ENSP00000415543:K71N;ENSP00000258484:K95N;ENSP00000387097:K95N;ENSP00000380569:K24N;ENSP00000395431:K44N	ENSP00000258484:K95N	K	+	3	2	EPC2	149164384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.017000	0.29989	0.446000	0.26666	0.482000	0.46254	AAA	EPC2	-	pfam_Enhancer_polycomb-like_N	ENSG00000135999		0.343	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPC2	HGNC	protein_coding	OTTHUMT00000332278.1	138	0.00	0	A	NM_015630		149447914	149447914	+1	no_errors	ENST00000258484	ensembl	human	known	69_37n	missense	168	18.66	39	SNP	1.000	T
EPG5	57724	genome.wustl.edu	37	18	43432571	43432571	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:43432571A>G	ENST00000282041.5	-	44	7635	c.7601T>C	c.(7600-7602)gTt>gCt	p.V2534A		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2534					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGTATTCAACATACTGCTT	0.438																																						dbGAP											0													193.0	179.0	183.0					18																	43432571		1936	4132	6068	-	-	-	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7601T>C	18.37:g.43432571A>G	ENSP00000282041:p.Val2534Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.V2534A	ENST00000282041.5	37	c.7601	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.825240	0.00589	.	.	ENSG00000152223	ENST00000282041;ENST00000540322	T	0.09073	3.02	6.02	2.32	0.28847	.	0.380726	0.20073	U	0.099828	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	10	0.02654	T	1	1.1247	5.813	0.18477	0.6749:0.1293:0.1958:0.0	.	2534	Q9HCE0	EPG5_HUMAN	A	2534;462	ENSP00000282041:V2534A	ENSP00000282041:V2534A	V	-	2	0	EPG5	41686569	0.020000	0.18652	0.003000	0.11579	0.032000	0.12392	2.489000	0.45285	0.161000	0.19458	0.528000	0.53228	GTT	EPG5	-	NULL	ENSG00000152223		0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	137	0.00	0	A	NM_020964		43432571	43432571	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	missense	103	41.48	73	SNP	0.002	G
EPHB2	2048	genome.wustl.edu	37	1	23219497	23219497	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:23219497G>A	ENST00000400191.3	+	7	1567	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R	EPHB2_ENST00000374632.3_Missense_Mutation_p.G517R|EPHB2_ENST00000374627.1_Missense_Mutation_p.G512R|EPHB2_ENST00000374630.3_Missense_Mutation_p.G517R|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	517	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGCAGGTTACGGGCGCTACAG	0.587																																						dbGAP											0													66.0	66.0	66.0					1																	23219497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1549G>A	1.37:g.23219497G>A	ENSP00000383053:p.Gly517Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.G517R	ENST00000400191.3	37	c.1549		1	.	.	.	.	.	.	.	.	.	.	G	34	5.329509	0.95733	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	H	0.98965	4.385	0.80722	D	1	B;D;D;D	0.76494	0.029;0.999;0.996;0.989	B;D;D;D	0.73708	0.007;0.981;0.967;0.973	D	0.92130	0.5711	10	0.62326	D	0.03	.	17.5404	0.87845	0.0:0.0:1.0:0.0	.	517;517;535;517	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	R	517;517;517;517;512	ENSP00000363761:G517R;ENSP00000383053:G517R;ENSP00000363763:G517R;ENSP00000363758:G512R	ENSP00000363755:G517R	G	+	1	0	EPHB2	23092084	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.616000	0.98359	2.723000	0.93209	0.655000	0.94253	GGG	EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000133216		0.587	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	45	0.00	0	G	NM_017449		23219497	23219497	+1	no_errors	ENST00000400191	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	1.000	A
EPS15	2060	genome.wustl.edu	37	1	51866605	51866605	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:51866605G>T	ENST00000371733.3	-	19	1999	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T	EPS15_ENST00000371730.2_Missense_Mutation_p.P501T|EPS15_ENST00000493793.1_5'Flank|EPS15_ENST00000396122.4_Missense_Mutation_p.P312T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	635	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTCCAAAAGGATCATCCTTG	0.313			T	MLL	ALL																																	dbGAP		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											75.0	76.0	76.0					1																	51866605		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1903C>A	1.37:g.51866605G>T	ENSP00000360798:p.Pro635Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.P635T	ENST00000371733.3	37	c.1903	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785896	0.49997	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.17691	2.26;2.26;2.26	5.0	5.0	0.66597	.	.	.	.	.	T	0.43897	0.1268	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.28202	-1.0051	9	0.42905	T	0.14	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	501;635;321	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	T	501;635;312	ENSP00000360795:P501T;ENSP00000360798:P635T;ENSP00000379428:P312T	ENSP00000360795:P501T	P	-	1	0	EPS15	51639193	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.416000	0.90244	2.499000	0.84300	0.467000	0.42956	CCT	EPS15	-	NULL	ENSG00000085832		0.313	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	57	0.00	0	G	NM_001981		51866605	51866605	-1	no_errors	ENST00000371733	ensembl	human	known	69_37n	missense	80	12.09	11	SNP	1.000	T
EPS15	2060	genome.wustl.edu	37	1	51869127	51869127	+	Silent	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:51869127A>T	ENST00000371733.3	-	17	1851	c.1755T>A	c.(1753-1755)gtT>gtA	p.V585V	EPS15_ENST00000371730.2_Silent_p.V451V|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Silent_p.V262V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	585					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GTTCAGAACAAACTTTTTCAG	0.373			T	MLL	ALL																																	dbGAP		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											113.0	111.0	112.0					1																	51869127		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1755T>A	1.37:g.51869127A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.V585	ENST00000371733.3	37	c.1755	CCDS557.1	1																																																																																			EPS15	-	NULL	ENSG00000085832		0.373	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	118	0.00	0	A	NM_001981		51869127	51869127	-1	no_errors	ENST00000371733	ensembl	human	known	69_37n	silent	177	22.03	50	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212285236	212285236	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:212285236T>C	ENST00000342788.4	-	25	3375	c.3065A>G	c.(3064-3066)tAc>tGc	p.Y1022C	ERBB4_ENST00000402597.1_Missense_Mutation_p.Y1012C|ERBB4_ENST00000436443.1_Missense_Mutation_p.Y1022C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1022					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AGGGACCAAGTACTCCTCAGC	0.408										TSP Lung(8;0.080)																												dbGAP											0													106.0	97.0	100.0					2																	212285236		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3065A>G	2.37:g.212285236T>C	ENSP00000342235:p.Tyr1022Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y1022C	ENST00000342788.4	37	c.3065	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290003	0.80914	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76839	-1.03;-1.05;-1.05	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.71674	0.998;0.991;0.998;0.997	D;P;D;P	0.63113	0.911;0.818;0.911;0.817	D	0.89758	0.3945	10	0.87932	D	0	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	1012;1012;1022;1022	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	C	1022;1022;1012	ENSP00000342235:Y1022C;ENSP00000403204:Y1022C;ENSP00000385565:Y1012C	ENSP00000342235:Y1022C	Y	-	2	0	ERBB4	211993481	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	8.010000	0.88615	2.243000	0.73865	0.533000	0.62120	TAC	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom	ENSG00000178568		0.408	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	85	0.00	0	T	NM_001042599		212285236	212285236	-1	no_errors	ENST00000342788	ensembl	human	known	69_37n	missense	109	18.05	24	SNP	1.000	C
ERCC1	2067	genome.wustl.edu	37	19	45918179	45918179	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:45918179G>T	ENST00000300853.3	-	7	1233	c.642C>A	c.(640-642)gcC>gcA	p.A214A	ERCC1_ENST00000423698.2_Silent_p.A142A|ERCC1_ENST00000589165.1_Silent_p.A214A|ERCC1_ENST00000340192.7_Silent_p.A214A|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000013807.5_Silent_p.A214A|ERCC1_ENST00000588738.1_5'Flank	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	214					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TCTGCTCATAGGCCTTGTAGG	0.592								Nucleotide excision repair (NER)																														dbGAP											0													105.0	90.0	95.0					19																	45918179		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.642C>A	19.37:g.45918179G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like	p.L27I	ENST00000300853.3	37	c.79	CCDS12662.1	19																																																																																			ERCC1	-	superfamily_Restrct_endonuc-II-like	ENSG00000012061		0.592	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC1	HGNC	protein_coding	OTTHUMT00000459542.1	68	0.00	0	G	NM_001983		45918179	45918179	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000592444	ensembl	human	novel	69_37n	missense	32	56.16	41	SNP	0.994	T
ERCC6	2074	genome.wustl.edu	37	10	50668419	50668419	+	Splice_Site	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:50668419C>A	ENST00000355832.5	-	20	4140	c.4062G>T	c.(4060-4062)caG>caT	p.Q1354H	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Splice_Site_p.Q724H|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1354					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTATATTACCTGGCACTTCT	0.383								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													104.0	103.0	104.0					10																	50668419		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4062+1G>T	10.37:g.50668419C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1354H	ENST00000355832.5	37	c.4062	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529915	0.64860	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83075	-1.68;-1.41	6.0	6.0	0.97389	.	.	.	.	.	D	0.85847	0.5792	M	0.63428	1.95	0.58432	D	0.999998	D;D	0.56521	0.976;0.976	P;P	0.47744	0.556;0.556	D	0.85990	0.1488	9	0.54805	T	0.06	-10.8489	20.4949	0.99206	0.0:1.0:0.0:0.0	.	1354;731	Q03468;Q59FF6	ERCC6_HUMAN;.	H	1354;731;724	ENSP00000348089:Q1354H;ENSP00000445134:Q724H	ENSP00000348089:Q1354H	Q	-	3	2	ERCC6	50338425	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.010000	0.70753	2.848000	0.98002	0.655000	0.94253	CAG	ERCC6	-	NULL	ENSG00000225830		0.383	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	92	0.00	0	C	NM_000124	Missense_Mutation	50668419	50668419	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	124	20.51	32	SNP	1.000	A
ERCC6	2074	genome.wustl.edu	37	10	50732504	50732504	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:50732504T>C	ENST00000355832.5	-	5	1050	c.972A>G	c.(970-972)aaA>aaG	p.K324K	PGBD3_ENST00000603152.1_Silent_p.K324K|ERCC6-PGBD3_ENST00000515869.1_Silent_p.K324K|ERCC6-PGBD3_ENST00000447839.2_Silent_p.K324K|PGBD3_ENST00000374127.3_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	324					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACGCTCCTCTTTTTTGGACA	0.478								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													136.0	132.0	133.0					10																	50732504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.972A>G	10.37:g.50732504T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K324	ENST00000355832.5	37	c.972	CCDS7229.1	10																																																																																			ERCC6	-	NULL	ENSG00000225830		0.478	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	182	0.00	0	T	NM_000124		50732504	50732504	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	silent	210	18.29	47	SNP	0.302	C
ESPNP	284729	genome.wustl.edu	37	1	17017757	17017757	+	RNA	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:17017757G>A	ENST00000492551.1	-	0	1970					NR_026567.1				espin pseudogene																		ACCTCCAGGCGGGCATGCTGG	0.667																																						dbGAP											0																																										-	-	-			0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017757G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000116219		0.667	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	76	0.00	0	G			17017757	17017757	-1	no_errors	ENST00000492551	ensembl	human	known	69_37n	rna	63	10.00	7	SNP	0.986	A
ETV7	51513	genome.wustl.edu	37	6	36336758	36336758	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:36336758A>G	ENST00000340181.4	-	6	996	c.755T>C	c.(754-756)aTc>aCc	p.I252T	ETV7_ENST00000373737.4_Missense_Mutation_p.I175T|ETV7_ENST00000339796.5_Missense_Mutation_p.I252T|ETV7_ENST00000538992.1_Missense_Mutation_p.I101T|ETV7_ENST00000373738.1_Missense_Mutation_p.I197T	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	252					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AACTCGGAAGATCTTGGCGTC	0.527																																						dbGAP											0													210.0	188.0	196.0					6																	36336758		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.755T>C	6.37:g.36336758A>G	ENSP00000341843:p.Ile252Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.I252T	ENST00000340181.4	37	c.755	CCDS4819.1	6	.	.	.	.	.	.	.	.	.	.	A	21.3	4.136072	0.77662	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.28	4.28	0.50868	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.364370	0.25848	N	0.027908	T	0.15739	0.0379	L	0.33293	1	0.42767	D	0.993824	P;P;D;D;P;P	0.76494	0.949;0.762;0.999;0.961;0.952;0.936	D;P;D;D;P;P	0.91635	0.954;0.685;0.999;0.951;0.6;0.596	T	0.02345	-1.1173	10	0.44086	T	0.13	.	13.0971	0.59200	1.0:0.0:0.0:0.0	.	193;175;197;252;197;252	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	T	252;252;175;197;101	ENSP00000342260:I252T;ENSP00000341843:I252T;ENSP00000362842:I175T;ENSP00000362843:I197T;ENSP00000440592:I101T	ENSP00000342260:I252T	I	-	2	0	ETV7	36444736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.471000	0.90403	1.567000	0.49668	0.533000	0.62120	ATC	ETV7	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000010030		0.527	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETV7	HGNC	protein_coding	OTTHUMT00000040341.1	120	0.00	0	A	NM_016135		36336758	36336758	-1	no_errors	ENST00000340181	ensembl	human	known	69_37n	missense	152	13.14	23	SNP	1.000	G
EXT1	2131	genome.wustl.edu	37	8	119122937	119122937	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:119122937A>T	ENST00000378204.2	-	1	1155	c.349T>A	c.(349-351)Tac>Aac	p.Y117N		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	117					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGGTATACGTAGACTTTGAAG	0.512			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													79.0	82.0	81.0					8																	119122937		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.349T>A	8.37:g.119122937A>T	ENSP00000367446:p.Tyr117Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V2|Q9BVI9	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.Y117N	ENST00000378204.2	37	c.349	CCDS6324.1	8	.	.	.	.	.	.	.	.	.	.	A	19.76	3.886597	0.72410	.	.	ENSG00000182197	ENST00000378204	D	0.99399	-5.83	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	D	0.99670	0.9877	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97478	1.0045	10	0.87932	D	0	-0.7083	15.5438	0.76077	1.0:0.0:0.0:0.0	.	117	Q16394	EXT1_HUMAN	N	117	ENSP00000367446:Y117N	ENSP00000367446:Y117N	Y	-	1	0	EXT1	119192118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.206000	0.95056	2.068000	0.61886	0.379000	0.24179	TAC	EXT1	-	pfam_Exostosin	ENSG00000182197		0.512	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	74	0.00	0	A	NM_000127		119122937	119122937	-1	no_errors	ENST00000378204	ensembl	human	known	69_37n	missense	91	41.29	64	SNP	1.000	T
EXT1	2131	genome.wustl.edu	37	8	119123053	119123053	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:119123053A>T	ENST00000378204.2	-	1	1039	c.233T>A	c.(232-234)gTg>gAg	p.V78E		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	78					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGAAATGTGCACGCTGGAATC	0.567			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													59.0	60.0	60.0					8																	119123053		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.233T>A	8.37:g.119123053A>T	ENSP00000367446:p.Val78Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V2|Q9BVI9	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.V78E	ENST00000378204.2	37	c.233	CCDS6324.1	8	.	.	.	.	.	.	.	.	.	.	A	0.380	-0.929292	0.02359	.	.	ENSG00000182197	ENST00000378204	D	0.96073	-3.9	5.58	3.24	0.37175	.	0.222920	0.29745	N	0.011302	D	0.84964	0.5589	N	0.12182	0.205	0.28351	N	0.920903	B	0.02656	0.0	B	0.04013	0.001	T	0.71886	-0.4457	10	0.05436	T	0.98	0.0067	4.3563	0.11179	0.4658:0.3003:0.2339:0.0	.	78	Q16394	EXT1_HUMAN	E	78	ENSP00000367446:V78E	ENSP00000367446:V78E	V	-	2	0	EXT1	119192234	0.002000	0.14202	1.000000	0.80357	0.982000	0.71751	0.154000	0.16343	0.953000	0.37825	0.379000	0.24179	GTG	EXT1	-	NULL	ENSG00000182197		0.567	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	49	0.00	0	A	NM_000127		119123053	119123053	-1	no_errors	ENST00000378204	ensembl	human	known	69_37n	missense	61	33.70	31	SNP	0.698	T
F13A1	2162	genome.wustl.edu	37	6	6251074	6251074	+	Silent	SNP	G	G	A	rs143741081	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:6251074G>A	ENST00000264870.3	-	5	925	c.660C>T	c.(658-660)gaC>gaT	p.D220D		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	220					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGGTCTTGATGTCATTGACCT	0.393													G|||	7	0.00139776	0.0	0.0	5008	,	,		20660	0.005		0.0	False		,,,				2504	0.002					dbGAP											0													145.0	137.0	140.0					6																	6251074		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.660C>T	6.37:g.6251074G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.D220	ENST00000264870.3	37	c.660	CCDS4496.1	6																																																																																			F13A1	-	NULL	ENSG00000124491		0.393	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	121	0.00	0	G	NM_000129		6251074	6251074	-1	no_errors	ENST00000264870	ensembl	human	known	69_37n	silent	106	38.01	65	SNP	0.962	A
F8	2157	genome.wustl.edu	37	X	154132573	154132573	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:154132573T>C	ENST00000360256.4	-	17	6013	c.5813A>G	c.(5812-5814)cAt>cGt	p.H1938R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1938	F5/8 type A 3.|Plastocyanin-like 6.				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)	TATATTACCATGGAAGCGATA	0.378																																						dbGAP											0			GRCh37	CM083809	F8	M							167.0	168.0	168.0					X																	154132573		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5813A>G	X.37:g.154132573T>C	ENSP00000353393:p.His1938Arg	Somatic		WXS	Illumina GAIIx	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.H1938R	ENST00000360256.4	37	c.5813	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137846	0.56936	.	.	ENSG00000185010	ENST00000360256	D	0.99795	-6.78	4.23	4.23	0.50019	Cupredoxin (2);	0.350887	0.34025	N	0.004331	D	0.99551	0.9839	M	0.88570	2.965	0.80722	D	1	B;P	0.36144	0.305;0.539	B;P	0.44623	0.206;0.455	D	0.98168	1.0450	10	0.72032	D	0.01	-11.45	11.945	0.52924	0.0:0.0:0.0:1.0	.	66;1938	Q2VF45;P00451	.;FA8_HUMAN	R	1938	ENSP00000353393:H1938R	ENSP00000353393:H1938R	H	-	2	0	F8	153785767	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.050000	0.41297	1.651000	0.50673	0.388000	0.25769	CAT	F8	-	superfamily_Cupredoxin	ENSG00000185010		0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	100	0.00	0	T			154132573	154132573	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	missense	131	31.05	59	SNP	1.000	C
DENND6A	201627	genome.wustl.edu	37	3	57619029	57619029	+	Missense_Mutation	SNP	T	T	G	rs145686957	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:57619029T>G	ENST00000311128.5	-	15	1386	c.1316A>C	c.(1315-1317)tAt>tCt	p.Y439S	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	439					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TTCCAAAAAATAGCGTCGAAG	0.299																																						dbGAP											0													81.0	84.0	83.0					3																	57619029		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1316A>C	3.37:g.57619029T>G	ENSP00000311401:p.Tyr439Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom	p.Y439S	ENST00000311128.5	37	c.1316	CCDS33773.1	3	.	.	.	.	.	.	.	.	.	.	T	17.65	3.443177	0.63067	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.49	4.34	0.51931	.	0.054971	0.85682	D	0.000000	T	0.42223	0.1193	L	0.46614	1.455	0.51482	D	0.999923	P	0.41313	0.745	B	0.33196	0.159	T	0.42258	-0.9462	9	0.66056	D	0.02	-13.3977	11.5164	0.50524	0.0:0.0706:0.0:0.9294	.	439	Q8IWF6	F116A_HUMAN	S	439	.	ENSP00000311401:Y439S	Y	-	2	0	FAM116A	57594069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.570000	0.82390	1.016000	0.39470	0.455000	0.32223	TAT	FAM116A	-	pfam_Afi1_N	ENSG00000174839		0.299	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM116A	HGNC	protein_coding	OTTHUMT00000351594.1	61	0.00	0	T	NM_152678		57619029	57619029	-1	no_errors	ENST00000311128	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	1.000	G
FAM131A	131408	genome.wustl.edu	37	3	184059929	184059929	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:184059929A>G	ENST00000310585.4	+	1	1672	c.308A>G	c.(307-309)gAg>gGg	p.E103G	FAM131A_ENST00000450976.1_Missense_Mutation_p.E49G|FAM131A_ENST00000453072.1_Missense_Mutation_p.E49G|FAM131A_ENST00000383847.2_Missense_Mutation_p.E134G|FAM131A_ENST00000418281.1_Missense_Mutation_p.E11G|FAM131A_ENST00000340957.5_Missense_Mutation_p.E49G|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	103						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCTCATTGAGTGGAAGGGC	0.592																																						dbGAP											0													111.0	109.0	110.0					3																	184059929		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.308A>G	3.37:g.184059929A>G	ENSP00000310135:p.Glu103Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	NULL	p.E134G	ENST00000310585.4	37	c.401		3	.	.	.	.	.	.	.	.	.	.	a	29.8	5.036217	0.93630	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000433578;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.70595	2.14	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.68010	-0.5522	10	0.87932	D	0	-18.2682	14.6797	0.69006	1.0:0.0:0.0:0.0	.	103;134;11	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	G	49;11;49;49;49;134;49;103	ENSP00000388551:E49G;ENSP00000414050:E11G;ENSP00000340974:E49G;ENSP00000399875:E49G;ENSP00000414913:E49G;ENSP00000373360:E134G;ENSP00000390588:E49G;ENSP00000310135:E103G	ENSP00000310135:E103G	E	+	2	0	FAM131A	185542623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.729000	0.91490	2.093000	0.63338	0.533000	0.62120	GAG	FAM131A	-	NULL	ENSG00000175182		0.592	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	52	0.00	0	A	NM_144635		184059929	184059929	+1	no_errors	ENST00000383847	ensembl	human	known	69_37n	missense	56	27.27	21	SNP	1.000	G
FAM13B	51306	genome.wustl.edu	37	5	137347505	137347505	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:137347505A>G	ENST00000033079.3	-	5	951	c.500T>C	c.(499-501)aTt>aCt	p.I167T	FAM13B_ENST00000420893.2_Missense_Mutation_p.I167T|FAM13B_ENST00000425075.2_Missense_Mutation_p.I49T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	167	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TGCGGACCAAATTTCTTCATG	0.333																																						dbGAP											0													43.0	45.0	44.0					5																	137347505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.500T>C	5.37:g.137347505A>G	ENSP00000033079:p.Ile167Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.I167T	ENST00000033079.3	37	c.500	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270637	0.40194	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.17691	2.26;2.26;2.26	5.43	5.43	0.79202	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.278027	0.40222	N	0.001157	T	0.10594	0.0259	N	0.08118	0	0.38653	D	0.951881	B;B;B	0.33549	0.096;0.417;0.379	B;B;B	0.32533	0.054;0.085;0.147	T	0.25293	-1.0136	10	0.44086	T	0.13	-6.3218	15.484	0.75551	1.0:0.0:0.0:0.0	.	49;167;167	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	T	167;49;167	ENSP00000033079:I167T;ENSP00000394669:I49T;ENSP00000388521:I167T	ENSP00000033079:I167T	I	-	2	0	FAM13B	137375404	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.697000	0.61782	2.068000	0.61886	0.467000	0.42956	ATT	FAM13B	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000031003		0.333	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	48	0.00	0	A			137347505	137347505	-1	no_errors	ENST00000033079	ensembl	human	known	69_37n	missense	44	40.54	30	SNP	1.000	G
FAM13C	220965	genome.wustl.edu	37	10	61014181	61014181	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:61014181A>G	ENST00000373868.2	-	11	1346	c.1259T>C	c.(1258-1260)cTc>cCc	p.L420P	FAM13C_ENST00000277705.6_Missense_Mutation_p.L441P|FAM13C_ENST00000422313.2_Missense_Mutation_p.L420P|FAM13C_ENST00000435852.2_Missense_Mutation_p.L420P|FAM13C_ENST00000419214.2_Missense_Mutation_p.L322P|FAM13C_ENST00000468840.2_Missense_Mutation_p.L337P|FAM13C_ENST00000373867.3_Missense_Mutation_p.L337P|FAM13C_ENST00000442566.3_Missense_Mutation_p.L441P	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	420										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						CGGCTTTATGAGGTTCTTGTC	0.353																																						dbGAP											0													241.0	235.0	237.0					10																	61014181		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1259T>C	10.37:g.61014181A>G	ENSP00000362975:p.Leu420Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.L420P	ENST00000373868.2	37	c.1259	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	A	15.74	2.923077	0.52653	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;0.82;-1.25;-1.25;-1.25	5.51	4.35	0.52113	.	0.087235	0.49305	N	0.000151	T	0.70988	0.3287	L	0.43152	1.355	0.80722	D	1	B;P;P;P;B	0.42456	0.238;0.701;0.78;0.487;0.144	B;B;B;B;B	0.41412	0.092;0.356;0.345;0.171;0.123	T	0.67983	-0.5529	10	0.37606	T	0.19	-2.8107	11.6066	0.51035	0.9292:0.0:0.0708:0.0	.	420;337;420;322;420	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	P	337;420;441;441;322;337;420;420	ENSP00000362974:L337P;ENSP00000362975:L420P;ENSP00000395661:L441P;ENSP00000277705:L441P;ENSP00000391993:L322P;ENSP00000423896:L337P;ENSP00000392302:L420P;ENSP00000400241:L420P	ENSP00000277705:L441P	L	-	2	0	FAM13C	60684187	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.916000	0.75776	0.881000	0.35993	0.454000	0.30748	CTC	FAM13C	-	NULL	ENSG00000148541		0.353	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	153	0.00	0	A			61014181	61014181	-1	no_errors	ENST00000373868	ensembl	human	known	69_37n	missense	200	19.03	47	SNP	1.000	G
FAM155B	27112	genome.wustl.edu	37	X	68725672	68725672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:68725672delA	ENST00000252338.4	+	1	589	c.547delA	c.(547-549)aaafs	p.K184fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	184						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCTCCGCCAAAAAAAACTT	0.592																																						dbGAP											0													42.0	43.0	43.0					X																	68725672		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.547delA	X.37:g.68725672delA	ENSP00000252338:p.Lys184fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Del	DEL	NULL	p.N185fs	ENST00000252338.4	37	c.547	CCDS35317.1	X																																																																																			FAM155B	-	NULL	ENSG00000130054		0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1	37	0.00	0	A	NM_015686		68725672	68725672	+1	no_errors	ENST00000252338	ensembl	human	known	69_37n	frame_shift_del	31	29.79	14	DEL	0.996	-
FAM178A	55719	genome.wustl.edu	37	10	102684177	102684177	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:102684177A>G	ENST00000238961.4	+	5	1961	c.1419A>G	c.(1417-1419)ctA>ctG	p.L473L	FAM178A_ENST00000370271.3_Silent_p.L473L|FAM178A_ENST00000370269.3_Silent_p.L473L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	473						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AGACAAAACTACCTTTACTTT	0.383																																						dbGAP											0													80.0	88.0	85.0					10																	102684177		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1419A>G	10.37:g.102684177A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	NULL	p.L473	ENST00000238961.4	37	c.1419	CCDS7500.1	10																																																																																			FAM178A	-	NULL	ENSG00000119906		0.383	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	26	0.00	0	A			102684177	102684177	+1	no_errors	ENST00000370269	ensembl	human	known	69_37n	silent	42	12.50	6	SNP	0.993	G
FAM184A	79632	genome.wustl.edu	37	6	119282932	119282932	+	Missense_Mutation	SNP	A	A	T	rs186112489		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:119282932A>T	ENST00000338891.7	-	17	3778	c.3335T>A	c.(3334-3336)tTt>tAt	p.F1112Y	FAM184A_ENST00000352896.5_Missense_Mutation_p.F943Y|FAM184A_ENST00000521531.1_Missense_Mutation_p.F1028Y|FAM184A_ENST00000368475.4_Missense_Mutation_p.F908Y|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1112						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCACCTCAAAAATGTCTTGGG	0.418													A|||	1	0.000199681	0.0	0.0	5008	,	,		15696	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													177.0	178.0	178.0					6																	119282932		1895	4120	6015	-	-	-	SO:0001583	missense	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3335T>A	6.37:g.119282932A>T	ENSP00000342604:p.Phe1112Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.F1112Y	ENST00000338891.7	37	c.3335	CCDS43499.1	6	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	16.70	3.195477	0.58126	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.32272	2.41;2.38;1.52;1.46	5.18	5.18	0.71444	.	0.138317	0.49916	D	0.000139	T	0.20941	0.0504	L	0.56769	1.78	0.80722	D	1	P;B;P	0.40376	0.664;0.437;0.715	B;B;B	0.38500	0.275;0.26;0.243	T	0.03910	-1.0993	10	0.49607	T	0.09	-7.0825	15.0336	0.71728	1.0:0.0:0.0:0.0	.	1028;943;1112	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Y	240;1112;943;908;1028	ENSP00000342604:F1112Y;ENSP00000326608:F943Y;ENSP00000357460:F908Y;ENSP00000430442:F1028Y	ENSP00000342604:F1112Y	F	-	2	0	FAM184A	119324631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.779000	0.91792	1.955000	0.56771	0.477000	0.44152	TTT	FAM184A	-	NULL	ENSG00000111879		0.418	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	83	0.00	0	A	NM_024581		119282932	119282932	-1	no_errors	ENST00000338891	ensembl	human	known	69_37n	missense	61	54.81	74	SNP	1.000	T
FAM188A	80013	genome.wustl.edu	37	10	15838114	15838114	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:15838114T>C	ENST00000277632.3	-	11	1160	c.940A>G	c.(940-942)Acc>Gcc	p.T314A	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000378036.1_Missense_Mutation_p.T19A	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	314					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GGGTCGTAGGTTTGAAAAACT	0.358																																					Pancreas(159;946 1953 2111 4475 22008)	dbGAP											0													137.0	146.0	142.0					10																	15838114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.940A>G	10.37:g.15838114T>C	ENSP00000277632:p.Thr314Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	NULL	p.T314A	ENST00000277632.3	37	c.940	CCDS7110.1	10	.	.	.	.	.	.	.	.	.	.	T	11.52	1.664477	0.29604	.	.	ENSG00000148481	ENST00000277632;ENST00000378036;ENST00000378033;ENST00000418767	T;T	0.39997	1.69;1.05	6.08	6.08	0.98989	EF-hand-like domain (1);	0.096359	0.64402	D	0.000001	T	0.25457	0.0619	N	0.12887	0.27	0.48632	D	0.999689	B	0.26445	0.149	B	0.29077	0.098	T	0.10590	-1.0623	10	0.06494	T	0.89	-2.128	15.2222	0.73320	0.0:0.0:0.0:1.0	.	314	Q9H8M7	F188A_HUMAN	A	314;19;19;154	ENSP00000277632:T314A;ENSP00000388661:T154A	ENSP00000277632:T314A	T	-	1	0	FAM188A	15878120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.290000	0.59019	2.333000	0.79357	0.482000	0.46254	ACC	FAM188A	-	NULL	ENSG00000148481		0.358	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188A	HGNC	protein_coding	OTTHUMT00000046990.2	58	0.00	0	T	NM_024948		15838114	15838114	-1	no_errors	ENST00000277632	ensembl	human	known	69_37n	missense	127	11.81	17	SNP	1.000	C
FAM193A	8603	genome.wustl.edu	37	4	2733551	2733551	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:2733551T>C	ENST00000324666.5	+	20	4105	c.3754T>C	c.(3754-3756)Tgg>Cgg	p.W1252R	FAM193A_ENST00000502458.1_Missense_Mutation_p.W1233R|FAM193A_ENST00000505311.1_3'UTR|FAM193A_ENST00000382839.3_Missense_Mutation_p.W1211R	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1252										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						GTCTATCAACTGGTCCAATTT	0.512																																						dbGAP											0													133.0	129.0	131.0					4																	2733551		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3754T>C	4.37:g.2733551T>C	ENSP00000324587:p.Trp1252Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.W1252R	ENST00000324666.5	37	c.3754	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699724	0.68501	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000502458	T;T;T	0.50277	0.75;0.75;0.75	5.14	3.93	0.45458	.	0.222920	0.40385	N	0.001107	T	0.56321	0.1977	L	0.38175	1.15	0.80722	D	1	B;P;D;D	0.69078	0.382;0.9;0.993;0.997	B;P;D;D	0.85130	0.211;0.481;0.991;0.997	T	0.56745	-0.7928	10	0.72032	D	0.01	-3.415	10.4846	0.44713	0.1454:0.0:0.0:0.8546	.	1233;1252;1233;1211	E9PFA1;P78312;B7ZM85;P78312-2	.;F193A_HUMAN;.;.	R	1211;1252;1233	ENSP00000372290:W1211R;ENSP00000324587:W1252R;ENSP00000427505:W1233R	ENSP00000324587:W1252R	W	+	1	0	FAM193A	2703349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.740000	0.84986	0.768000	0.33290	0.459000	0.35465	TGG	FAM193A	-	NULL	ENSG00000125386		0.512	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	76	0.00	0	T	NM_003704		2733551	2733551	+1	no_errors	ENST00000324666	ensembl	human	known	69_37n	missense	61	29.07	25	SNP	1.000	C
FAM193B	54540	genome.wustl.edu	37	5	176959539	176959539	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:176959539T>G	ENST00000514747.1	-	5	1228	c.1180A>C	c.(1180-1182)Agc>Cgc	p.S394R	FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000443375.2_Missense_Mutation_p.S281R	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	394						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CGCTCAGAGCTGCTATCCTCT	0.607																																						dbGAP											0													28.0	33.0	32.0					5																	176959539		2071	4237	6308	-	-	-	SO:0001583	missense	0				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1180A>C	5.37:g.176959539T>G	ENSP00000422131:p.Ser394Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PET5|Q9NW00	Missense_Mutation	SNP	NULL	p.S281R	ENST00000514747.1	37	c.841	CCDS54954.1	5	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761580	0.69763	.	.	ENSG00000146067	ENST00000514747;ENST00000443375	T;T	0.74737	-0.87;-0.87	5.27	5.27	0.74061	.	0.000000	0.85682	U	0.000000	D	0.82351	0.5018	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.81963	-0.0692	10	0.40728	T	0.16	-5.2755	15.2137	0.73247	0.0:0.0:0.0:1.0	.	394;281	E9PET5;E9PEZ8	.;.	R	394;281	ENSP00000422131:S394R;ENSP00000410098:S281R	ENSP00000410098:S281R	S	-	1	0	FAM193B	176892145	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.982000	0.63825	1.994000	0.58287	0.383000	0.25322	AGC	FAM193B	-	NULL	ENSG00000146067		0.607	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	17	0.00	0	T	NM_019057		176959539	176959539	-1	no_errors	ENST00000443375	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	G
FAM208A	23272	genome.wustl.edu	37	3	56703802	56703802	+	Missense_Mutation	SNP	A	A	G	rs370143911		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:56703802A>G	ENST00000493960.2	-	5	671	c.661T>C	c.(661-663)Tat>Cat	p.Y221H	FAM208A_ENST00000355628.5_Missense_Mutation_p.Y221H	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	221							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAATCAGCATACCTAGAAAGA	0.303																																						dbGAP											0													66.0	60.0	62.0					3																	56703802		692	1591	2283	-	-	-	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.661T>C	3.37:g.56703802A>G	ENSP00000417509:p.Tyr221His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.Y221H	ENST00000493960.2	37	c.661	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153944	0.78114	.	.	ENSG00000163946	ENST00000493960;ENST00000355628	T;T	0.42513	0.97;0.97	5.51	5.51	0.81932	.	.	.	.	.	T	0.57213	0.2038	L	0.42581	1.335	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.57906	-0.7730	9	0.52906	T	0.07	-5.7639	15.32	0.74115	1.0:0.0:0.0:0.0	.	221;221	Q9UK61-3;Q9UK61-4	.;.	H	221	ENSP00000417509:Y221H;ENSP00000347845:Y221H	ENSP00000347845:Y221H	Y	-	1	0	C3orf63	56678842	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.014000	0.70784	2.088000	0.63022	0.533000	0.62120	TAT	FAM208A	-	pfam_DUF3715	ENSG00000163946		0.303	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	69	0.00	0	A	NM_015224		56703802	56703802	-1	no_errors	ENST00000355628	ensembl	human	known	69_37n	missense	39	44.29	31	SNP	1.000	G
FAM208B	54906	genome.wustl.edu	37	10	5772959	5772961	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:5772959_5772961delAAG	ENST00000328090.5	+	11	1622_1624	c.997_999delAAG	c.(997-999)aagdel	p.K334del	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	334																	GTTGAAAGCAAAGAAGAGAGTTT	0.419																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.997_999delAAG	10.37:g.5772962_5772964delAAG	ENSP00000328426:p.Lys334del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	In_Frame_Del	DEL	pfam_DUF3715,pfam_DUF3699	p.K334in_frame_del	ENST00000328090.5	37	c.997_999	CCDS41485.1	10																																																																																			FAM208B	-	NULL	ENSG00000108021		0.419	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	50	0.00	0	AAG	NM_017782		5772959	5772961	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	in_frame_del	110	14.73	19	DEL	0.000:0.001:0.000	-
FAM208B	54906	genome.wustl.edu	37	10	5788566	5788566	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:5788566A>G	ENST00000328090.5	+	15	3807	c.3182A>G	c.(3181-3183)cAt>cGt	p.H1061R	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1061																	AAAAATGCACATGTACCAATA	0.398																																						dbGAP											0													80.0	73.0	75.0					10																	5788566		1910	4137	6047	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3182A>G	10.37:g.5788566A>G	ENSP00000328426:p.His1061Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.H1061R	ENST00000328090.5	37	c.3182	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	A	2.607	-0.291573	0.05568	.	.	ENSG00000108021	ENST00000328090	T	0.17854	2.25	5.44	-1.92	0.07618	.	0.894418	0.09515	N	0.791718	T	0.12433	0.0302	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36939	-0.9727	10	0.23891	T	0.37	.	10.2722	0.43489	0.4821:0.0:0.5179:0.0	.	1061	Q5VWN6	F208B_HUMAN	R	1061	ENSP00000328426:H1061R	ENSP00000328426:H1061R	H	+	2	0	C10orf18	5828572	0.009000	0.17119	0.000000	0.03702	0.005000	0.04900	0.391000	0.20784	-0.219000	0.10003	0.528000	0.53228	CAT	FAM208B	-	pfam_DUF3699	ENSG00000108021		0.398	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	43	0.00	0	A	NM_017782		5788566	5788566	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	85	19.81	21	SNP	0.000	G
FAM47B	170062	genome.wustl.edu	37	X	34962381	34962381	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:34962381C>A	ENST00000329357.5	+	1	1469	c.1433C>A	c.(1432-1434)tCc>tAc	p.S478Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	478										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATGAAGAATCCATCAGCAGT	0.463																																						dbGAP											0													133.0	122.0	126.0					X																	34962381		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1433C>A	X.37:g.34962381C>A	ENSP00000328307:p.Ser478Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.S478Y	ENST00000329357.5	37	c.1433	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.569933	0.00133	.	.	ENSG00000189132	ENST00000329357	T	0.42900	0.96	0.235	-0.47	0.12131	.	.	.	.	.	T	0.45577	0.1349	M	0.72118	2.19	0.09310	N	1	P	0.51351	0.944	P	0.51135	0.66	T	0.34502	-0.9826	8	0.45353	T	0.12	.	.	.	.	.	478	Q8NA70	FA47B_HUMAN	Y	478	ENSP00000328307:S478Y	ENSP00000328307:S478Y	S	+	2	0	FAM47B	34872302	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	-0.656000	0.05342	-0.853000	0.04136	-0.857000	0.03018	TCC	FAM47B	-	NULL	ENSG00000189132		0.463	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	93	0.00	0	C	NM_152631		34962381	34962381	+1	no_errors	ENST00000329357	ensembl	human	known	69_37n	missense	148	17.68	32	SNP	0.003	A
FAM57B	83723	genome.wustl.edu	37	16	30041821	30041821	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:30041821delC	ENST00000380495.4	-	1	759	c.28delG	c.(28-30)gtgfs	p.V11fs	FAM57B_ENST00000564806.1_5'Flank|FAM57B_ENST00000279389.4_5'Flank|FAM57B_ENST00000567037.1_5'Flank	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	11					ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.V10fs*59(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GGGAACACCACCCCCCCGGCC	0.672																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)											15.0	18.0	17.0					16																	30041821		1875	4084	5959	-	-	-	SO:0001589	frameshift_variant	0			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.28delG	16.37:g.30041821delC	ENSP00000369863:p.Val11fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0J1	Frame_Shift_Del	DEL	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.V10fs	ENST00000380495.4	37	c.28	CCDS10667.2	16																																																																																			FAM57B	-	NULL	ENSG00000149926		0.672	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57B	HGNC	protein_coding	OTTHUMT00000255142.2	14	0.00	0	C	NM_031478		30041821	30041821	-1	no_errors	ENST00000380495	ensembl	human	known	69_37n	frame_shift_del	17	15.00	3	DEL	1.000	-
FAM63B	54629	genome.wustl.edu	37	15	59064339	59064339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:59064339C>T	ENST00000559228.1	+	1	827	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	FAM63B_ENST00000450403.2_Nonsense_Mutation_p.Q249*|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	249										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						CAAGTGGATCCAGTGGAAGGA	0.572																																						dbGAP											0													80.0	89.0	86.0					15																	59064339		2105	4230	6335	-	-	-	SO:0001587	stop_gained	0			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.745C>T	15.37:g.59064339C>T	ENSP00000452885:p.Gln249*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT8|Q9ULQ6	Nonsense_Mutation	SNP	pfam_DUF544	p.Q249*	ENST00000559228.1	37	c.745	CCDS42046.1	15	.	.	.	.	.	.	.	.	.	.	C	38	7.209619	0.98136	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	.	.	.	4.84	4.84	0.62591	.	0.056064	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8687	17.9721	0.89116	0.0:1.0:0.0:0.0	.	.	.	.	X	249	.	ENSP00000326194:Q249X	Q	+	1	0	FAM63B	56851631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.042000	0.70996	2.221000	0.72209	0.585000	0.79938	CAG	FAM63B	-	NULL	ENSG00000128923		0.572	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM63B	HGNC	protein_coding	OTTHUMT00000416230.1	96	0.00	0	C	NM_019092		59064339	59064339	+1	no_errors	ENST00000559228	ensembl	human	known	69_37n	nonsense	63	56.55	82	SNP	1.000	T
FAM65C	140876	genome.wustl.edu	37	20	49214207	49214207	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:49214207A>G	ENST00000327979.2	-	14	2099	c.1688T>C	c.(1687-1689)cTg>cCg	p.L563P	FAM65C_ENST00000535356.1_Missense_Mutation_p.L567P|FAM65C_ENST00000045083.2_Missense_Mutation_p.L563P			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	563										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTCCATCAGGCTCTCGGC	0.657																																						dbGAP											0													59.0	45.0	50.0					20																	49214207		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1688T>C	20.37:g.49214207A>G	ENSP00000332663:p.Leu563Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.L567P	ENST00000327979.2	37	c.1700	CCDS13431.2	20	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649428	0.47362	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.21932	1.98;1.98;1.98	4.74	4.74	0.60224	.	0.153387	0.44285	D	0.000467	T	0.46190	0.1380	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.49466	-0.8937	10	0.72032	D	0.01	-17.7417	13.5271	0.61601	1.0:0.0:0.0:0.0	.	567;563	F5H0X2;Q96MK2	.;FA65C_HUMAN	P	563;563;567	ENSP00000332663:L563P;ENSP00000045083:L563P;ENSP00000439802:L567P	ENSP00000045083:L563P	L	-	2	0	FAM65C	48647614	1.000000	0.71417	0.999000	0.59377	0.130000	0.20726	5.197000	0.65141	1.901000	0.55032	0.459000	0.35465	CTG	FAM65C	-	NULL	ENSG00000042062		0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	32	0.00	0	A			49214207	49214207	-1	no_errors	ENST00000535356	ensembl	human	known	69_37n	missense	10	38.89	7	SNP	1.000	G
TMEM255A	55026	genome.wustl.edu	37	X	119425191	119425191	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:119425191A>G	ENST00000309720.5	-	4	392	c.269T>C	c.(268-270)gTg>gCg	p.V90A	TMEM255A_ENST00000440464.1_Missense_Mutation_p.V90A|TMEM255A_ENST00000371369.4_Missense_Mutation_p.V90A	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	90						integral component of membrane (GO:0016021)											GATAGAAGCCACCAGCTGTAG	0.493																																						dbGAP											0													61.0	45.0	50.0					X																	119425191		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.269T>C	X.37:g.119425191A>G	ENSP00000310110:p.Val90Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	NULL	p.V90A	ENST00000309720.5	37	c.269	CCDS14597.1	X	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104979	0.77096	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.994;0.99;1.0	D;D;D	0.76071	0.954;0.971;0.987	T	0.70676	-0.4806	10	0.46703	T	0.11	-3.6924	12.0717	0.53620	1.0:0.0:0.0:0.0	.	90;90;90	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	A	90	ENSP00000310110:V90A;ENSP00000360420:V90A;ENSP00000405781:V90A;ENSP00000428013:V90A	ENSP00000310110:V90A	V	-	2	0	FAM70A	119309219	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.749000	0.74883	1.753000	0.51906	0.417000	0.27973	GTG	FAM70A	-	NULL	ENSG00000125355		0.493	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM70A	HGNC	protein_coding	OTTHUMT00000058091.1	70	0.00	0	A	NM_017938		119425191	119425191	-1	no_errors	ENST00000309720	ensembl	human	known	69_37n	missense	80	19.80	20	SNP	1.000	G
FAM91A1	157769	genome.wustl.edu	37	8	124812115	124812115	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:124812115T>C	ENST00000334705.7	+	18	2045	c.1799T>C	c.(1798-1800)gTt>gCt	p.V600A	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V600A	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	600										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)			CATTCTGCAGTTTTAATTCAG	0.308																																						dbGAP											0													104.0	88.0	93.0					8																	124812115		1812	4074	5886	-	-	-	SO:0001583	missense	0			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.1799T>C	8.37:g.124812115T>C	ENSP00000335082:p.Val600Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.V600A	ENST00000334705.7	37	c.1799	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684609	0.88639	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.42900	0.96;0.96	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	M	0.83118	2.625	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.73380	0.98;0.98	T	0.73254	-0.4041	10	0.87932	D	0	.	15.8003	0.78450	0.0:0.0:0.0:1.0	.	600;600	E7ER68;Q658Y4	.;F91A1_HUMAN	A	600	ENSP00000429491:V600A;ENSP00000335082:V600A	ENSP00000335082:V600A	V	+	2	0	FAM91A1	124881296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.938000	0.87678	2.192000	0.70111	0.528000	0.53228	GTT	FAM91A1	-	NULL	ENSG00000176853		0.308	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	114	0.00	0	T	NM_144963		124812115	124812115	+1	no_errors	ENST00000334705	ensembl	human	known	69_37n	missense	128	39.05	82	SNP	1.000	C
FAM98A	25940	genome.wustl.edu	37	2	33813419	33813419	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:33813419T>C	ENST00000238823.8	-	4	645	c.505A>G	c.(505-507)Agc>Ggc	p.S169G	FAM98A_ENST00000403368.1_Missense_Mutation_p.S169G|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	169							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)					TCAATCCCGCTGAAGAATTGG	0.358																																						dbGAP											0													172.0	173.0	173.0					2																	33813419		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.505A>G	2.37:g.33813419T>C	ENSP00000238823:p.Ser169Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.S169G	ENST00000238823.8	37	c.505	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	T	16.98	3.272342	0.59649	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.48522	0.81;0.81	5.45	5.45	0.79879	.	0.043915	0.85682	D	0.000000	T	0.60025	0.2237	M	0.70595	2.14	0.80722	D	1	D;D	0.55605	0.969;0.972	P;P	0.51945	0.683;0.685	T	0.64732	-0.6338	10	0.59425	D	0.04	-11.594	15.8083	0.78534	0.0:0.0:0.0:1.0	.	169;46	Q8NCA5-2;B3KTW4	.;.	G	169	ENSP00000238823:S169G;ENSP00000384711:S169G	ENSP00000238823:S169G	S	-	1	0	FAM98A	33666923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.149000	0.71795	2.188000	0.69820	0.460000	0.39030	AGC	FAM98A	-	pfam_Uncharacterised_FAM98	ENSG00000119812		0.358	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	160	0.00	0	T	NM_015475		33813419	33813419	-1	no_errors	ENST00000238823	ensembl	human	known	69_37n	missense	113	37.22	67	SNP	1.000	C
FANCD2	2177	genome.wustl.edu	37	3	10114941	10114941	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:10114941G>T	ENST00000419585.1	+	28	2771	c.2610G>T	c.(2608-2610)agG>agT	p.R870S	FANCD2_ENST00000287647.3_Missense_Mutation_p.R870S|FANCD2_ENST00000383806.1_Missense_Mutation_p.R870S|FANCD2_ENST00000383807.1_Missense_Mutation_p.R870S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	870					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)		TAAAAGAAAGGAAACAAAAAA	0.373			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													51.0	55.0	54.0					3																	10114941		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.2610G>T	3.37:g.10114941G>T	ENSP00000398754:p.Arg870Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R870S	ENST00000419585.1	37	c.2610	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	7.847	0.723122	0.15439	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.83	1.03	0.20045	.	0.547159	0.23286	N	0.049842	T	0.33673	0.0871	L	0.56769	1.78	0.22500	N	0.999043	P;P	0.40834	0.575;0.73	B;B	0.33620	0.167;0.167	T	0.16070	-1.0415	10	0.25751	T	0.34	.	6.4964	0.22144	0.5633:0.0:0.4367:0.0	.	870;870	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	S	870	ENSP00000287647:R870S;ENSP00000373318:R870S;ENSP00000373317:R870S;ENSP00000398754:R870S	ENSP00000287647:R870S	R	+	3	2	FANCD2	10089941	0.727000	0.28069	0.473000	0.27253	0.015000	0.08874	0.449000	0.21744	0.263000	0.21812	0.650000	0.86243	AGG	FANCD2	-	NULL	ENSG00000144554		0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	29	0.00	0	G			10114941	10114941	+1	no_errors	ENST00000287647	ensembl	human	known	69_37n	missense	31	36.73	18	SNP	0.556	T
FARSB	10056	genome.wustl.edu	37	2	223504404	223504404	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:223504404A>T	ENST00000281828.6	-	5	613	c.350T>A	c.(349-351)aTa>aAa	p.I117K	FARSB_ENST00000536361.1_Missense_Mutation_p.I18K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	117					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	AAAAGGACGTATCTTAGCTGT	0.348																																						dbGAP											0													91.0	88.0	89.0					2																	223504404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.350T>A	2.37:g.223504404A>T	ENSP00000281828:p.Ile117Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.I117K	ENST00000281828.6	37	c.350	CCDS2454.1	2	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570828	0.86542	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	6.08	4.9	0.64082	B3/B4 tRNA-binding domain (1);	0.378739	0.31279	N	0.007927	D	0.84320	0.5446	M	0.84948	2.725	0.58432	D	0.999995	B;B	0.34226	0.443;0.308	P;P	0.61592	0.891;0.814	D	0.84882	0.0831	9	0.87932	D	0	-2.5	13.3725	0.60721	0.8685:0.1315:0.0:0.0	.	117;117	A8K666;Q9NSD9	.;SYFB_HUMAN	K	117;18	.	ENSP00000281828:I117K	I	-	2	0	FARSB	223212648	1.000000	0.71417	0.785000	0.31869	0.862000	0.49288	6.972000	0.76110	1.087000	0.41251	0.533000	0.62120	ATA	FARSB	-	smart_B3/B4_tRNA-bd,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	ENSG00000116120		0.348	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	58	0.00	0	A	NM_005687		223504404	223504404	-1	no_errors	ENST00000281828	ensembl	human	known	69_37n	missense	83	10.75	10	SNP	0.999	T
FARP2	9855	genome.wustl.edu	37	2	242352812	242352812	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:242352812T>A	ENST00000264042.3	+	7	769	c.599T>A	c.(598-600)aTa>aAa	p.I200K	FARP2_ENST00000545004.1_Missense_Mutation_p.I200K|FARP2_ENST00000373287.4_Missense_Mutation_p.I200K	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTTGAGAAGATACTAGAATTC	0.453																																						dbGAP											0													103.0	78.0	87.0					2																	242352812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.599T>A	2.37:g.242352812T>A	ENSP00000264042:p.Ile200Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.I200K	ENST00000264042.3	37	c.599	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	T	16.38	3.105838	0.56291	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	D;D;D	0.83914	-1.78;-1.78;-1.78	5.34	4.19	0.49359	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.119572	0.56097	D	0.000038	D	0.93374	0.7887	H	0.97315	3.98	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.997	D;D;D	0.68353	0.921;0.952;0.957	D	0.93839	0.7135	10	0.87932	D	0	.	10.9202	0.47161	0.0:0.0732:0.0:0.9268	.	200;200;200	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	K	200	ENSP00000264042:I200K;ENSP00000443876:I200K;ENSP00000362384:I200K	ENSP00000264042:I200K	I	+	2	0	FARP2	242001485	1.000000	0.71417	0.031000	0.17742	0.198000	0.23893	5.579000	0.67457	0.886000	0.36113	0.528000	0.53228	ATA	FARP2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000006607		0.453	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	61	0.00	0	T			242352812	242352812	+1	no_errors	ENST00000264042	ensembl	human	known	69_37n	missense	53	29.33	22	SNP	0.994	A
FAT2	2196	genome.wustl.edu	37	5	150901548	150901548	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:150901548T>G	ENST00000261800.5	-	18	10618	c.10606A>C	c.(10606-10608)Atc>Ctc	p.I3536L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3536	Cadherin 32. {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)			GTGATGAAGATCTCCAGTGGG	0.577																																						dbGAP											0													74.0	68.0	70.0					5																	150901548		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.10606A>C	5.37:g.150901548T>G	ENSP00000261800:p.Ile3536Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I3536L	ENST00000261800.5	37	c.10606	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.66|15.66	2.899712|2.899712	0.52227|0.52227	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.37411	.|1.2	5.38|5.38	3.02|3.02	0.34903|0.34903	.|Cadherin (2);Cadherin-like (1);	.|0.090371	.|0.47455	.|D	.|0.000231	T|T	0.47563|0.47563	0.1452|0.1452	M|M	0.82823|0.82823	2.61|2.61	0.45899|0.45899	D|D	0.998743|0.998743	.|D;P	.|0.53312	.|0.959;0.894	.|P;B	.|0.49887	.|0.625;0.437	T|T	0.46816|0.46816	-0.9164|-0.9164	5|10	.|0.45353	.|T	.|0.12	.|.	9.5201|9.5201	0.39129|0.39129	0.0:0.1426:0.0:0.8574|0.0:0.1426:0.0:0.8574	.|.	.|3536;727	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	A|L	394|3536	.|ENSP00000261800:I3536L	.|ENSP00000261800:I3536L	D|I	-|-	2|1	0|0	FAT2|FAT2	150881741|150881741	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.414000|0.414000	0.31173|0.31173	1.686000|1.686000	0.37669|0.37669	0.453000|0.453000	0.26858|0.26858	0.460000|0.460000	0.39030|0.39030	GAT|ATC	FAT2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000086570		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	37	0.00	0	T	NM_001447		150901548	150901548	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	14	67.44	29	SNP	1.000	G
FAT3	120114	genome.wustl.edu	37	11	92531224	92531224	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:92531224A>G	ENST00000298047.6	+	9	5062	c.5045A>G	c.(5044-5046)gAa>gGa	p.E1682G	FAT3_ENST00000409404.2_Missense_Mutation_p.E1682G|FAT3_ENST00000525166.1_Missense_Mutation_p.E1532G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1682	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				GAAGTAAATGAAAATGTTGAC	0.413										TCGA Ovarian(4;0.039)																												dbGAP											0													106.0	107.0	106.0					11																	92531224		1955	4143	6098	-	-	-	SO:0001583	missense	0			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.5045A>G	11.37:g.92531224A>G	ENSP00000298047:p.Glu1682Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E1682G	ENST00000298047.6	37	c.5045		11	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679118	0.88542	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.76316	-1.01;-1.01;-1.01	5.76	5.76	0.90799	.	.	.	.	.	D	0.93864	0.8037	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96669	0.9495	9	0.87932	D	0	.	16.0817	0.81010	1.0:0.0:0.0:0.0	.	1682	Q8TDW7-3	.	G	1682;1682;1532	ENSP00000298047:E1682G;ENSP00000387040:E1682G;ENSP00000432586:E1532G	ENSP00000298047:E1682G	E	+	2	0	FAT3	92170872	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.262000	0.95591	2.206000	0.71126	0.383000	0.25322	GAA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.413	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		40	0.00	0	A	NM_001008781		92531224	92531224	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	57	21.92	16	SNP	1.000	G
FAT4	79633	genome.wustl.edu	37	4	126328238	126328238	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:126328238T>C	ENST00000394329.3	+	3	5524	c.5511T>C	c.(5509-5511)caT>caC	p.H1837H	FAT4_ENST00000335110.5_Silent_p.H135H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1837	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAATGACCATACACCCAAAT	0.443																																						dbGAP											0													146.0	139.0	141.0					4																	126328238		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5511T>C	4.37:g.126328238T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H1837	ENST00000394329.3	37	c.5511	CCDS3732.3	4																																																																																			FAT4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	53	0.00	0	T	NM_024582		126328238	126328238	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	silent	39	40.00	26	SNP	0.937	C
FBXO11	80204	genome.wustl.edu	37	2	48046193	48046193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:48046193C>A	ENST00000403359.3	-	15	1894	c.1822G>T	c.(1822-1824)Gaa>Taa	p.E608*	FBXO11_ENST00000434523.2_Nonsense_Mutation_p.E32*|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.E524*|FBXO11_ENST00000316377.4_Nonsense_Mutation_p.E524*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	608					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCATTCTCTTCTATTACTCCT	0.403			"""Mis, F, D"""		DLBCL																																	dbGAP		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											116.0	120.0	119.0					2																	48046193		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1822G>T	2.37:g.48046193C>A	ENSP00000384823:p.Glu608*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Nonsense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.E608*	ENST00000403359.3	37	c.1822	CCDS54357.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.400656|7.400656	0.98262|0.98262	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523|ENST00000493962	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77267	.|0.4105	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74047	.|-0.3790	.|4	0.87932|.	D|.	0|.	-5.8312|-5.8312	20.4777|20.4777	0.99188|0.99188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	524;608;524;32|399	.|.	ENSP00000323822:E524X|.	E|R	-|-	1|2	0|0	FBXO11|FBXO11	47899697|47899697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAA|AGA	FBXO11	-	superfamily_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2	ENSG00000138081		0.403	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	65	0.00	0	C	NM_012167, NM_018693, NM_025133		48046193	48046193	-1	no_errors	ENST00000403359	ensembl	human	known	69_37n	nonsense	84	11.58	11	SNP	1.000	A
FBXO24	26261	genome.wustl.edu	37	7	100184262	100184262	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:100184262C>T	ENST00000241071.6	+	1	336	c.14C>T	c.(13-15)gCg>gTg	p.A5V	FBXO24_ENST00000465843.1_Missense_Mutation_p.A5V|LRCH4_ENST00000310300.6_5'Flank|FBXO24_ENST00000360609.2_Missense_Mutation_p.A5V|FBXO24_ENST00000468962.1_5'Flank|LRCH4_ENST00000497245.1_5'Flank|FBXO24_ENST00000498195.1_Intron|FBXO24_ENST00000427939.2_5'Flank|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	5					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCGAGAAGGCGGTCCCTTTG	0.577																																						dbGAP											0													77.0	75.0	76.0					7																	100184262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.14C>T	7.37:g.100184262C>T	ENSP00000241071:p.Ala5Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.A5V	ENST00000241071.6	37	c.14	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	c	10.34	1.323952	0.24080	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843	T;T;T	0.43688	2.54;0.94;0.94	4.02	3.12	0.35913	.	0.556766	0.14951	N	0.288933	T	0.22003	0.0530	N	0.08118	0	0.23298	N	0.997957	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.15954	-1.0419	10	0.72032	D	0.01	.	6.9956	0.24780	0.0:0.8688:0.0:0.1312	.	5;5	O75426;O75426-2	FBX24_HUMAN;.	V	5	ENSP00000241071:A5V;ENSP00000353821:A5V;ENSP00000419602:A5V	ENSP00000241071:A5V	A	+	2	0	FBXO24	100022198	0.820000	0.29190	0.450000	0.26969	0.708000	0.40852	0.324000	0.19610	1.016000	0.39470	0.299000	0.19835	GCG	FBXO24	-	NULL	ENSG00000106336		0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	82	0.00	0	C			100184262	100184262	+1	no_errors	ENST00000241071	ensembl	human	known	69_37n	missense	110	18.52	25	SNP	0.773	T
FBXW7	55294	genome.wustl.edu	37	4	153271249	153271249	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:153271249C>T	ENST00000281708.4	-	3	1758	c.529G>A	c.(529-531)Gag>Aag	p.E177K	FBXW7_ENST00000393956.3_5'Flank|FBXW7_ENST00000296555.5_Missense_Mutation_p.E59K|FBXW7_ENST00000603548.1_Missense_Mutation_p.E177K|FBXW7_ENST00000603841.1_Missense_Mutation_p.E177K|FBXW7_ENST00000263981.5_Missense_Mutation_p.E97K	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	177					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAGCGGACCTCAGAACCATGG	0.308			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	dbGAP		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0													27.0	28.0	28.0					4																	153271249		2195	4281	6476	-	-	-	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.529G>A	4.37:g.153271249C>T	ENSP00000281708:p.Glu177Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E177K	ENST00000281708.4	37	c.529	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345965	0.82022	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981	T;T;T	0.58652	0.32;0.46;0.37	6.17	6.17	0.99709	.	0.099013	0.64402	D	0.000002	T	0.39784	0.1091	N	0.08118	0	0.80722	D	1	B;B;B	0.29301	0.048;0.017;0.241	B;B;B	0.20767	0.021;0.023;0.031	T	0.22347	-1.0219	10	0.23302	T	0.38	-22.7436	20.8794	0.99867	0.0:1.0:0.0:0.0	.	177;59;97	Q969H0;Q969H0-4;Q969H0-2	FBXW7_HUMAN;.;.	K	177;59;97	ENSP00000281708:E177K;ENSP00000296555:E59K;ENSP00000263981:E97K	ENSP00000263981:E97K	E	-	1	0	FBXW7	153490699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	GAG	FBXW7	-	NULL	ENSG00000109670		0.308	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	56	0.00	0	C			153271249	153271249	-1	no_errors	ENST00000281708	ensembl	human	known	69_37n	missense	42	38.24	26	SNP	1.000	T
FGD3	89846	genome.wustl.edu	37	9	95773518	95773518	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:95773518A>G	ENST00000375482.3	+	8	1495	c.999A>G	c.(997-999)acA>acG	p.T333T	FGD3_ENST00000337352.6_Silent_p.T333T|FGD3_ENST00000416701.2_Silent_p.T333T	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	333	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						TCATCTCCACAGCCGCCAACC	0.637																																						dbGAP											0													64.0	77.0	72.0					9																	95773518		2108	4252	6360	-	-	-	SO:0001819	synonymous_variant	0			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.999A>G	9.37:g.95773518A>G		Somatic		WXS	Illumina GAIIx	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.T333	ENST00000375482.3	37	c.999	CCDS43849.1	9																																																																																			FGD3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000127084		0.637	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	60	0.00	0	A	NM_033086		95773518	95773518	+1	no_errors	ENST00000337352	ensembl	human	known	69_37n	silent	24	17.24	5	SNP	0.992	G
FGD5	152273	genome.wustl.edu	37	3	14862849	14862849	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:14862849A>G	ENST00000285046.5	+	1	2381	c.2271A>G	c.(2269-2271)ccA>ccG	p.P757P	FGD5_ENST00000543601.1_Silent_p.P516P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	757					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGCCCTTGCCACTGACCAAGC	0.547																																						dbGAP											0													151.0	161.0	158.0					3																	14862849		2036	4187	6223	-	-	-	SO:0001819	synonymous_variant	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2271A>G	3.37:g.14862849A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.P757	ENST00000285046.5	37	c.2271	CCDS46767.1	3																																																																																			FGD5	-	NULL	ENSG00000154783		0.547	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	56	0.00	0	A	NM_152536		14862849	14862849	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	silent	29	65.06	54	SNP	0.732	G
FGD6	55785	genome.wustl.edu	37	12	95478281	95478281	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:95478281C>T	ENST00000343958.4	-	20	4472	c.4249G>A	c.(4249-4251)Gct>Act	p.A1417T		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1417	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TACTTCTGAGCCGAATGAGCA	0.328																																						dbGAP											0													92.0	100.0	97.0					12																	95478281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.4249G>A	12.37:g.95478281C>T	ENSP00000344446:p.Ala1417Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A1417T	ENST00000343958.4	37	c.4249	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714591	0.30413	.	.	ENSG00000180263	ENST00000343958	T	0.13778	2.56	5.24	4.34	0.51931	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.145286	0.31976	N	0.006763	T	0.10035	0.0246	L	0.35341	1.055	0.80722	D	1	B	0.33637	0.42	B	0.32465	0.146	T	0.19549	-1.0302	10	0.34782	T	0.22	-8.9335	7.9329	0.29912	0.0:0.7506:0.0:0.2494	.	1417	Q6ZV73	FGD6_HUMAN	T	1417	ENSP00000344446:A1417T	ENSP00000344446:A1417T	A	-	1	0	FGD6	94002412	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	3.126000	0.50477	1.177000	0.42855	0.491000	0.48974	GCT	FGD6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000180263		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	74	0.00	0	C	NM_018351		95478281	95478281	-1	no_errors	ENST00000343958	ensembl	human	known	69_37n	missense	58	39.58	38	SNP	1.000	T
FGFR1	2260	genome.wustl.edu	37	8	38287248	38287248	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:38287248T>G	ENST00000447712.2	-	3	1251	c.310A>C	c.(310-312)Agc>Cgc	p.S104R	FGFR1_ENST00000425967.3_Missense_Mutation_p.S137R|FGFR1_ENST00000532791.1_Missense_Mutation_p.S104R|FGFR1_ENST00000397108.4_Missense_Mutation_p.S104R|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000335922.5_Missense_Mutation_p.S96R|FGFR1_ENST00000397091.5_Missense_Mutation_p.S104R|FGFR1_ENST00000397113.2_Missense_Mutation_p.S104R|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000341462.5_Missense_Mutation_p.S104R	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	104	Ig-like C2-type 1.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAGGGGCTGCTGGTTACGCAA	0.647		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	dbGAP		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													69.0	57.0	61.0					8																	38287248		2201	4298	6499	-	-	-	SO:0001583	missense	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.310A>C	8.37:g.38287248T>G	ENSP00000400162:p.Ser104Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	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.S137R	ENST00000447712.2	37	c.409	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	T	4.654	0.121602	0.08881	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000335922;ENST00000397108;ENST00000326296;ENST00000525001;ENST00000413133	T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;3.52	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.320175	0.33515	N	0.004822	T	0.52208	0.1720	L	0.31578	0.945	0.33106	D	0.539904	B;B;B;B;B	0.27853	0.032;0.02;0.04;0.191;0.032	B;B;B;B;B	0.26614	0.022;0.015;0.038;0.071;0.022	T	0.56013	-0.8049	10	0.07990	T	0.79	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	104;137;104;96;104	P11362-7;P11362-21;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	R	104;137;104;104;104;104;104;96;104;104;104;104	ENSP00000380280:S104R;ENSP00000393312:S137R;ENSP00000400162:S104R;ENSP00000340636:S104R;ENSP00000432972:S104R;ENSP00000380302:S104R;ENSP00000337247:S96R;ENSP00000380297:S104R;ENSP00000434712:S104R;ENSP00000400708:S104R	ENSP00000311337:S104R	S	-	1	0	FGFR1	38406405	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	3.929000	0.56514	2.046000	0.60703	0.379000	0.24179	AGC	FGFR1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like	ENSG00000077782		0.647	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		53	0.00	0	T			38287248	38287248	-1	no_errors	ENST00000425967	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	1.000	G
FGG	2266	genome.wustl.edu	37	4	155533355	155533355	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:155533355T>C	ENST00000336098.3	-	3	162		c.e3-2		FGG_ENST00000404648.3_Splice_Site|FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|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)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATAACTACCCTGAAAATATAA	0.318																																						dbGAP											0													58.0	53.0	54.0					4																	155533355		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.124-2A>G	4.37:g.155533355T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Splice_Site	SNP	-	e3-2	ENST00000336098.3	37	c.124-2	CCDS3788.1	4	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981436	0.53827	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FGG	155752805	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	6.808000	0.75206	2.317000	0.78254	0.459000	0.35465	.	FGG	-	-	ENSG00000171557		0.318	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	143	0.69	1	T	NM_021870	Intron	155533355	155533355	-1	no_errors	ENST00000336098	ensembl	human	known	69_37n	splice_site	101	34.84	54	SNP	1.000	C
FHL3	2275	genome.wustl.edu	37	1	38463128	38463128	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:38463128T>C	ENST00000373016.3	-	6	960	c.792A>G	c.(790-792)gtA>gtG	p.V264V	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	264	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCATCCGGTACGAAGCCCT	0.632																																						dbGAP											0													76.0	79.0	78.0					1																	38463128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.792A>G	1.37:g.38463128T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.V264	ENST00000373016.3	37	c.792	CCDS30678.1	1																																																																																			FHL3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000183386		0.632	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL3	HGNC	protein_coding	OTTHUMT00000012958.1	60	0.00	0	T	NM_004468		38463128	38463128	-1	no_errors	ENST00000373016	ensembl	human	known	69_37n	silent	65	26.67	24	SNP	0.993	C
FIG4	9896	genome.wustl.edu	37	6	110113866	110113866	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:110113866A>G	ENST00000230124.3	+	21	2582	c.2458A>G	c.(2458-2460)Aga>Gga	p.R820G	FIG4_ENST00000441478.2_Splice_Site_p.R543G	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	820					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)		CATTTATTCAAGGTGAGATAC	0.299																																						dbGAP											0													56.0	55.0	55.0					6																	110113866		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			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.2459+1A>G	6.37:g.110113866A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53H49|Q5TCS6	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.R820G	ENST00000230124.3	37	c.2458	CCDS5078.1	6	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094506	0.56075	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.58940	1.91;0.3	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	L	0.29908	0.895	0.33984	D	0.648286	D;D	0.61080	0.989;0.967	D;P	0.75020	0.985;0.703	T	0.64816	-0.6318	10	0.72032	D	0.01	-19.6735	14.5644	0.68165	1.0:0.0:0.0:0.0	.	543;820	F5H8L9;Q92562	.;FIG4_HUMAN	G	543;820	ENSP00000399443:R543G;ENSP00000230124:R820G	ENSP00000230124:R820G	R	+	1	2	FIG4	110220559	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	6.023000	0.70848	1.866000	0.54105	0.260000	0.18958	AGA	FIG4	-	NULL	ENSG00000112367		0.299	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	62	0.00	0	A	NM_014845	Missense_Mutation	110113866	110113866	+1	no_errors	ENST00000230124	ensembl	human	known	69_37n	missense	66	37.74	40	SNP	1.000	G
FKBP2	2286	genome.wustl.edu	37	11	64009989	64009989	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:64009989A>G	ENST00000394540.3	+	2	600	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	FKBP2_ENST00000309366.4_Missense_Mutation_p.I44V|FKBP2_ENST00000449942.2_Missense_Mutation_p.I44V	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	44					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						CCACTGTCCCATCAAATCGCG	0.632																																						dbGAP											0													83.0	82.0	82.0					11																	64009989		2201	4297	6498	-	-	-	SO:0001583	missense	0			M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.130A>G	11.37:g.64009989A>G	ENSP00000378046:p.Ile44Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BJH9|Q9BTS7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	p.I44V	ENST00000394540.3	37	c.130	CCDS8063.1	11	.	.	.	.	.	.	.	.	.	.	A	3.279	-0.147381	0.06627	.	.	ENSG00000173486	ENST00000309366;ENST00000449942;ENST00000535135;ENST00000394540	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	3.97	2.74	0.32292	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.145728	0.42053	D	0.000772	T	0.67608	0.2911	N	0.17674	0.51	0.32521	N	0.536204	B	0.06786	0.001	B	0.09377	0.004	T	0.59402	-0.7461	10	0.10636	T	0.68	-9.9673	5.1255	0.14882	0.7135:0.1838:0.1027:0.0	.	44	P26885	FKBP2_HUMAN	V	44	ENSP00000310935:I44V;ENSP00000398147:I44V;ENSP00000438749:I44V;ENSP00000378046:I44V	ENSP00000310935:I44V	I	+	1	0	FKBP2	63766565	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.489000	0.35562	1.802000	0.52723	0.374000	0.22700	ATC	FKBP2	-	pfam_PPIase_FKBP_dom	ENSG00000173486		0.632	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP2	HGNC	protein_coding	OTTHUMT00000396401.2	42	0.00	0	A	NM_004470		64009989	64009989	+1	no_errors	ENST00000309366	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	G
FKBP2	2286	genome.wustl.edu	37	11	64010937	64010937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:64010937delA	ENST00000394540.3	+	4	769	c.299delA	c.(298-300)gaafs	p.E100fs	FKBP2_ENST00000309366.4_Frame_Shift_Del_p.E100fs|RP11-783K16.5_ENST00000544553.1_RNA|FKBP2_ENST00000449942.2_Frame_Shift_Del_p.E100fs	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	100	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						TGTGAGGGGGAAAAGCGCAAG	0.597																																						dbGAP											0													125.0	118.0	121.0					11																	64010937		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.299delA	11.37:g.64010937delA	ENSP00000378046:p.Glu100fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BJH9|Q9BTS7	Frame_Shift_Del	DEL	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	p.K101fs	ENST00000394540.3	37	c.299	CCDS8063.1	11																																																																																			FKBP2	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000173486		0.597	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP2	HGNC	protein_coding	OTTHUMT00000396401.2	48	0.00	0	A	NM_004470		64010937	64010937	+1	no_errors	ENST00000309366	ensembl	human	known	69_37n	frame_shift_del	51	20.59	14	DEL	1.000	-
FKBPL	63943	genome.wustl.edu	37	6	32097316	32097316	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:32097316T>A	ENST00000375156.3	-	2	512	c.242A>T	c.(241-243)cAt>cTt	p.H81L	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	81					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										GGTTGATCCATGAGACTTATG	0.502																																						dbGAP											0													94.0	93.0	93.0					6																	32097316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.242A>T	6.37:g.32097316T>A	ENSP00000364298:p.His81Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H81L	ENST00000375156.3	37	c.242	CCDS4738.1	6	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523144	0.44866	.	.	ENSG00000204315	ENST00000375156	T	0.80738	-1.41	5.09	-0.369	0.12534	.	1.362050	0.04894	N	0.450125	T	0.45418	0.1341	L	0.27053	0.805	0.09310	N	1	B	0.19583	0.037	B	0.14578	0.011	T	0.20438	-1.0275	10	0.26408	T	0.33	-0.0072	4.7954	0.13270	0.0:0.1775:0.3314:0.4911	.	81	Q9UIM3	FKBPL_HUMAN	L	81	ENSP00000364298:H81L	ENSP00000364298:H81L	H	-	2	0	FKBPL	32205294	0.000000	0.05858	0.036000	0.18154	0.985000	0.73830	-0.268000	0.08607	0.050000	0.15949	0.379000	0.24179	CAT	FKBPL	-	NULL	ENSG00000204315		0.502	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	108	0.00	0	T			32097316	32097316	-1	no_errors	ENST00000375156	ensembl	human	known	69_37n	missense	173	10.82	21	SNP	0.019	A
AC034110.1	0	genome.wustl.edu	37	18	74402396	74402396	+	lincRNA	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:74402396C>T	ENST00000415242.1	+	0	411																											ACATGAACAACGCAAACGGAA	0.488																																						dbGAP											0													262.0	226.0	237.0					18																	74402396		692	1591	2283	-	-	-			0																															18.37:g.74402396C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000415242.1	37	NULL		18																																																																																			AC034110.1	-	-	ENSG00000229055		0.488	AC034110.1-001	KNOWN	basic	lincRNA	FLJ44881	Clone_based_vega_gene	lincRNA	OTTHUMT00000256334.3	125	0.00	0	C			74402396	74402396	+1	no_errors	ENST00000415242	ensembl	human	known	69_37n	rna	115	29.45	48	SNP	0.000	T
FNDC7	163479	genome.wustl.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs|RP11-293A10.3_ENST00000437400.2_RNA	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											65.0	66.0	66.0					1																	109276138		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I712fs	ENST00000370017.3	37	c.2127	CCDS44185.1	1																																																																																			FNDC7	-	superfamily_Fibronectin_type3	ENSG00000143107		0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	40	0.00	0	A	NM_173532		109276138	109276138	+1	no_errors	ENST00000271311	ensembl	human	known	69_37n	frame_shift_del	65	19.75	16	DEL	0.757	-
FOLR4	390243	genome.wustl.edu	37	11	94038942	94038942	+	Splice_Site	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:94038942T>A	ENST00000440961.2	+	1	182		c.e1+2			NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)						cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TATGAGGAGGTACAGAGGCCA	0.547																																						dbGAP											0													43.0	46.0	45.0					11																	94038942		2024	4194	6218	-	-	-	SO:0001630	splice_region_variant	0					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.138+2T>A	11.37:g.94038942T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e1+2	ENST00000440961.2	37	c.138+2		11	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154559	0.38021	.	.	ENSG00000183560	ENST00000440961;ENST00000328458	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3076	0.49345	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOLR4	93678590	1.000000	0.71417	0.837000	0.33122	0.014000	0.08584	3.956000	0.56722	1.847000	0.53656	0.379000	0.24179	.	FOLR4	-	-	ENSG00000183560		0.547	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FOLR4	HGNC	protein_coding	OTTHUMT00000396420.1	38	0.00	0	T	NM_001080486	Intron	94038942	94038942	+1	no_errors	ENST00000440961	ensembl	human	novel	69_37n	splice_site	44	40.54	30	SNP	0.997	A
FOXM1	2305	genome.wustl.edu	37	12	2983284	2983284	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:2983284G>T	ENST00000359843.3	-	2	429	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	FOXM1_ENST00000361953.3_Missense_Mutation_p.L121I|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000342628.2_Missense_Mutation_p.L121I	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	121					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGAGGCCGGAGTCCTGGAGGC	0.542																																						dbGAP											0													172.0	161.0	164.0					12																	2983284		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.361C>A	12.37:g.2983284G>T	ENSP00000352901:p.Leu121Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L121I	ENST00000359843.3	37	c.361	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	6.352	0.433070	0.12045	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92911	-3.03;-3.13;-3.05	4.8	0.408	0.16377	.	1.316900	0.04733	N	0.421372	D	0.84056	0.5388	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.28082	0.045;0.009;0.123;0.009;0.2	B;B;B;B;B	0.30572	0.035;0.005;0.076;0.005;0.117	T	0.71269	-0.4643	10	0.11794	T	0.64	.	4.2763	0.10811	0.3779:0.0:0.4649:0.1572	.	121;121;121;121;121	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	I	121	ENSP00000342307:L121I;ENSP00000354492:L121I;ENSP00000352901:L121I	ENSP00000342307:L121I	L	-	1	0	FOXM1	2853545	0.001000	0.12720	0.020000	0.16555	0.839000	0.47603	0.447000	0.21710	0.183000	0.20059	0.655000	0.94253	CTC	FOXM1	-	NULL	ENSG00000111206		0.542	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	253	0.00	0	G	NM_021953		2983284	2983284	-1	no_errors	ENST00000342628	ensembl	human	known	69_37n	missense	252	29.41	105	SNP	0.001	T
FRMD5	84978	genome.wustl.edu	37	15	44211718	44211718	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:44211718T>C	ENST00000417257.1	-	4	444	c.268A>G	c.(268-270)Atg>Gtg	p.M90V	FRMD5_ENST00000484674.1_Start_Codon_SNP_p.M1V|FRMD5_ENST00000402883.1_Missense_Mutation_p.M90V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	90	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CGGAAGCACATGGTGAATGGA	0.522																																						dbGAP											0													141.0	143.0	142.0					15																	44211718		2198	4298	6496	-	-	-	SO:0001583	missense	0			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.268A>G	15.37:g.44211718T>C	ENSP00000403067:p.Met90Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBG4	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.M90V	ENST00000417257.1	37	c.268	CCDS10107.2	15	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586601	0.86851	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.87491	-2.26;-2.26;-2.26	6.17	6.17	0.99709	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	L	0.36672	1.1	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.76071	0.987;0.987	D	0.91257	0.5034	10	0.72032	D	0.01	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	90;90	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	V	90;90;56	ENSP00000403067:M90V;ENSP00000384142:M90V;ENSP00000399684:M56V	ENSP00000384142:M90V	M	-	1	0	FRMD5	41999010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.941000	0.87700	2.371000	0.80710	0.533000	0.62120	ATG	FRMD5	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin	ENSG00000171877		0.522	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	69	0.00	0	T	NM_032892		44211718	44211718	-1	no_errors	ENST00000417257	ensembl	human	known	69_37n	missense	73	19.78	18	SNP	1.000	C
FRYL	285527	genome.wustl.edu	37	4	48604083	48604083	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:48604083delA	ENST00000503238.1	-	10	988	c.989delT	c.(988-990)ttafs	p.L330fs	FRYL_ENST00000506685.1_Frame_Shift_Del_p.L36fs|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Frame_Shift_Del_p.L330fs|FRYL_ENST00000507711.1_Frame_Shift_Del_p.L330fs|FRYL_ENST00000358350.4_Frame_Shift_Del_p.L330fs			O94915	FRYL_HUMAN	FRY-like	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.L330fs*3(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCAGTTATTTAAAAAAAATTG	0.308																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)											55.0	55.0	55.0					4																	48604083		1793	4051	5844	-	-	-	SO:0001589	frameshift_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.989delT	4.37:g.48604083delA	ENSP00000426064:p.Leu330fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O95640|Q8WTZ5|Q9NT40	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.L330fs	ENST00000503238.1	37	c.989	CCDS43227.1	4																																																																																			FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.308	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	49	0.00	0	A			48604083	48604083	-1	no_errors	ENST00000358350	ensembl	human	known	69_37n	frame_shift_del	47	27.54	19	DEL	1.000	-
FSIP1	161835	genome.wustl.edu	37	15	40057882	40057882	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:40057882C>G	ENST00000350221.3	-	4	585	c.376G>C	c.(376-378)Gat>Cat	p.D126H		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	126										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AATATTTTATCAAGTTTTTTC	0.289																																						dbGAP											0													97.0	97.0	97.0					15																	40057882		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.376G>C	15.37:g.40057882C>G	ENSP00000280236:p.Asp126His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X2C8|Q86Y89	Missense_Mutation	SNP	NULL	p.D126H	ENST00000350221.3	37	c.376	CCDS10050.1	15	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862798	0.71949	.	.	ENSG00000150667	ENST00000350221	T	0.71817	-0.6	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000005	D	0.84211	0.5422	M	0.77103	2.36	0.46678	D	0.999155	D	0.89917	1.0	D	0.97110	1.0	D	0.84281	0.0494	9	.	.	.	-21.8237	16.6566	0.85230	0.0:1.0:0.0:0.0	.	126	Q8NA03	FSIP1_HUMAN	H	126	ENSP00000280236:D126H	.	D	-	1	0	FSIP1	37845174	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.054000	0.64275	2.665000	0.90641	0.561000	0.74099	GAT	FSIP1	-	NULL	ENSG00000150667		0.289	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSIP1	HGNC	protein_coding	OTTHUMT00000252118.2	188	0.00	0	C	NM_152597		40057882	40057882	-1	no_errors	ENST00000350221	ensembl	human	known	69_37n	missense	175	13.37	27	SNP	1.000	G
DDX42	11325	genome.wustl.edu	37	17	61899365	61899365	+	IGR	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:61899365T>C	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.Q485R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCTTAGACCCTGATGTCCCCT	0.537																																						dbGAP											0													142.0	114.0	123.0					17																	61899365		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899365T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.Q485R	ENST00000578681.1	37	c.1454	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	T	8.240	0.806573	0.16467	.	.	ENSG00000108592	ENST00000427159	T	0.29397	1.57	5.21	-9.92	0.00455	.	1.050670	0.07452	N	0.899199	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35549	-0.9784	10	0.35671	T	0.21	0.8394	13.7401	0.62842	0.0:0.1925:0.649:0.1584	.	485	Q8IY81	RRMJ3_HUMAN	R	485	ENSP00000396673:Q485R	ENSP00000396673:Q485R	Q	-	2	0	FTSJ3	59253097	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.297000	0.02759	-1.936000	0.01048	-1.284000	0.01376	CAG	FTSJ3	-	NULL	ENSG00000108592		0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1	43	0.00	0	T	NM_007372		61899365	61899365	-1	no_errors	ENST00000427159	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.000	C
FZD1	8321	genome.wustl.edu	37	7	90895054	90895054	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:90895054A>C	ENST00000287934.2	+	1	1272	c.859A>C	c.(859-861)Aac>Cac	p.N287H		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	287					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTCCTACCTCAACTACCACTT	0.701																																						dbGAP											0													27.0	24.0	25.0					7																	90895054		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.859A>C	7.37:g.90895054A>C	ENSP00000287934:p.Asn287His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.N287H	ENST00000287934.2	37	c.859	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	A	10.28	1.306117	0.23736	.	.	ENSG00000157240	ENST00000287934	T	0.77489	-1.1	4.63	4.63	0.57726	.	0.069352	0.53938	D	0.000041	T	0.68833	0.3044	L	0.38175	1.15	0.42190	D	0.991729	B	0.14438	0.01	B	0.17098	0.017	T	0.65034	-0.6266	10	0.31617	T	0.26	.	13.8473	0.63474	1.0:0.0:0.0:0.0	.	287	Q9UP38	FZD1_HUMAN	H	287	ENSP00000287934:N287H	ENSP00000287934:N287H	N	+	1	0	FZD1	90732990	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.769000	0.47654	1.940000	0.56252	0.418000	0.28097	AAC	FZD1	-	NULL	ENSG00000157240		0.701	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2	21	0.00	0	A	NM_003505		90895054	90895054	+1	no_errors	ENST00000287934	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	C
GALNTL5	168391	genome.wustl.edu	37	7	151664478	151664478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:151664478delA	ENST00000392800.2	+	2	401	c.147delA	c.(145-147)ggafs	p.G49fs	GALNTL5_ENST00000431418.2_Frame_Shift_Del_p.G49fs	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	49					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGTCCCCTGGAAAAAAAGTGC	0.413																																						dbGAP											0													62.0	64.0	63.0					7																	151664478		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.147delA	7.37:g.151664478delA	ENSP00000376548:p.Gly49fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Frame_Shift_Del	DEL	pfam_Glyco_trans_2	p.V52fs	ENST00000392800.2	37	c.147	CCDS5929.1	7																																																																																			GALNTL5	-	NULL	ENSG00000106648		0.413	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	64	0.00	0	A	NM_145292		151664478	151664478	+1	no_errors	ENST00000392800	ensembl	human	known	69_37n	frame_shift_del	49	40.00	34	DEL	0.000	-
GBA2	57704	genome.wustl.edu	37	9	35737755	35737755	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:35737755A>G	ENST00000378103.3	-	16	3018	c.2495T>C	c.(2494-2496)aTg>aCg	p.M832T	GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000545786.1_Missense_Mutation_p.M838T|GBA2_ENST00000378088.1_Missense_Mutation_p.M133T|GBA2_ENST00000378094.4_Missense_Mutation_p.M832T	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	832					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTTGGATCATGGTAGCTGC	0.517																																						dbGAP											0													129.0	113.0	118.0					9																	35737755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2495T>C	9.37:g.35737755A>G	ENSP00000367343:p.Met832Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.M838T	ENST00000378103.3	37	c.2513	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339557	0.60963	.	.	ENSG00000070610	ENST00000378103;ENST00000378088;ENST00000378094;ENST00000545786	.	.	.	5.67	5.67	0.87782	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.85130	0.99;0.997;0.99;0.994	D	0.87726	0.2576	9	0.87932	D	0	-24.6589	15.9043	0.79412	1.0:0.0:0.0:0.0	.	838;832;660;832	F5H7P6;Q9HCG7-2;B4DMF0;Q9HCG7	.;.;.;GBA2_HUMAN	T	832;133;832;838	.	ENSP00000367328:M133T	M	-	2	0	GBA2	35727755	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.178000	0.94855	2.169000	0.68431	0.459000	0.35465	ATG	GBA2	-	pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	ENSG00000070610		0.517	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	97	0.00	0	A	NM_020944		35737755	35737755	-1	no_errors	ENST00000545786	ensembl	human	known	69_37n	missense	111	10.48	13	SNP	1.000	G
GCC2	9648	genome.wustl.edu	37	2	109087914	109087914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:109087914delT	ENST00000309863.6	+	6	2843	c.2129delT	c.(2128-2130)gttfs	p.V710fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	710					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GATTTGGAGGTTTTTTTGTCT	0.299																																						dbGAP											0													118.0	149.0	138.0					2																	109087914		2199	4294	6493	-	-	-	SO:0001589	frameshift_variant	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2129delT	2.37:g.109087914delT	ENSP00000307939:p.Val710fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.L712fs	ENST00000309863.6	37	c.2129	CCDS33268.1	2																																																																																			GCC2	-	NULL	ENSG00000135968		0.299	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	44	0.00	0	T	NM_014635		109087914	109087914	+1	no_errors	ENST00000309863	ensembl	human	known	69_37n	frame_shift_del	42	21.82	12	DEL	0.000	-
GDF9	2661	genome.wustl.edu	37	5	132198070	132198070	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:132198070T>A	ENST00000378673.2	-	3	1442	c.576A>T	c.(574-576)agA>agT	p.R192S	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.R192S			O60383	GDF9_HUMAN	growth differentiation factor 9	192					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTATGGAGCTCTGCCGAGAG	0.403																																						dbGAP											0													118.0	119.0	119.0					5																	132198070		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.576A>T	5.37:g.132198070T>A	ENSP00000367942:p.Arg192Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.R192S	ENST00000378673.2	37	c.576	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	T	5.646	0.303762	0.10678	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.79749	-1.3;-1.3	5.94	-0.345	0.12624	.	0.703847	0.15379	N	0.265422	T	0.60209	0.2251	L	0.41573	1.285	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.42599	-0.9442	10	0.02654	T	1	.	0.6948	0.00897	0.3216:0.2697:0.1137:0.2949	.	192	O60383	GDF9_HUMAN	S	192	ENSP00000367942:R192S;ENSP00000296875:R192S	ENSP00000296875:R192S	R	-	3	2	GDF9	132225969	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.602000	0.05680	0.148000	0.19059	0.529000	0.55759	AGA	GDF9	-	NULL	ENSG00000164404		0.403	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	58	0.00	0	T	NM_005260		132198070	132198070	-1	no_errors	ENST00000296875	ensembl	human	known	69_37n	missense	61	46.49	53	SNP	0.000	A
GDF9	2661	genome.wustl.edu	37	5	132199940	132199940	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:132199940A>G	ENST00000378673.2	-	2	1152	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	UQCRQ_ENST00000378667.1_5'Flank|GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.Y96H|UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378665.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	96					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGTAGCATATGTCTTATAG	0.512																																						dbGAP											0													115.0	127.0	123.0					5																	132199940		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.286T>C	5.37:g.132199940A>G	ENSP00000367942:p.Tyr96His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.Y96H	ENST00000378673.2	37	c.286	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	A	16.56	3.157555	0.57368	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.60299	0.2;0.2	5.58	5.58	0.84498	.	0.485089	0.21702	N	0.070418	T	0.73682	0.3618	M	0.83118	2.625	0.09310	N	0.999995	D	0.62365	0.991	P	0.60286	0.872	T	0.68032	-0.5516	10	0.20519	T	0.43	.	15.7033	0.77558	1.0:0.0:0.0:0.0	.	96	O60383	GDF9_HUMAN	H	96	ENSP00000367942:Y96H;ENSP00000296875:Y96H	ENSP00000296875:Y96H	Y	-	1	0	GDF9	132227839	0.924000	0.31332	0.102000	0.21198	0.446000	0.32137	7.314000	0.78988	2.242000	0.73789	0.533000	0.62120	TAT	GDF9	-	NULL	ENSG00000164404		0.512	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	87	0.00	0	A	NM_005260		132199940	132199940	-1	no_errors	ENST00000296875	ensembl	human	known	69_37n	missense	59	44.34	47	SNP	0.265	G
GDPD2	54857	genome.wustl.edu	37	X	69650967	69650967	+	Intron	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:69650967A>G	ENST00000374382.3	+	12	1558				GDPD2_ENST00000472623.1_Intron|GDPD2_ENST00000536730.1_Intron|GDPD2_ENST00000453994.2_Missense_Mutation_p.H484R|GDPD2_ENST00000538649.1_Intron	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2						glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GAGCTATCTCACCTAGCTATG	0.502																																						dbGAP											0													156.0	121.0	131.0					X																	69650967		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1307+1054A>G	X.37:g.69650967A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.H484R	ENST00000374382.3	37	c.1451	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	A	2.219	-0.378896	0.05000	.	.	ENSG00000130055	ENST00000453994	T	0.10382	2.88	0.597	0.597	0.17504	.	.	.	.	.	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.43097	-0.9412	6	.	.	.	.	.	.	.	.	484	B4DVC9	.	R	484	ENSP00000414019:H484R	.	H	+	2	0	GDPD2	69567692	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.024000	0.12435	0.433000	0.26313	0.242000	0.17961	CAC	GDPD2	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000130055		0.502	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	HGNC	protein_coding	OTTHUMT00000057070.1	90	0.00	0	A	NM_017711		69650967	69650967	+1	no_errors	ENST00000453994	ensembl	human	known	69_37n	missense	88	20.00	22	SNP	0.003	G
GDPD5	81544	genome.wustl.edu	37	11	75153568	75153568	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:75153568T>C	ENST00000336898.3	-	12	1844	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S	GDPD5_ENST00000376282.3_Missense_Mutation_p.N217S|GDPD5_ENST00000529721.1_Missense_Mutation_p.N336S|GDPD5_ENST00000533784.1_Missense_Mutation_p.N217S|GDPD5_ENST00000526177.1_Missense_Mutation_p.N198S|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.N91S	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	336	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GATGGACTGGTTCTGGGCCTC	0.652																																						dbGAP											0													50.0	47.0	48.0					11																	75153568		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1007A>G	11.37:g.75153568T>C	ENSP00000337972:p.Asn336Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.N336S	ENST00000336898.3	37	c.1007	CCDS8238.1	11	.	.	.	.	.	.	.	.	.	.	t	22.3	4.271800	0.80469	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78	5.34	4.21	0.49690	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.094228	0.64402	D	0.000001	T	0.25044	0.0608	L	0.53780	1.695	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.964	T	0.00458	-1.1727	10	0.51188	T	0.08	-28.1294	9.2541	0.37573	0.0:0.0864:0.0:0.9136	.	217;336	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	S	198;217;336;336;91;217	ENSP00000434050:N198S;ENSP00000437049:N217S;ENSP00000433214:N336S;ENSP00000337972:N336S;ENSP00000435196:N91S;ENSP00000365459:N217S	ENSP00000337972:N336S	N	-	2	0	GDPD5	74831216	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.739000	0.68622	0.873000	0.35799	0.370000	0.22315	AAC	GDPD5	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000158555		0.652	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	HGNC	protein_coding	OTTHUMT00000384409.1	39	0.00	0	T	NM_030792		75153568	75153568	-1	no_errors	ENST00000336898	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	1.000	C
GEMIN8	54960	genome.wustl.edu	37	X	14027287	14027287	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:14027287C>T	ENST00000380523.4	-	5	792	c.474G>A	c.(472-474)cgG>cgA	p.R158R	GEMIN8_ENST00000398355.3_Splice_Site_p.R158R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	158					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GCTGCTGCCGCCCTGAGAACA	0.577																																						dbGAP											0													50.0	44.0	46.0					X																	14027287		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.473-1G>A	X.37:g.14027287C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AMC4|Q2LJ66|Q6ZV27	Silent	SNP	NULL	p.R158	ENST00000380523.4	37	c.474	CCDS14159.1	X																																																																																			GEMIN8	-	NULL	ENSG00000046647		0.577	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN8	HGNC	protein_coding	OTTHUMT00000055815.1	36	0.00	0	C	NM_017856	Silent	14027287	14027287	-1	no_errors	ENST00000380523	ensembl	human	known	69_37n	silent	32	17.95	7	SNP	0.998	T
GFPT2	9945	genome.wustl.edu	37	5	179729575	179729576	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:179729575_179729576insG	ENST00000253778.8	-	18	2020_2021	c.1851_1852insC	c.(1849-1854)cccattfs	p.I618fs		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	618	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CACAGTATAATGGGGCGACCCT	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1852dupC	5.37:g.179729579_179729579dupG	ENSP00000253778:p.Ile618fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XM2|Q9BWS4	Frame_Shift_Ins	INS	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.I617fs	ENST00000253778.8	37	c.1852_1851	CCDS43411.1	5																																																																																			GFPT2	-	pfam_SIS,tigrfam_GlmS_trans	ENSG00000131459		0.470	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	88	0.00	0	-	NM_005110		179729575	179729576	-1	no_errors	ENST00000253778	ensembl	human	known	69_37n	frame_shift_ins	142	11.80	19	INS	0.994:0.007	G
GFRAL	389400	genome.wustl.edu	37	6	55264205	55264205	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:55264205T>C	ENST00000340465.2	+	8	1173	c.1087T>C	c.(1087-1089)Tgt>Cgt	p.C363R		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	363					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GACAGTCACCTGTGGAATCCT	0.348																																						dbGAP											0													94.0	92.0	93.0					6																	55264205		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.1087T>C	6.37:g.55264205T>C	ENSP00000343636:p.Cys363Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTF6	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.C363R	ENST00000340465.2	37	c.1087	CCDS4957.1	6	.	.	.	.	.	.	.	.	.	.	T	13.82	2.350899	0.41599	.	.	ENSG00000187871	ENST00000340465	T	0.37411	1.2	5.57	3.17	0.36434	.	0.289012	0.27792	N	0.017821	T	0.15435	0.0372	L	0.27053	0.805	0.51767	D	0.999938	P	0.50272	0.933	P	0.48030	0.564	T	0.04678	-1.0934	10	0.72032	D	0.01	-4.6525	4.4504	0.11617	0.1723:0.0906:0.0:0.737	.	363	Q6UXV0	GFRAL_HUMAN	R	363	ENSP00000343636:C363R	ENSP00000343636:C363R	C	+	1	0	GFRAL	55372164	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	1.447000	0.35101	0.907000	0.36646	0.533000	0.62120	TGT	GFRAL	-	NULL	ENSG00000187871		0.348	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRAL	HGNC	protein_coding	OTTHUMT00000040995.2	74	0.00	0	T	NM_207410		55264205	55264205	+1	no_errors	ENST00000340465	ensembl	human	known	69_37n	missense	71	38.26	44	SNP	0.976	C
GGPS1	9453	genome.wustl.edu	37	1	235505913	235505913	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:235505913delA	ENST00000282841.5	+	4	961	c.729delA	c.(727-729)atafs	p.I243fs	GGPS1_ENST00000488594.1_Frame_Shift_Del_p.I243fs|GGPS1_ENST00000476121.1_Frame_Shift_Del_p.I243fs|GGPS1_ENST00000358966.2_Frame_Shift_Del_p.I243fs|GGPS1_ENST00000391855.2_Frame_Shift_Del_p.I189fs			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	243					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	ACATAGATATAAAAAAATACT	0.373																																						dbGAP											0													55.0	60.0	58.0					1																	235505913		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.729delA	1.37:g.235505913delA	ENSP00000282841:p.Ile243fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVQ8|Q5T2C8|Q6NW19	Frame_Shift_Del	DEL	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.K245fs	ENST00000282841.5	37	c.729	CCDS1604.1	1																																																																																			GGPS1	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000152904		0.373	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGPS1	HGNC	protein_coding	OTTHUMT00000092656.1	40	0.00	0	A	NM_004837		235505913	235505913	+1	no_errors	ENST00000282841	ensembl	human	known	69_37n	frame_shift_del	70	18.39	16	DEL	1.000	-
GIGYF1	64599	genome.wustl.edu	37	7	100283937	100283937	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:100283937T>C	ENST00000275732.5	-	8	2023	c.814A>G	c.(814-816)Agc>Ggc	p.S272G	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	272					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGTGAGAGCTGCCTCCCCCT	0.627																																						dbGAP											0													57.0	63.0	61.0					7																	100283937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.814A>G	7.37:g.100283937T>C	ENSP00000275732:p.Ser272Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.S272G	ENST00000275732.5	37	c.814	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	4.874	0.162452	0.09287	.	.	ENSG00000146830	ENST00000275732	D	0.83250	-1.7	4.21	-3.54	0.04653	.	0.665602	0.15752	N	0.246390	T	0.67173	0.2865	L	0.29908	0.895	0.27167	N	0.961001	B	0.02656	0.0	B	0.01281	0.0	T	0.51044	-0.8755	10	0.25106	T	0.35	-0.8901	8.2721	0.31851	0.1494:0.5939:0.0:0.2567	.	272	O75420	PERQ1_HUMAN	G	272	ENSP00000275732:S272G	ENSP00000275732:S272G	S	-	1	0	GIGYF1	100121873	0.458000	0.25760	0.060000	0.19600	0.018000	0.09664	-0.249000	0.08842	-0.713000	0.04981	-0.250000	0.11733	AGC	GIGYF1	-	NULL	ENSG00000146830		0.627	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	51	0.00	0	T	NM_022574		100283937	100283937	-1	no_errors	ENST00000275732	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	0.958	C
GIGYF2	26058	genome.wustl.edu	37	2	233697794	233697794	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:233697794G>A	ENST00000409547.1	+	24	3068	c.2757G>A	c.(2755-2757)gcG>gcA	p.A919A	GIGYF2_ENST00000409480.1_Silent_p.A941A|GIGYF2_ENST00000373566.3_Silent_p.A941A|GIGYF2_ENST00000452341.2_Silent_p.A750A|GIGYF2_ENST00000373563.4_Silent_p.A919A|GIGYF2_ENST00000409196.3_Silent_p.A913A|GIGYF2_ENST00000409451.3_Silent_p.A940A	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	919	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		aacagcTGGCGCAGATGAAGG	0.537																																						dbGAP											0													6.0	7.0	7.0					2																	233697794		2105	4146	6251	-	-	-	SO:0001819	synonymous_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2757G>A	2.37:g.233697794G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.A941	ENST00000409547.1	37	c.2823	CCDS33401.1	2																																																																																			GIGYF2	-	NULL	ENSG00000204120		0.537	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	15	0.00	0	G	NM_001103146		233697794	233697794	+1	no_errors	ENST00000373566	ensembl	human	known	69_37n	silent	19	20.00	5	SNP	0.019	A
GLA	2717	genome.wustl.edu	37	X	100652887	100652887	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:100652887A>G	ENST00000218516.3	-	7	1221	c.1200T>C	c.(1198-1200)acT>acC	p.T400T	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	400					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TTAACCTTGAAGTCCATTCAT	0.418																																					Colon(193;776 2816 31189 44474)	dbGAP											0													95.0	88.0	90.0					X																	100652887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.1200T>C	X.37:g.100652887A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LER7	Silent	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.T400	ENST00000218516.3	37	c.1200	CCDS14484.1	X																																																																																			GLA	-	NULL	ENSG00000102393		0.418	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	64	0.00	0	A			100652887	100652887	-1	no_errors	ENST00000218516	ensembl	human	known	69_37n	silent	59	35.16	32	SNP	0.001	G
GLT8D1	55830	genome.wustl.edu	37	3	52729457	52729457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:52729457delT	ENST00000407584.3	-	9	1642	c.792delA	c.(790-792)aaafs	p.K264fs	GLT8D1_ENST00000394783.3_Frame_Shift_Del_p.K264fs|GLT8D1_ENST00000266014.5_Frame_Shift_Del_p.K264fs|GLT8D1_ENST00000491606.1_Frame_Shift_Del_p.K264fs|GLT8D1_ENST00000463827.1_5'UTR|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000478968.2_Frame_Shift_Del_p.K264fs	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	264						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTTTCATCCATTTTTCCAGTT	0.383																																						dbGAP											0													199.0	203.0	202.0					3																	52729457		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.792delA	3.37:g.52729457delT	ENSP00000385730:p.Lys264fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4D1|Q8N2J6|Q9P0I5	Frame_Shift_Del	DEL	pfam_Glyco_trans_8	p.K264fs	ENST00000407584.3	37	c.792	CCDS2862.1	3																																																																																			GLT8D1	-	pfam_Glyco_trans_8	ENSG00000016864		0.383	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D1	HGNC	protein_coding	OTTHUMT00000352065.3	157	0.00	0	T	NM_152932		52729457	52729457	-1	no_errors	ENST00000266014	ensembl	human	known	69_37n	frame_shift_del	134	37.04	80	DEL	1.000	-
GMEB2	26205	genome.wustl.edu	37	20	62236137	62236137	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:62236137G>A	ENST00000266068.1	-	2	666	c.188C>T	c.(187-189)gCg>gTg	p.A63V	GMEB2_ENST00000370077.1_Missense_Mutation_p.A63V|GMEB2_ENST00000370069.1_Missense_Mutation_p.A12V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	63	Poly-Ala.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TGTGAAGGCCGCGGCAGCTGC	0.587																																						dbGAP											0													59.0	62.0	61.0					20																	62236137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.188C>T	20.37:g.62236137G>A	ENSP00000266068:p.Ala63Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom	p.A63V	ENST00000266068.1	37	c.188	CCDS13528.1	20	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979933	0.18812	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.64618	-0.11;0.49;0.49	5.02	5.02	0.67125	.	0.066720	0.64402	D	0.000015	T	0.34948	0.0915	N	0.08118	0	0.38651	D	0.951852	P	0.49253	0.921	B	0.28916	0.096	T	0.42582	-0.9443	10	0.15952	T	0.53	-0.2579	17.9247	0.88979	0.0:0.0:1.0:0.0	.	63	Q9UKD1	GMEB2_HUMAN	V	12;63;63	ENSP00000359086:A12V;ENSP00000359094:A63V;ENSP00000266068:A63V	ENSP00000266068:A63V	A	-	2	0	GMEB2	61706581	0.999000	0.42202	0.055000	0.19348	0.327000	0.28475	5.938000	0.70170	2.317000	0.78254	0.462000	0.41574	GCG	GMEB2	-	NULL	ENSG00000101216		0.587	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMEB2	HGNC	protein_coding	OTTHUMT00000080166.1	59	0.00	0	G	NM_012384		62236137	62236137	-1	no_errors	ENST00000266068	ensembl	human	known	69_37n	missense	46	37.33	28	SNP	0.853	A
GNL2	29889	genome.wustl.edu	37	1	38034680	38034680	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:38034680A>G	ENST00000373062.3	-	13	1738	c.1640T>C	c.(1639-1641)cTg>cCg	p.L547P	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	547					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CACAGGAACCAGGTCATCCCC	0.483																																						dbGAP											0													135.0	129.0	131.0					1																	38034680		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1640T>C	1.37:g.38034680A>G	ENSP00000362153:p.Leu547Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain	p.L547P	ENST00000373062.3	37	c.1640	CCDS421.1	1	.	.	.	.	.	.	.	.	.	.	A	32	5.110649	0.94292	.	.	ENSG00000134697	ENST00000373062	T	0.25912	1.77	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.60455	1.87	0.80722	D	1	D	0.58268	0.982	P	0.60236	0.871	T	0.11324	-1.0592	10	0.30854	T	0.27	-15.4826	16.8222	0.85835	1.0:0.0:0.0:0.0	.	547	Q13823	NOG2_HUMAN	P	547	ENSP00000362153:L547P	ENSP00000362153:L547P	L	-	2	0	GNL2	37807267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.191000	0.94940	2.371000	0.80710	0.533000	0.62120	CTG	GNL2	-	NULL	ENSG00000134697		0.483	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	145	0.00	0	A	NM_013285		38034680	38034680	-1	no_errors	ENST00000373062	ensembl	human	known	69_37n	missense	172	30.92	77	SNP	1.000	G
GOLGA4	2803	genome.wustl.edu	37	3	37366139	37366139	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:37366139A>G	ENST00000361924.2	+	14	3136	c.2762A>G	c.(2761-2763)aAg>aGg	p.K921R	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K943R	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	921	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGGACAGAAGAAAGAAATT	0.328																																						dbGAP											0													48.0	50.0	49.0					3																	37366139		2177	4269	6446	-	-	-	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2762A>G	3.37:g.37366139A>G	ENSP00000354486:p.Lys921Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.K921R	ENST00000361924.2	37	c.2762	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	A	2.741	-0.262148	0.05791	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.25085	1.82;1.82;1.82	5.05	-1.85	0.07784	.	1.192530	0.06386	N	0.716240	T	0.10637	0.0260	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.21520	0.01;0.01;0.01;0.057	B;B;B;B	0.15870	0.009;0.006;0.006;0.014	T	0.31503	-0.9941	10	0.16896	T	0.51	.	0.345	0.00339	0.3402:0.2608:0.1531:0.2459	.	921;921;943;921	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	R	921;943;482;792	ENSP00000354486:K921R;ENSP00000349305:K943R;ENSP00000405842:K792R	ENSP00000349305:K943R	K	+	2	0	GOLGA4	37341143	0.672000	0.27530	0.785000	0.31869	0.586000	0.36452	0.299000	0.19138	0.140000	0.18849	-0.242000	0.12053	AAG	GOLGA4	-	NULL	ENSG00000144674		0.328	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	28	0.00	0	A	NM_002078		37366139	37366139	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.250	G
GOLGA5	9950	genome.wustl.edu	37	14	93263950	93263950	+	Silent	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:93263950T>G	ENST00000163416.2	+	2	424	c.168T>G	c.(166-168)acT>acG	p.T56T	GOLGA5_ENST00000355976.2_Silent_p.T56T	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	56					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)		TATATCAGACTGGACCTAAAT	0.383			T	RET	papillary thyroid																																	dbGAP		Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0													86.0	81.0	83.0					14																	93263950		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.168T>G	14.37:g.93263950T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Silent	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.T56	ENST00000163416.2	37	c.168	CCDS9905.1	14																																																																																			GOLGA5	-	NULL	ENSG00000066455		0.383	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	67	0.00	0	T			93263950	93263950	+1	no_errors	ENST00000163416	ensembl	human	known	69_37n	silent	104	23.53	32	SNP	0.003	G
GOLGA8A	23015	genome.wustl.edu	37	15	34673938	34673938	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:34673938C>A	ENST00000359187.4	-	15	1637	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.A555S|GOLGA8A_ENST00000543376.1_Missense_Mutation_p.A382S|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.A525S	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	553	Golgi-targeting domain. {ECO:0000250}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TCCTGGGGGGCTGGGGCTCCT	0.682																																						dbGAP											0													2.0	2.0	2.0					15																	34673938		1246	2462	3708	-	-	-	SO:0001583	missense	0			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.1573G>T	15.37:g.34673938C>A	ENSP00000352111:p.Ala525Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.A555S	ENST00000359187.4	37	c.1663	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	c	12.12	1.844012	0.32606	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	0.379	0.379	0.16213	.	.	.	.	.	T	0.50480	0.1618	M	0.86502	2.82	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.987;0.998	T	0.28427	-1.0044	8	0.48119	T	0.1	.	.	.	.	.	525;553	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	S	525;525;555;382	ENSP00000352111:A525S;ENSP00000353755:A525S;ENSP00000402791:A555S;ENSP00000438613:A382S	ENSP00000352111:A525S	A	-	1	0	GOLGA8A	32461230	0.000000	0.05858	0.020000	0.16555	0.107000	0.19398	-1.481000	0.02323	0.437000	0.26423	0.184000	0.17185	GCC	GOLGA8A	-	NULL	ENSG00000175265		0.682	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	23	0.00	0	C	NM_181076		34673938	34673938	-1	no_errors	ENST00000432566	ensembl	human	known	69_37n	missense	9	25.00	3	SNP	0.054	A
GORASP1	64689	genome.wustl.edu	37	3	39140303	39140303	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:39140303A>G	ENST00000319283.3	-	8	1819	c.998T>C	c.(997-999)cTg>cCg	p.L333P	GORASP1_ENST00000422110.2_Missense_Mutation_p.L178P|GORASP1_ENST00000476334.1_5'UTR|GORASP1_ENST00000479927.1_Missense_Mutation_p.L238P	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	333					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTGGTGGTCAGTTCTGTGGA	0.592																																						dbGAP											0													99.0	88.0	92.0					3																	39140303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.998T>C	3.37:g.39140303A>G	ENSP00000313869:p.Leu333Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWC8|Q3SYG7|Q8N272|Q96H42	Missense_Mutation	SNP	pfam_GRASP55/65_PDZ,superfamily_PDZ	p.L333P	ENST00000319283.3	37	c.998	CCDS2681.1	3	.	.	.	.	.	.	.	.	.	.	A	1.867	-0.461317	0.04508	.	.	ENSG00000114745	ENST00000319283;ENST00000422110;ENST00000479927	T;T;T	0.60672	0.38;0.17;0.3	4.25	-3.74	0.04385	.	2.808200	0.01420	N	0.014347	T	0.55737	0.1939	M	0.63428	1.95	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.51068	-0.8752	10	0.45353	T	0.12	-0.0844	11.7855	0.52039	0.3174:0.0:0.6826:0.0	.	238;178;333	B4E1H8;B3KPY8;Q9BQQ3	.;.;GORS1_HUMAN	P	333;178;238	ENSP00000313869:L333P;ENSP00000395709:L178P;ENSP00000419123:L238P	ENSP00000313869:L333P	L	-	2	0	GORASP1	39115307	0.011000	0.17503	0.000000	0.03702	0.038000	0.13279	0.471000	0.22100	-0.569000	0.06030	-0.256000	0.11100	CTG	GORASP1	-	pfam_GRASP55/65_PDZ	ENSG00000114745		0.592	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP1	HGNC	protein_coding	OTTHUMT00000254060.1	98	0.00	0	A			39140303	39140303	-1	no_errors	ENST00000319283	ensembl	human	known	69_37n	missense	77	28.04	30	SNP	0.000	G
GOLGB1	2804	genome.wustl.edu	37	3	121414699	121414699	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:121414699A>G	ENST00000340645.5	-	13	4781	c.4656T>C	c.(4654-4656)atT>atC	p.I1552I	GOLGB1_ENST00000393667.3_Silent_p.I1557I	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1552					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCATTTCTGTAATGAGTTTGT	0.398																																						dbGAP											0													138.0	145.0	142.0					3																	121414699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4656T>C	3.37:g.121414699A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.I1552	ENST00000340645.5	37	c.4656	CCDS3004.1	3																																																																																			GOLGB1	-	NULL	ENSG00000173230		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	101	0.00	0	A	NM_004487		121414699	121414699	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	silent	98	27.41	37	SNP	0.948	G
GOT1L1	137362	genome.wustl.edu	37	8	37791834	37791834	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:37791834delT	ENST00000307599.4	-	9	1342	c.1243delA	c.(1243-1245)acafs	p.T415fs		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	415					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCAATCAGTGTTTTTTTTTCC	0.373																																						dbGAP											0										5,0,3547		2,0,1,0,0,1773	129.0	126.0	127.0			0.1	0.0	8		127	3,5,7804		0,0,3,1,3,3899	no	codingComplex	GOT1L1	NM_152413.2		2,0,4,1,3,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1024,0.1408,0.1144			37791834	8,5,11351	1845	4083	5928	-	-	-	SO:0001589	frameshift_variant	0			BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1243delA	8.37:g.37791834delT	ENSP00000303077:p.Thr415fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWL4	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans	p.T415fs	ENST00000307599.4	37	c.1243	CCDS47839.1	8																																																																																			GOT1L1	-	NULL	ENSG00000169154		0.373	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1L1	HGNC	protein_coding	OTTHUMT00000376823.1	110	0.00	0	T	NM_152413		37791834	37791834	-1	no_errors	ENST00000307599	ensembl	human	known	69_37n	frame_shift_del	139	31.28	66	DEL	0.000	-
GPAA1	8733	genome.wustl.edu	37	8	145138727	145138727	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:145138727T>C	ENST00000355091.4	+	4	598	c.477T>C	c.(475-477)gcT>gcC	p.A159A	GPAA1_ENST00000361036.6_Silent_p.A99A|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	159					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	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;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCCAGGCTGTGGGGCTGC	0.672																																						dbGAP											0													25.0	30.0	29.0					8																	145138727		2152	4258	6410	-	-	-	SO:0001819	synonymous_variant	0			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.477T>C	8.37:g.145138727T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	NULL	p.L134P	ENST00000355091.4	37	c.401	CCDS43776.1	8																																																																																			GPAA1	-	NULL	ENSG00000197858		0.672	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	25	0.00	0	T	NM_003801		145138727	145138727	+1	no_errors	ENST00000529503	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.755	C
GPR112	139378	genome.wustl.edu	37	X	135480086	135480086	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:135480086C>T	ENST00000394143.1	+	20	8522	c.8231C>T	c.(8230-8232)gCg>gTg	p.A2744V	GPR112_ENST00000287534.4_Missense_Mutation_p.A2497V|GPR112_ENST00000394141.1_Missense_Mutation_p.A2539V|GPR112_ENST00000412101.1_Missense_Mutation_p.A2539V|GPR112_ENST00000370652.1_Missense_Mutation_p.A2744V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2744					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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGATATTAGCGCTTATAACA	0.408																																						dbGAP											0													183.0	152.0	162.0					X																	135480086		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8231C>T	X.37:g.135480086C>T	ENSP00000377699:p.Ala2744Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A2744V	ENST00000394143.1	37	c.8231	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	3.407	-0.121031	0.06838	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	6.17	-0.33	0.12683	GPCR, family 2-like (1);	.	.	.	.	T	0.15696	0.0378	N	0.11201	0.11	0.09310	N	1	B;B	0.16802	0.019;0.001	B;B	0.14023	0.003;0.01	T	0.32929	-0.9888	9	0.08381	T	0.77	.	8.1065	0.30890	0.0:0.5647:0.1424:0.2929	.	2539;2744	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	V	2744;2744;2539;2497;2539	ENSP00000377699:A2744V;ENSP00000359686:A2744V;ENSP00000416526:A2539V;ENSP00000287534:A2497V;ENSP00000377697:A2539V	ENSP00000287534:A2497V	A	+	2	0	GPR112	135307752	0.718000	0.27976	0.014000	0.15608	0.982000	0.71751	1.322000	0.33689	0.016000	0.14998	-0.340000	0.08031	GCG	GPR112	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000156920		0.408	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	112	0.00	0	C			135480086	135480086	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	151	17.03	31	SNP	0.081	T
GPR139	124274	genome.wustl.edu	37	16	20043420	20043420	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:20043420A>G	ENST00000570682.1	-	2	999	c.699T>C	c.(697-699)atT>atC	p.I233I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	233					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGATGGAGGTAATGGTGAACA	0.517																																						dbGAP											0													84.0	90.0	88.0					16																	20043420		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.699T>C	16.37:g.20043420A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.I233	ENST00000570682.1	37	c.699	CCDS32398.1	16																																																																																			GPR139	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000180269		0.517	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	53	0.00	0	A	NM_001002911		20043420	20043420	-1	no_errors	ENST00000570682	ensembl	human	known	69_37n	silent	64	28.09	25	SNP	0.939	G
GPR15	2838	genome.wustl.edu	37	3	98251821	98251821	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:98251821A>G	ENST00000284311.3	+	1	1079	c.944A>G	c.(943-945)cAc>cGc	p.H315R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	315					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GCCATTGTCCACTGCTTGTGC	0.488																																						dbGAP											0													90.0	94.0	92.0					3																	98251821		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.944A>G	3.37:g.98251821A>G	ENSP00000284311:p.His315Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.H315R	ENST00000284311.3	37	c.944	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.029320	0.00410	.	.	ENSG00000154165	ENST00000284311	T	0.32753	1.44	5.08	-7.5	0.01351	.	0.882115	0.09441	N	0.801807	T	0.10078	0.0247	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	10	0.02654	T	1	0.0082	18.7793	0.91925	0.2745:0.0:0.7255:0.0	.	315	P49685	GPR15_HUMAN	R	315	ENSP00000284311:H315R	ENSP00000284311:H315R	H	+	2	0	GPR15	99734511	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.535000	0.06142	-1.383000	0.02106	-0.250000	0.11733	CAC	GPR15	-	pfam_7TM_GPCR_serpentine_rcpt_Srv	ENSG00000154165		0.488	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1	33	0.00	0	A			98251821	98251821	+1	no_errors	ENST00000284311	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	0.000	G
GPR173	54328	genome.wustl.edu	37	X	53106578	53106578	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:53106578C>T	ENST00000332582.4	+	2	1266	c.775C>T	c.(775-777)Ctg>Ttg	p.L259L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	259					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						ACCAACCCTGCTGGGTATCCG	0.647																																						dbGAP											0													37.0	30.0	33.0					X																	53106578		2193	4294	6487	-	-	-	SO:0001819	synonymous_variant	0			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.775C>T	X.37:g.53106578C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0A5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L259	ENST00000332582.4	37	c.775	CCDS14349.1	X																																																																																			GPR173	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184194		0.647	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	30	0.00	0	C	NM_018969		53106578	53106578	+1	no_errors	ENST00000332582	ensembl	human	known	69_37n	silent	44	21.43	12	SNP	1.000	T
GPSM2	29899	genome.wustl.edu	37	1	109466838	109466838	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:109466838T>C	ENST00000406462.2	+	15	2588		c.e15+2		AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Splice_Site			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						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)		AAATGTCAAGTATGTCTGTAT	0.368																																						dbGAP											0													81.0	69.0	73.0					1																	109466838		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			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.1815+2T>C	1.37:g.109466838T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1N8|Q6IBL7|Q8N0Z5	Splice_Site	SNP	-	e13+2	ENST00000406462.2	37	c.1815+2	CCDS792.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.01|19.01	3.743298|3.743298	0.69418|0.69418	.|.	.|.	ENSG00000121957|ENSG00000121957	ENST00000406462;ENST00000264126|ENST00000441735	.|.	.|.	.|.	5.48|5.48	4.36|4.36	0.52297|0.52297	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49915	.|0.1585	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49934	.|-0.8886	.|4	.|.	.|.	.|.	.|.	11.2756|11.2756	0.49165|0.49165	0.0:0.0715:0.0:0.9285|0.0:0.0715:0.0:0.9285	.|.	.|.	.|.	.|.	.|H	-1|196	.|.	.|.	.|Y	+|+	.|1	.|0	GPSM2|GPSM2	109268361|109268361	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.924000|0.924000	0.55760|0.55760	5.650000|5.650000	0.67944|0.67944	0.922000|0.922000	0.37019|0.37019	0.459000|0.459000	0.35465|0.35465	.|TAT	GPSM2	-	-	ENSG00000121957		0.368	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	57	0.00	0	T	NM_013296	Intron	109466838	109466838	+1	no_errors	ENST00000264126	ensembl	human	known	69_37n	splice_site	79	25.47	27	SNP	1.000	C
GPR89A	653519	genome.wustl.edu	37	1	145769496	145769496	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:145769496A>G	ENST00000313835.9	-	12	1150	c.1007T>C	c.(1006-1008)gTg>gCg	p.V336A	GPR89A_ENST00000534502.1_Splice_Site_p.V311A|GPR89A_ENST00000478703.1_5'Flank|GPR89A_ENST00000462900.2_Splice_Site_p.V311A|GPR89A_ENST00000454423.3_Splice_Site_p.V216A			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	336					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CCAAAACTTCACCTGCCACCA	0.408																																						dbGAP											0													4.0	5.0	5.0					1																	145769496		1382	3137	4519	-	-	-	SO:0001630	splice_region_variant	0			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.1006-1T>C	1.37:g.145769496A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom	p.V336A	ENST00000313835.9	37	c.1007	CCDS41377.1	1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429606	0.62844	.	.	ENSG00000117262	ENST00000313835;ENST00000454423;ENST00000534502;ENST00000462900	.	.	.	4.76	3.61	0.41365	.	0.071337	0.56097	D	0.000037	T	0.56572	0.1994	M	0.76727	2.345	0.58432	D	0.999997	D;D	0.64830	0.994;0.994	P;P	0.59357	0.856;0.856	T	0.56798	-0.7919	9	0.30854	T	0.27	-9.0492	8.9317	0.35675	0.8333:0.0:0.0:0.1667	.	336;336	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	A	336;216;311;311	.	ENSP00000319673:V336A	V	-	2	0	GPR89A	144480853	1.000000	0.71417	0.994000	0.49952	0.836000	0.47400	9.023000	0.93683	0.649000	0.30751	0.377000	0.23210	GTG	GPR89A	-	pfam_ABA_GPCR_dom	ENSG00000117262		0.408	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR89A	HGNC	protein_coding	OTTHUMT00000038507.2	253	0.00	0	A	NM_001097612	Missense_Mutation	145769496	145769496	-1	no_errors	ENST00000313835	ensembl	human	known	69_37n	missense	254	15.51	67	SNP	1.000	G
GREB1	9687	genome.wustl.edu	37	2	11696749	11696749	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:11696749T>C	ENST00000381486.2	+	2	309	c.9T>C	c.(7-9)aaT>aaC	p.N3N	GREB1_ENST00000381483.2_Silent_p.N3N|GREB1_ENST00000234142.5_Silent_p.N3N|GREB1_ENST00000263834.5_Silent_p.N3N|GREB1_ENST00000389825.3_Intron	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	3						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGATGGGAAATTCTTACGCTG	0.512																																					Ovarian(39;850 945 2785 23371 33093)	dbGAP											0													91.0	88.0	89.0					2																	11696749		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.9T>C	2.37:g.11696749T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.N3	ENST00000381486.2	37	c.9	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.512	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	60	0.00	0	T	NM_014668		11696749	11696749	+1	no_errors	ENST00000234142	ensembl	human	known	69_37n	silent	71	33.64	36	SNP	1.000	C
GRHL2	79977	genome.wustl.edu	37	8	102661727	102661727	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:102661727G>A	ENST00000251808.3	+	14	2036	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	GRHL2_ENST00000517674.1_Intron|GRHL2_ENST00000395927.1_Splice_Site_p.A550A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	566					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)			TGATGGAAGCGGTAAGCCATA	0.512																																						dbGAP											0													163.0	131.0	142.0					8																	102661727		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			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.1698+1G>A	8.37:g.102661727G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L303|Q6NT03|Q9H8B8	Silent	SNP	pfam_CP2	p.A566	ENST00000251808.3	37	c.1698	CCDS34931.1	8																																																																																			GRHL2	-	NULL	ENSG00000083307		0.512	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	102	0.00	0	G	NM_024915	Silent	102661727	102661727	+1	no_errors	ENST00000251808	ensembl	human	known	69_37n	silent	204	12.02	28	SNP	1.000	A
GRHPR	9380	genome.wustl.edu	37	9	37430701	37430701	+	Intron	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:37430701A>C	ENST00000318158.6	+	7	819				GRHPR_ENST00000607784.1_Intron	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase						cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CACTGCTGCCATCTGGAGATT	0.512																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.734+58A>C	9.37:g.37430701A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420	p.P264	ENST00000318158.6	37	c.792	CCDS6609.1	9																																																																																			GRHPR	-	NULL	ENSG00000137106		0.512	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1	26	0.00	0	A	NM_012203		37430701	37430701	+1	no_errors	ENST00000377824	ensembl	human	known	69_37n	silent	45	22.03	13	SNP	0.000	C
GRXCR1	389207	genome.wustl.edu	37	4	42895324	42895324	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:42895324G>A	ENST00000399770.2	+	1	41	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	14					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GACAGGCCACGGAAAGTCCGG	0.512																																						dbGAP											0													101.0	108.0	106.0					4																	42895324		2022	4181	6203	-	-	-	SO:0001583	missense	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.41G>A	4.37:g.42895324G>A	ENSP00000382670:p.Arg14Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.R14Q	ENST00000399770.2	37	c.41	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395008	0.25205	.	.	ENSG00000215203	ENST00000399770	T	0.28666	1.6	5.63	5.63	0.86233	.	0.067078	0.56097	U	0.000027	T	0.34832	0.0911	L	0.59436	1.845	0.33539	D	0.594683	B	0.22146	0.065	B	0.14578	0.011	T	0.42582	-0.9443	10	0.54805	T	0.06	7.5511	18.6831	0.91554	0.0:0.0:1.0:0.0	.	14	A8MXD5	GRCR1_HUMAN	Q	14	ENSP00000382670:R14Q	ENSP00000382670:R14Q	R	+	2	0	GRXCR1	42590081	1.000000	0.71417	0.975000	0.42487	0.101000	0.19017	4.798000	0.62510	2.649000	0.89929	0.650000	0.86243	CGG	GRXCR1	-	NULL	ENSG00000215203		0.512	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	65	0.00	0	G	NM_001080476		42895324	42895324	+1	no_errors	ENST00000399770	ensembl	human	known	69_37n	missense	57	35.96	32	SNP	0.975	A
GTF2H3	2967	genome.wustl.edu	37	12	124130032	124130032	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:124130032A>G	ENST00000543341.2	+	3	155	c.124A>G	c.(124-126)Atg>Gtg	p.M42V	GTF2H3_ENST00000228955.7_Start_Codon_SNP_p.M1V	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	42					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		AGATGCCGTGATGGTGCTGGG	0.358								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	dbGAP											0													151.0	128.0	135.0					12																	124130032		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.124A>G	12.37:g.124130032A>G	ENSP00000445162:p.Met42Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	pfam_TF_Tfb4,tigrfam_TF_Tfb4	p.M42V	ENST00000543341.2	37	c.124	CCDS9252.1	12	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441137	0.43326	.	.	ENSG00000111358	ENST00000539994;ENST00000538845;ENST00000228955;ENST00000543341;ENST00000536375;ENST00000538533	.	.	.	5.84	4.68	0.58851	.	0.040551	0.85682	D	0.000000	T	0.44664	0.1304	N	0.24115	0.695	0.46185	D	0.998915	B	0.10296	0.003	B	0.06405	0.002	T	0.36163	-0.9759	9	0.87932	D	0	.	13.0025	0.58683	0.865:0.135:0.0:0.0	.	42	Q13889	TF2H3_HUMAN	V	32;57;1;42;42;1	.	ENSP00000228955:M1V	M	+	1	0	GTF2H3	122695985	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.873000	0.63057	1.111000	0.41721	0.519000	0.50382	ATG	GTF2H3	-	pfam_TF_Tfb4,tigrfam_TF_Tfb4	ENSG00000111358		0.358	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	HGNC	protein_coding	OTTHUMT00000400641.2	159	0.00	0	A	NM_001516		124130032	124130032	+1	no_errors	ENST00000543341	ensembl	human	known	69_37n	missense	115	36.81	67	SNP	1.000	G
GTF2I	2969	genome.wustl.edu	37	7	74105366	74105366	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:74105366T>C	ENST00000324896.4	+	3	550	c.161T>C	c.(160-162)gTg>gCg	p.V54A	GTF2I_ENST00000416070.1_Missense_Mutation_p.V54A|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.V54A|GTF2I_ENST00000346152.4_Missense_Mutation_p.V54A|GTF2I_ENST00000353920.4_Missense_Mutation_p.V54A	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	54					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAAACAGACGTGTTTGTCGTC	0.388																																						dbGAP											0													164.0	152.0	156.0					7																	74105366		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.161T>C	7.37:g.74105366T>C	ENSP00000322542:p.Val54Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.V54A	ENST00000324896.4	37	c.161	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788627	0.31685	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166;ENST00000432143	T;T;T;T;T	0.50813	1.23;1.28;1.28;1.32;0.73	4.54	4.54	0.55810	.	0.217439	0.31531	N	0.007500	T	0.55481	0.1923	L	0.50333	1.59	0.41698	D	0.989383	B;P;P;B;D;P	0.54964	0.451;0.906;0.954;0.356;0.969;0.917	B;P;D;B;D;B	0.67900	0.112;0.539;0.954;0.164;0.93;0.42	T	0.52711	-0.8539	10	0.23891	T	0.37	-10.7494	7.9121	0.29798	0.0:0.0937:0.0:0.9063	.	54;54;54;54;54;54	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	A	54;49;54;54;54;54;54	ENSP00000322542:V54A;ENSP00000322671:V54A;ENSP00000322599:V54A;ENSP00000387651:V54A;ENSP00000404240:V54A	ENSP00000322542:V54A	V	+	2	0	GTF2I	73743302	1.000000	0.71417	0.994000	0.49952	0.095000	0.18619	5.072000	0.64389	1.693000	0.51124	0.455000	0.32223	GTG	GTF2I	-	pirsf_TF_II-I	ENSG00000077809		0.388	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	100	0.00	0	T	NM_032999		74105366	74105366	+1	no_errors	ENST00000324896	ensembl	human	known	69_37n	missense	112	29.56	47	SNP	0.997	C
GTF2IRD2	84163	genome.wustl.edu	37	7	74212284	74212284	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:74212284C>T	ENST00000405086.2	-	16	1756	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.V70M	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						acaggctgcacgggggatttc	0.478																																					NSCLC(40;560 1096 7501 40315 49546)	dbGAP											0													31.0	4.0	14.0					7																	74212284		1751	2927	4678	-	-	-	SO:0001583	missense	0			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1567G>A	7.37:g.74212284C>T	ENSP00000385491:p.Val523Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.V523M	ENST00000405086.2	37	c.1567	CCDS5576.1	7	.	.	.	.	.	.	.	.	.	.	c	0.039	-1.292216	0.01375	.	.	ENSG00000196275	ENST00000405086;ENST00000451013	T;T	0.11821	2.93;2.74	1.74	-0.194	0.13240	.	.	.	.	.	T	0.08582	0.0213	L	0.36672	1.1	0.19300	N	0.999978	B	0.30146	0.27	B	0.12156	0.007	T	0.27400	-1.0075	9	0.62326	D	0.03	-0.29	4.2086	0.10500	0.0:0.6082:0.0:0.3918	.	523	Q86UP8	GTD2A_HUMAN	M	523;70	ENSP00000385491:V523M;ENSP00000406723:V70M	ENSP00000385491:V523M	V	-	1	0	GTF2IRD2	73850220	0.157000	0.22836	0.055000	0.19348	0.018000	0.09664	1.812000	0.38952	-0.049000	0.13379	-0.432000	0.05891	GTG	GTF2IRD2	-	NULL	ENSG00000196275		0.478	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2	HGNC	protein_coding	OTTHUMT00000252712.3	49	0.00	0	C	NM_173537		74212284	74212284	-1	no_errors	ENST00000405086	ensembl	human	known	69_37n	missense	64	27.27	24	SNP	0.073	T
GTPBP3	84705	genome.wustl.edu	37	19	17449407	17449407	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:17449407A>G	ENST00000324894.8	+	4	516	c.448A>G	c.(448-450)Aat>Gat	p.N150D	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.N150D|GTPBP3_ENST00000600625.1_Missense_Mutation_p.N150D|GTPBP3_ENST00000361619.5_Missense_Mutation_p.N172D	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	150					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGCGTTCGCCAATGGGAAGCT	0.682																																						dbGAP											0													48.0	57.0	54.0					19																	17449407		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.448A>G	19.37:g.17449407A>G	ENSP00000313818:p.Asn150Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.N150D	ENST00000324894.8	37	c.448	CCDS32951.1	19	.	.	.	.	.	.	.	.	.	.	a	17.66	3.445643	0.63178	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.14893	2.47;2.47;2.47	5.22	2.98	0.34508	GTP-binding protein TrmE, N-terminal (2);	0.401970	0.28883	N	0.013840	T	0.48169	0.1485	H	0.98005	4.125	0.25125	N	0.99062	P;P;P;P	0.48911	0.783;0.754;0.917;0.515	P;P;P;B	0.54759	0.675;0.685;0.76;0.135	T	0.53837	-0.8382	10	0.59425	D	0.04	-11.6008	10.516	0.44889	0.5396:0.4604:0.0:0.0	.	172;150;150;150	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	D	172;150;150	ENSP00000354598:N172D;ENSP00000313818:N150D;ENSP00000351644:N150D	ENSP00000313818:N150D	N	+	1	0	GTPBP3	17310407	0.183000	0.23186	0.971000	0.41717	0.609000	0.37215	1.005000	0.29834	1.188000	0.43014	-0.308000	0.09152	AAT	GTPBP3	-	pfam_GTP-bd_TrmE_N	ENSG00000130299		0.682	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP3	HGNC	protein_coding	OTTHUMT00000463624.1	36	0.00	0	A	NM_032620		17449407	17449407	+1	no_errors	ENST00000358792	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	0.988	G
GZF1	64412	genome.wustl.edu	37	20	23350233	23350233	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:23350233A>G	ENST00000338121.5	+	5	1717	c.1640A>G	c.(1639-1641)tAc>tGc	p.Y547C	GZF1_ENST00000542987.1_Missense_Mutation_p.Y56C|GZF1_ENST00000377051.2_Missense_Mutation_p.Y547C|GZF1_ENST00000544236.1_Missense_Mutation_p.Y71C			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	547					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAGCGTCCCTACTGCTGTGAC	0.582																																						dbGAP											0													119.0	117.0	118.0					20																	23350233		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1640A>G	20.37:g.23350233A>G	ENSP00000338290:p.Tyr547Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y547C	ENST00000338121.5	37	c.1640	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208917	0.79240	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.69306	1.8;-0.39;1.8;-0.39	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.237133	0.28946	N	0.013638	T	0.81711	0.4880	M	0.76433	2.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83589	0.0122	10	0.72032	D	0.01	.	15.5696	0.76323	1.0:0.0:0.0:0.0	.	547	Q9H116	GZF1_HUMAN	C	71;547;56;547	ENSP00000445458:Y71C;ENSP00000338290:Y547C;ENSP00000445118:Y56C;ENSP00000366250:Y547C	ENSP00000338290:Y547C	Y	+	2	0	GZF1	23298233	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.390000	0.79816	2.273000	0.75805	0.528000	0.53228	TAC	GZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125812		0.582	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	20	0.00	0	A	NM_022482		23350233	23350233	+1	no_errors	ENST00000338121	ensembl	human	known	69_37n	missense	12	50.00	12	SNP	1.000	G
HCP5	10866	genome.wustl.edu	37	6	31431503	31431503	+	RNA	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:31431503C>T	ENST00000414046.2	+	0	575					NR_040662.1		Q6MZN7	HCP5_HUMAN	HLA complex P5 (non-protein coding)						defense response (GO:0006952)					urinary_tract(1)	1						cctggaaatgcgactgaaatc	0.542																																						dbGAP											0													116.0	119.0	118.0					6																	31431503		2203	4300	6503	-	-	-			0			D88650		6p21.3	2012-10-16	2011-08-02		ENSG00000206337	ENSG00000206337		"""Long non-coding RNAs"""	21659	non-coding RNA	RNA, long non-coding		604676	"""HLA complex P5"""			8462994, 10199916	Standard	NR_040662		Approved	D6S2650E, P5-1	uc003ntl.3	Q6MZN7	OTTHUMG00000031282		6.37:g.31431503C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q04490	RNA	SNP	-	NULL	ENST00000414046.2	37	NULL		6																																																																																			HCP5	-	-	ENSG00000206337		0.542	HCP5-001	KNOWN	basic	sense_overlapping	HCP5	HGNC	sense_overlapping	OTTHUMT00000076614.4	98	0.00	0	C	NR_040662		31431503	31431503	+1	no_errors	ENST00000414046	ensembl	human	known	69_37n	rna	117	31.98	55	SNP	0.014	T
HEATR1	55127	genome.wustl.edu	37	1	236714266	236714266	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:236714266T>C	ENST00000366582.3	-	45	6485	c.6371A>G	c.(6370-6372)cAg>cGg	p.Q2124R	RP11-385F5.4_ENST00000433131.1_RNA|HEATR1_ENST00000366581.2_Missense_Mutation_p.Q2043R|LGALS8_ENST00000526589.1_3'UTR|LGALS8_ENST00000366584.4_3'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2124					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTTGGCACTGATGTTCTAC	0.373																																						dbGAP											0													119.0	117.0	118.0					1																	236714266		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6371A>G	1.37:g.236714266T>C	ENSP00000355541:p.Gln2124Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.Q2124R	ENST00000366582.3	37	c.6371	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738071	0.89573	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64991	-0.13;-0.13	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.124012	0.56097	D	0.000027	T	0.71736	0.3375	L	0.46157	1.445	0.80722	D	1	P;D	0.71674	0.737;0.998	B;D	0.64776	0.286;0.929	T	0.71712	-0.4510	10	0.44086	T	0.13	.	15.5185	0.75846	0.0:0.0:0.0:1.0	.	2043;2124	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	R	2124;2043	ENSP00000355541:Q2124R;ENSP00000355540:Q2043R	ENSP00000355540:Q2043R	Q	-	2	0	HEATR1	234780889	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.783000	0.68982	2.246000	0.74042	0.533000	0.62120	CAG	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	81	0.00	0	T	XM_375853		236714266	236714266	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	missense	162	15.18	29	SNP	1.000	C
HEATR5B	54497	genome.wustl.edu	37	2	37286079	37286079	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:37286079A>T	ENST00000233099.5	-	13	1996	c.1901T>A	c.(1900-1902)aTt>aAt	p.I634N	HEATR5B_ENST00000354531.2_Missense_Mutation_p.I634N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	634						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAATTTTCGAATCACATCTTC	0.353																																						dbGAP											0													96.0	90.0	92.0					2																	37286079		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1901T>A	2.37:g.37286079A>T	ENSP00000233099:p.Ile634Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I634N	ENST00000233099.5	37	c.1901	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707346	0.68615	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.68479	-0.33;-0.33	6.13	6.13	0.99165	Armadillo-like helical (1);Armadillo-type fold (1);	0.044932	0.85682	D	0.000000	T	0.59662	0.2210	L	0.39898	1.24	0.80722	D	1	B	0.09022	0.002	B	0.17433	0.018	T	0.53830	-0.8383	10	0.22109	T	0.4	-23.9009	16.7898	0.85586	1.0:0.0:0.0:0.0	.	634	Q9P2D3	HTR5B_HUMAN	N	634	ENSP00000233099:I634N;ENSP00000346531:I634N	ENSP00000233099:I634N	I	-	2	0	HEATR5B	37139583	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.224000	0.95209	2.364000	0.80123	0.524000	0.50904	ATT	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.353	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	86	0.00	0	A	NM_019024		37286079	37286079	-1	no_errors	ENST00000233099	ensembl	human	known	69_37n	missense	83	38.97	53	SNP	1.000	T
HERC2	8924	genome.wustl.edu	37	15	28525309	28525309	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:28525309G>A	ENST00000261609.7	-	5	555	c.447C>T	c.(445-447)cgC>cgT	p.R149R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CAATGAAATAGCGCTCCAAGA	0.502																																						dbGAP											0													110.0	105.0	107.0					15																	28525309		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.447C>T	15.37:g.28525309G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.R149	ENST00000261609.7	37	c.447	CCDS10021.1	15																																																																																			HERC2	-	NULL	ENSG00000128731		0.502	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	104	0.00	0	G	NM_004667		28525309	28525309	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	silent	68	17.86	15	SNP	0.883	A
HGS	9146	genome.wustl.edu	37	17	79663911	79663911	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:79663911T>G	ENST00000329138.4	+	18	1900	c.1765T>G	c.(1765-1767)Ttc>Gtc	p.F589V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	589	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACCAGCCAGCTTCCCCAGCAC	0.682																																						dbGAP											0													39.0	48.0	45.0					17																	79663911		2201	4296	6497	-	-	-	SO:0001583	missense	0			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1765T>G	17.37:g.79663911T>G	ENSP00000331201:p.Phe589Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NR36	Missense_Mutation	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.F589V	ENST00000329138.4	37	c.1765	CCDS11784.1	17	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686096	0.47991	.	.	ENSG00000185359	ENST00000329138	T	0.36157	1.27	4.17	4.17	0.49024	.	0.426506	0.25768	N	0.028432	T	0.25938	0.0632	L	0.40543	1.245	0.41103	D	0.985685	B	0.31910	0.346	B	0.25140	0.058	T	0.06338	-1.0832	10	0.17369	T	0.5	-28.9683	12.521	0.56058	0.0:0.0:0.0:1.0	.	589	O14964	HGS_HUMAN	V	589	ENSP00000331201:F589V	ENSP00000331201:F589V	F	+	1	0	HGS	77274316	1.000000	0.71417	0.998000	0.56505	0.711000	0.40976	7.236000	0.78154	1.755000	0.51935	0.448000	0.29417	TTC	HGS	-	pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.682	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	13	0.00	0	T	NM_004712		79663911	79663911	+1	no_errors	ENST00000329138	ensembl	human	known	69_37n	missense	15	27.27	6	SNP	1.000	G
HIPK2	28996	genome.wustl.edu	37	7	139257859	139257859	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:139257859T>C	ENST00000406875.3	-	15	3505	c.3411A>G	c.(3409-3411)ccA>ccG	p.P1137P	HIPK2_ENST00000428878.2_Silent_p.P1110P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1137	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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 transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CGATGCTGGCTGGGTAGGCAG	0.701																																						dbGAP											0													25.0	31.0	29.0					7																	139257859		2146	4245	6391	-	-	-	SO:0001819	synonymous_variant	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3411A>G	7.37:g.139257859T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MR7|Q8WWI4|Q9H2Y1	Silent	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.P1137	ENST00000406875.3	37	c.3411		7																																																																																			HIPK2	-	NULL	ENSG00000064393		0.701	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	64	0.00	0	T	NM_022740		139257859	139257859	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	silent	98	11.71	13	SNP	0.041	C
HIPK3	10114	genome.wustl.edu	37	11	33360386	33360386	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:33360386G>A	ENST00000303296.4	+	5	1730	c.1425G>A	c.(1423-1425)gcG>gcA	p.A475A	HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000456517.1_Silent_p.A475A|HIPK3_ENST00000379016.3_Silent_p.A475A|HIPK3_ENST00000525975.1_Silent_p.A475A	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	475	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATGATGTAGCGCATGTGAGTA	0.393																																						dbGAP											0													148.0	135.0	139.0					11																	33360386		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1425G>A	11.37:g.33360386G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	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.A475	ENST00000303296.4	37	c.1425	CCDS7884.1	11																																																																																			HIPK3	-	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	ENSG00000110422		0.393	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	57	0.00	0	G	NM_005734		33360386	33360386	+1	no_errors	ENST00000303296	ensembl	human	known	69_37n	silent	87	18.69	20	SNP	1.000	A
HLA-C	3107	genome.wustl.edu	37	6	31239109	31239109	+	Missense_Mutation	SNP	C	C	A	rs281860445		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:31239109C>A	ENST00000376228.5	-	3	374	c.360G>T	c.(358-360)caG>caT	p.Q120H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Q120H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	120	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CAGACATCCTCTGGAGGGTGT	0.701																																						dbGAP											0													20.0	19.0	19.0					6																	31239109		2159	4234	6393	-	-	-	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.360G>T	6.37:g.31239109C>A	ENSP00000365402:p.Gln120His	Somatic		WXS	Illumina GAIIx	Phase_IV	O02864|O02958|Q29643|Q9MY30	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	p.E120*	ENST00000376228.5	37	c.358	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.09|10.09	1.253777|1.253777	0.22965|0.22965	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00293	.|8.26;8.26	2.81|2.81	1.92|1.92	0.25849|0.25849	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.000000	.|0.34580	.|U	.|0.003847	.|T	.|0.00906	.|0.0030	H|H	0.99999|0.99999	5.615|5.615	0.20926|0.20926	N|N	0.999821|0.999821	.|D;D;D;P;D	.|0.76494	.|0.968;0.999;0.968;0.943;0.986	.|D;D;D;P;D	.|0.87578	.|0.91;0.998;0.91;0.872;0.91	.|T	.|0.52830	.|-0.8523	.|10	.|0.87932	.|D	.|0	.|.	9.1335|9.1335	0.36859|0.36859	0.2197:0.7803:0.0:0.0|0.2197:0.7803:0.0:0.0	.|.	.|120;95;120;120;120	.|A2AEA4;Q92671;A6H578;A2AEA2;P10321	.|.;.;.;.;1C07_HUMAN	X|H	120|120;120;120;157	.|ENSP00000365402:Q120H;ENSP00000372819:Q120H	.|ENSP00000365402:Q120H	E|Q	-|-	1|3	0|2	HLA-C|HLA-C	31347088|31347088	0.004000|0.004000	0.15560|0.15560	0.038000|0.038000	0.18304|0.18304	0.004000|0.004000	0.04260|0.04260	0.987000|0.987000	0.29603|0.29603	0.730000|0.730000	0.32425|0.32425	0.305000|0.305000	0.20034|0.20034	GAG|CAG	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	ENSG00000204525		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	9	0.00	0	C	NM_002117		31239109	31239109	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415537	ensembl	human	novel	69_37n	nonsense	1	80.00	4	SNP	0.749	A
HIVEP2	3097	genome.wustl.edu	37	6	143081364	143081364	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:143081364A>G	ENST00000367604.1	-	8	6700	c.6061T>C	c.(6061-6063)Tgt>Cgt	p.C2021R	HIVEP2_ENST00000367603.2_Missense_Mutation_p.C2021R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.C2021R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2021					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)		TCATCCATACAACTAGGTATG	0.478																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0													266.0	245.0	252.0					6																	143081364		1972	4170	6142	-	-	-	SO:0001583	missense	0			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.6061T>C	6.37:g.143081364A>G	ENSP00000356576:p.Cys2021Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C2021R	ENST00000367604.1	37	c.6061	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	A	8.163	0.790028	0.16258	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02216	4.39;4.39;4.39	6.07	-3.21	0.05140	.	0.482429	0.26627	N	0.023325	T	0.00552	0.0018	N	0.19112	0.55	0.19575	N	0.999966	B	0.21381	0.055	B	0.17433	0.018	T	0.39623	-0.9605	10	0.17832	T	0.49	0.3652	16.3146	0.82913	0.2139:0.695:0.0:0.091	.	2021	P31629	ZEP2_HUMAN	R	2021	ENSP00000356576:C2021R;ENSP00000356575:C2021R;ENSP00000012134:C2021R	ENSP00000012134:C2021R	C	-	1	0	HIVEP2	143123057	0.707000	0.27866	0.000000	0.03702	0.948000	0.59901	1.498000	0.35660	-0.765000	0.04645	0.477000	0.44152	TGT	HIVEP2	-	NULL	ENSG00000010818		0.478	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	186	0.00	0	A			143081364	143081364	-1	no_errors	ENST00000012134	ensembl	human	known	69_37n	missense	189	32.74	92	SNP	0.001	G
HMBOX1	79618	genome.wustl.edu	37	8	28827600	28827600	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:28827600T>G	ENST00000397358.3	+	4	768	c.64T>G	c.(64-66)Ttt>Gtt	p.F22V	HMBOX1_ENST00000558662.1_Missense_Mutation_p.F22V|HMBOX1_ENST00000403668.2_Missense_Mutation_p.F22V|HMBOX1_ENST00000355231.5_Missense_Mutation_p.F22V|HMBOX1_ENST00000519047.1_Missense_Mutation_p.F22V|HMBOX1_ENST00000524238.1_Missense_Mutation_p.F22V|HMBOX1_ENST00000523613.1_Missense_Mutation_p.F22V|HMBOX1_ENST00000444075.1_Missense_Mutation_p.F22V|HMBOX1_ENST00000287701.10_Missense_Mutation_p.F22V	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	22					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TGAACCCAGATTTACCATAGA	0.378																																						dbGAP											0													57.0	57.0	57.0					8																	28827600		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.64T>G	8.37:g.28827600T>G	ENSP00000380516:p.Phe22Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.F22V	ENST00000397358.3	37	c.64	CCDS6071.1	8	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546260	0.86022	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519662;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.82	5.82	0.92795	.	0.050457	0.85682	D	0.000000	T	0.79476	0.4452	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.76494	0.993;0.994;0.993;0.993;0.999;0.994	P;D;P;P;D;D	0.81914	0.88;0.927;0.88;0.88;0.995;0.927	T	0.81178	-0.1051	10	0.72032	D	0.01	-6.3104	16.171	0.81817	0.0:0.0:0.0:1.0	.	22;22;22;22;22;22	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	V	22	ENSP00000287701:F22V;ENSP00000401769:F22V;ENSP00000384261:F22V;ENSP00000429767:F22V;ENSP00000430059:F22V;ENSP00000380516:F22V;ENSP00000430110:F22V	ENSP00000287701:F22V	F	+	1	0	HMBOX1	28883519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.579000	0.82511	2.211000	0.71520	0.533000	0.62120	TTT	HMBOX1	-	NULL	ENSG00000147421		0.378	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	HGNC	protein_coding	OTTHUMT00000255267.4	21	0.00	0	T	NM_024567		28827600	28827600	+1	no_errors	ENST00000444075	ensembl	human	known	69_37n	missense	24	38.46	15	SNP	1.000	G
HMCN1	83872	genome.wustl.edu	37	1	185947023	185947023	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:185947023T>C	ENST00000271588.4	+	16	2705	c.2476T>C	c.(2476-2478)Tgg>Cgg	p.W826R	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.W826R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	826	Ig-like C2-type 5.				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						AACAATCAAATGGCGAAGATT	0.378																																						dbGAP											0													150.0	144.0	146.0					1																	185947023		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2476T>C	1.37:g.185947023T>C	ENSP00000271588:p.Trp826Arg	Somatic		WXS	Illumina GAIIx	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_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.W826R	ENST00000271588.4	37	c.2476	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109930	0.77210	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.96300	-3.97;-3.97	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99061	0.9678	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99060	1.0830	10	0.72032	D	0.01	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	210;826	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	R	826	ENSP00000271588:W826R;ENSP00000356462:W826R	ENSP00000271588:W826R	W	+	1	0	HMCN1	184213646	1.000000	0.71417	0.944000	0.38274	0.694000	0.40290	7.137000	0.77295	2.246000	0.74042	0.533000	0.62120	TGG	HMCN1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000143341		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	151	0.00	0	T	NM_031935		185947023	185947023	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	229	10.55	27	SNP	1.000	C
HMCN2	256158	genome.wustl.edu	37	9	133072322	133072322	+	IGR	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:133072322A>T								NCS1 (72739 upstream) : HMCN2 (187513 downstream)																							CTCTGCAGAAATCCAGCTGGC	0.627																																						dbGAP											0													54.0	65.0	61.0					9																	133072322		2087	4212	6299	-	-	-	SO:0001628	intergenic_variant	0																															9.37:g.133072322A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I741F		37	c.2221		9	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103570	0.37145	.	.	ENSG00000230938	ENST00000415566	.	.	.	4.96	0.0165	0.14108	.	.	.	.	.	T	0.45115	0.1326	L	0.47078	1.49	.	.	.	.	.	.	.	.	.	T	0.54556	-0.8276	5	0.59425	D	0.04	.	7.4378	0.27166	0.632:0.0:0.368:0.0	.	.	.	.	F	741	.	ENSP00000389272:I741F	I	+	1	0	RP11-88G17.6	132112143	0.006000	0.16342	0.523000	0.27875	0.165000	0.22458	0.187000	0.16998	-0.077000	0.12752	-0.290000	0.09829	ATC	HMCN2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000148357	0	0.627					HMCN2	HGNC			53	0.00	0	A			133072322	133072322	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415566	ensembl	human	novel	69_37n	missense	59	24.36	19	SNP	0.068	T
HMMR	3161	genome.wustl.edu	37	5	162917426	162917426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:162917426delA	ENST00000358715.3	+	17	2026	c.1990delA	c.(1990-1992)aaafs	p.K666fs	HMMR_ENST00000432118.2_Frame_Shift_Del_p.K580fs|HMMR_ENST00000393915.4_Frame_Shift_Del_p.K667fs|HMMR_ENST00000353866.3_Frame_Shift_Del_p.K651fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	666	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TCAGCTTGCTAAAAAAAAACA	0.308																																						dbGAP											0									,,,	16,16,4226		0,0,16,1,14,2098	55.0	58.0	57.0		,,,	-1.0	1.0	5		57	16,27,8209		0,0,16,5,17,4088	no	codingComplex,codingComplex,codingComplex,codingComplex	HMMR	NM_012485.2,NM_012484.2,NM_001142557.1,NM_001142556.1	,,,	0,0,32,6,31,6186	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5211,0.7515,0.5995	,,,	,,,	162917426	32,43,12435	2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1990delA	5.37:g.162917426delA	ENSP00000351554:p.Lys666fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Del	DEL	NULL	p.K667fs	ENST00000358715.3	37	c.1993	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.308	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	36	0.00	0	A	NM_012484		162917426	162917426	+1	no_errors	ENST00000393915	ensembl	human	known	69_37n	frame_shift_del	43	30.65	19	DEL	1.000	-
HOXB3	3213	genome.wustl.edu	37	17	46629396	46629396	+	Frame_Shift_Del	DEL	G	G	-	rs547096338		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:46629396delG	ENST00000470495.1	-	1	1888	c.441delC	c.(439-441)cccfs	p.P147fs	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.P147fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.P15fs|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.P147fs|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.P15fs			P14651	HXB3_HUMAN	homeobox B3	147					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TACCTGTGCCGGGGGAGTTGT	0.572																																						dbGAP											0													244.0	272.0	263.0					17																	46629396		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.441delC	17.37:g.46629396delG	ENSP00000417207:p.Pro147fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G148fs	ENST00000470495.1	37	c.441	CCDS11528.1	17																																																																																			HOXB3	-	NULL	ENSG00000120093		0.572	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	115	0.00	0	G			46629396	46629396	-1	no_errors	ENST00000311626	ensembl	human	known	69_37n	frame_shift_del	61	40.38	42	DEL	1.000	-
HRG	3273	genome.wustl.edu	37	3	186395438	186395438	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:186395438T>C	ENST00000232003.4	+	7	1424	c.1344T>C	c.(1342-1344)cgT>cgC	p.R448R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	448	His/Pro-rich (HRR).		R -> C (in dbSNP:rs1042445).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AAGGACCCCGTCCCTTCCATT	0.562																																						dbGAP											0													81.0	78.0	79.0					3																	186395438		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1344T>C	3.37:g.186395438T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK35|D3DNU7	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R448	ENST00000232003.4	37	c.1344	CCDS3280.1	3																																																																																			HRG	-	NULL	ENSG00000113905		0.562	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	47	0.00	0	T	NM_000412		186395438	186395438	+1	no_errors	ENST00000232003	ensembl	human	known	69_37n	silent	65	26.14	23	SNP	0.095	C
HS2ST1	9653	genome.wustl.edu	37	1	87538857	87538857	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:87538857T>C	ENST00000370550.5	+	2	726		c.e2+2		HS2ST1_ENST00000370551.4_Splice_Site|HS2ST1_ENST00000356813.4_Splice_Site|RP5-1052I5.2_ENST00000370548.2_Splice_Site	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CAAGATCAGGTAATTACCACT	0.353																																						dbGAP											0													116.0	107.0	110.0					1																	87538857		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.363+2T>C	1.37:g.87538857T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Splice_Site	SNP	-	e2+2	ENST00000370550.5	37	c.363+2	CCDS711.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158105	0.78114	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3828	0.66923	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HS2ST1	87311445	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	7.868000	0.87116	1.981000	0.57761	0.383000	0.25322	.	HS2ST1	-	-	ENSG00000153936		0.353	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS2ST1	HGNC	protein_coding	OTTHUMT00000028279.2	44	0.00	0	T	NM_012262	Intron	87538857	87538857	+1	no_errors	ENST00000370550	ensembl	human	known	69_37n	splice_site	50	30.56	22	SNP	1.000	C
HSD3B7	80270	genome.wustl.edu	37	16	30999275	30999275	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:30999275T>C	ENST00000297679.5	+	7	974	c.881T>C	c.(880-882)cTg>cCg	p.L294P	HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	294					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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCTACTGGCTGCTGGTGTTC	0.657																																						dbGAP											0													73.0	78.0	77.0					16																	30999275		2196	4297	6493	-	-	-	SO:0001583	missense	0			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.881T>C	16.37:g.30999275T>C	ENSP00000297679:p.Leu294Pro	Somatic		WXS	Illumina GAIIx	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.L294P	ENST00000297679.5	37	c.881	CCDS10698.1	16	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885139	0.72410	.	.	ENSG00000099377	ENST00000297679	D	0.85411	-1.98	5.1	5.1	0.69264	.	0.407546	0.26411	N	0.024536	D	0.91168	0.7218	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	D	0.92218	0.5782	10	0.87932	D	0	-15.6418	13.8722	0.63626	0.0:0.0:0.0:1.0	.	294	Q9H2F3	3BHS7_HUMAN	P	294	ENSP00000297679:L294P	ENSP00000297679:L294P	L	+	2	0	HSD3B7	30906776	1.000000	0.71417	0.983000	0.44433	0.901000	0.52897	5.135000	0.64777	1.914000	0.55421	0.533000	0.62120	CTG	HSD3B7	-	NULL	ENSG00000099377		0.657	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B7	HGNC	protein_coding	OTTHUMT00000255554.2	57	0.00	0	T			30999275	30999275	+1	no_errors	ENST00000297679	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	1.000	C
HSPG2	3339	genome.wustl.edu	37	1	22160416	22160416	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:22160416A>G	ENST00000374695.3	-	78	10802	c.10723T>C	c.(10723-10725)Ttg>Ctg	p.L3575L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3575	Ig-like C2-type 22.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ATCTGGGGCAAGGCTGAGAGG	0.547																																						dbGAP											0													66.0	49.0	54.0					1																	22160416		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10723T>C	1.37:g.22160416A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.L3575	ENST00000374695.3	37	c.10723	CCDS30625.1	1																																																																																			HSPG2	-	NULL	ENSG00000142798		0.547	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	56	0.00	0	A	NM_005529		22160416	22160416	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	silent	30	41.51	22	SNP	1.000	G
HUWE1	10075	genome.wustl.edu	37	X	53655570	53655570	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:53655570A>G	ENST00000342160.3	-	14	1573	c.1116T>C	c.(1114-1116)gaT>gaC	p.D372D	HUWE1_ENST00000262854.6_Splice_Site_p.D372D|HUWE1_ENST00000218328.8_Splice_Site_p.D372D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	372					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						CCATGGAAGGATCTACAAGGG	0.468																																						dbGAP											0													52.0	45.0	47.0					X																	53655570		2188	4269	6457	-	-	-	SO:0001630	splice_region_variant	0			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.1115-1T>C	X.37:g.53655570A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	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.D372	ENST00000342160.3	37	c.1116	CCDS35301.1	X																																																																																			HUWE1	-	superfamily_ARM-type_fold	ENSG00000086758		0.468	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	77	0.00	0	A	XM_497119	Silent	53655570	53655570	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	silent	116	17.14	24	SNP	1.000	G
IARS2	55699	genome.wustl.edu	37	1	220300110	220300110	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:220300110T>C	ENST00000302637.5	+	14	1866	c.1762T>C	c.(1762-1764)Ttg>Ctg	p.L588L	IARS2_ENST00000366922.1_Silent_p.L516L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	588					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CCCTGATGCCTTGGAATATGT	0.388																																						dbGAP											0													221.0	200.0	207.0					1																	220300110		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1762T>C	1.37:g.220300110T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.L588	ENST00000302637.5	37	c.1762	CCDS1523.1	1																																																																																			IARS2	-	pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-synt	ENSG00000067704		0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		161	0.00	0	T	NM_018060		220300110	220300110	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	silent	155	28.24	61	SNP	0.142	C
IDH3A	3419	genome.wustl.edu	37	15	78452522	78452522	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:78452522T>C	ENST00000299518.2	+	4	346	c.263T>C	c.(262-264)aTg>aCg	p.M88T	IDH3A_ENST00000558554.1_Missense_Mutation_p.M88T|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	88					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						AAAGAGTCCATGGATAAGAAC	0.468																																						dbGAP											0													71.0	65.0	67.0					15																	78452522		2196	4293	6489	-	-	-	SO:0001583	missense	0				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.263T>C	15.37:g.78452522T>C	ENSP00000299518:p.Met88Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW83|Q9H3X0	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.M88T	ENST00000299518.2	37	c.263	CCDS10297.1	15	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370886	0.82573	.	.	ENSG00000166411	ENST00000299518	T	0.67345	-0.26	5.62	5.62	0.85841	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	L	0.47716	1.5	0.80722	D	1	P;B	0.37688	0.605;0.249	P;B	0.48873	0.593;0.281	T	0.74172	-0.3751	10	0.87932	D	0	-28.9689	15.0195	0.71617	0.0:0.0:0.0:1.0	.	88;88	B4DSY4;P50213	.;IDH3A_HUMAN	T	88	ENSP00000299518:M88T	ENSP00000299518:M88T	M	+	2	0	IDH3A	76239577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.913000	0.87471	2.137000	0.66172	0.459000	0.35465	ATG	IDH3A	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000166411		0.468	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	HGNC	protein_coding	OTTHUMT00000289799.4	40	0.00	0	T	NM_005530		78452522	78452522	+1	no_errors	ENST00000299518	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	1.000	C
IDI1	3422	genome.wustl.edu	37	10	1088521	1088521	+	Intron	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:1088521T>A	ENST00000381344.3	-	4	704				IDI1_ENST00000491735.1_Intron|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1						cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		aaaaCCTTTTTATAGTATGTT	0.388																																						dbGAP											0													31.0	32.0	32.0					10																	1088521		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.537+50A>T	10.37:g.1088521T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.I110	ENST00000381344.3	37	c.330	CCDS7056.1	10																																																																																			IDI1	-	NULL	ENSG00000067064		0.388	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2	59	0.00	0	T	NM_004508		1088521	1088521	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000427898	ensembl	human	known	69_37n	silent	69	35.51	38	SNP	0.001	A
IFFO1	25900	genome.wustl.edu	37	12	6660141	6660141	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:6660141A>G	ENST00000396840.2	-	2	841	c.800T>C	c.(799-801)aTc>aCc	p.I267T	IFFO1_ENST00000356896.4_Missense_Mutation_p.I267T|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000336604.4_Missense_Mutation_p.I267T|IFFO1_ENST00000465801.1_5'UTR			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	267						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TTGCAGCTGGATCCGCACCGT	0.622																																						dbGAP											0													155.0	128.0	137.0					12																	6660141		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.800T>C	12.37:g.6660141A>G	ENSP00000380052:p.Ile267Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	NULL	p.I267T	ENST00000396840.2	37	c.800		12	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627190	0.28978	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.87571	-2.2;-2.18;-2.27	4.27	3.13	0.36017	.	0.452476	0.20795	N	0.085557	T	0.68668	0.3026	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.59627	-0.7419	10	0.02654	T	1	0.0034	9.4331	0.38622	0.9152:0.0:0.0848:0.0	.	267;267;267;267	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	267	ENSP00000337593:I267T;ENSP00000380052:I267T;ENSP00000349364:I267T	ENSP00000337593:I267T	I	-	2	0	IFFO1	6530402	0.991000	0.36638	0.115000	0.21578	0.978000	0.69477	6.451000	0.73481	0.694000	0.31654	0.379000	0.24179	ATC	IFFO1	-	NULL	ENSG00000010295		0.622	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1	62	0.00	0	A	NM_080730		6660141	6660141	-1	no_errors	ENST00000356896	ensembl	human	known	69_37n	missense	82	18.81	19	SNP	0.417	G
IFI16	3428	genome.wustl.edu	37	1	158990208	158990208	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:158990208A>G	ENST00000295809.7	+	6	1305	c.1050A>G	c.(1048-1050)caA>caG	p.Q350Q	IFI16_ENST00000430894.2_Silent_p.Q298Q|IFI16_ENST00000368132.3_Silent_p.Q350Q|IFI16_ENST00000359709.3_Silent_p.Q294Q|IFI16_ENST00000368131.4_Silent_p.Q350Q|IFI16_ENST00000340979.6_Silent_p.Q350Q|IFI16_ENST00000448393.2_Silent_p.Q350Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	350	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|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)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GGACAGGACAATGTCACAATA	0.358																																						dbGAP											0													102.0	108.0	106.0					1																	158990208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1050A>G	1.37:g.158990208A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.Q350	ENST00000295809.7	37	c.1050		1	.	.	.	.	.	.	.	.	.	.	A	2.872	-0.233670	0.05983	.	.	ENSG00000163565	ENST00000448393	.	.	.	2.64	0.149	0.14863	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35475	-0.9787	4	.	.	.	.	4.5615	0.12163	0.6788:0.0:0.3212:0.0	.	.	.	.	S	171	.	.	N	+	2	0	IFI16	157256832	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	0.595000	0.24029	-0.103000	0.12175	0.459000	0.35465	AAT	IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163565		0.358	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	76	0.00	0	A	NM_005531		158990208	158990208	+1	no_errors	ENST00000295809	ensembl	human	known	69_37n	silent	72	25.77	25	SNP	0.001	G
IGDCC4	57722	genome.wustl.edu	37	15	65702618	65702618	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:65702618A>G	ENST00000352385.2	-	3	670	c.461T>C	c.(460-462)gTg>gCg	p.V154A		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	154	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTTCTCCTCCACCGTCTGAGA	0.572																																						dbGAP											0													76.0	67.0	70.0					15																	65702618		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.461T>C	15.37:g.65702618A>G	ENSP00000319623:p.Val154Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HCE4	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V154A	ENST00000352385.2	37	c.461	CCDS10206.1	15	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362289	0.82353	.	.	ENSG00000103742	ENST00000352385	T	0.69926	-0.44	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064498	0.64402	D	0.000011	T	0.72020	0.3409	L	0.33339	1.005	0.53688	D	0.999976	D	0.76494	0.999	D	0.72625	0.978	T	0.70313	-0.4906	10	0.32370	T	0.25	-19.6935	13.8222	0.63329	1.0:0.0:0.0:0.0	.	154	Q8TDY8	IGDC4_HUMAN	A	154	ENSP00000319623:V154A	ENSP00000319623:V154A	V	-	2	0	IGDCC4	63489671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.374000	0.90133	2.084000	0.62774	0.533000	0.62120	GTG	IGDCC4	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000103742		0.572	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	34	0.00	0	A	NM_020962		65702618	65702618	-1	no_errors	ENST00000352385	ensembl	human	novel	69_37n	missense	42	31.15	19	SNP	1.000	G
IGLV5-45	28781	genome.wustl.edu	37	22	22730663	22730663	+	RNA	SNP	G	G	T	rs191752433		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:22730663G>T	ENST00000390296.2	+	0	186									immunoglobulin lambda variable 5-45																		GGTACCTACAGGATATACTGG	0.567																																						dbGAP											0													85.0	96.0	92.0					22																	22730663		2054	4208	6262	-	-	-			0			Z73670		22q11.2	2012-02-08			ENSG00000211650	ENSG00000211650		"""Immunoglobulins / IGL locus"""	5924	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151054		22.37:g.22730663G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R53M	ENST00000390296.2	37	c.158		22																																																																																			IGLV5-45	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211650		0.567	IGLV5-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV5-45	HGNC	IG_V_gene	OTTHUMT00000321114.2	73	0.00	0	G	NG_000002		22730663	22730663	+1	no_stop_codon	ENST00000390296	ensembl	human	known	69_37n	missense	60	31.03	27	SNP	0.000	T
IGSF9	57549	genome.wustl.edu	37	1	159904032	159904032	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:159904032delG	ENST00000368094.1	-	9	1249	c.1052delC	c.(1051-1053)ccafs	p.P351fs	IGSF9_ENST00000361509.3_Frame_Shift_Del_p.P335fs|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	351	Ig-like 4.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAGAGCAGTGGGGGGTTGGC	0.617																																						dbGAP											0													35.0	31.0	32.0					1																	159904032		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1052delC	1.37:g.159904032delG	ENSP00000357073:p.Pro351fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,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.P351fs	ENST00000368094.1	37	c.1052	CCDS44254.1	1																																																																																			IGSF9	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000085552		0.617	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	30	0.00	0	G	NM_020789		159904032	159904032	-1	no_errors	ENST00000368094	ensembl	human	known	69_37n	frame_shift_del	65	14.29	11	DEL	1.000	-
IKZF5	64376	genome.wustl.edu	37	10	124753556	124753556	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:124753556G>C	ENST00000368886.5	-	5	1320	c.1000C>G	c.(1000-1002)Cca>Gca	p.P334A	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGGGCACTTGGCTCACTGCTT	0.592																																						dbGAP											0													81.0	88.0	86.0					10																	124753556		2089	4217	6306	-	-	-	SO:0001583	missense	0			AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.1000C>G	10.37:g.124753556G>C	ENSP00000357881:p.Pro334Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P334A	ENST00000368886.5	37	c.1000	CCDS41574.1	10	.	.	.	.	.	.	.	.	.	.	G	9.754	1.168200	0.21621	.	.	ENSG00000095574	ENST00000368886	T	0.05382	3.45	6.03	6.03	0.97812	.	0.100986	0.64402	D	0.000001	T	0.06280	0.0162	N	0.14661	0.345	0.45747	D	0.998641	B	0.11235	0.004	B	0.08055	0.003	T	0.46205	-0.9208	10	0.42905	T	0.14	-19.4657	20.5568	0.99304	0.0:0.0:1.0:0.0	.	334	Q9H5V7	IKZF5_HUMAN	A	334	ENSP00000357881:P334A	ENSP00000357881:P334A	P	-	1	0	IKZF5	124743546	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	6.910000	0.75741	2.861000	0.98227	0.655000	0.94253	CCA	IKZF5	-	NULL	ENSG00000095574		0.592	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF5	HGNC	protein_coding	OTTHUMT00000050820.2	85	0.00	0	G	NM_022466		124753556	124753556	-1	no_errors	ENST00000368886	ensembl	human	known	69_37n	missense	74	21.28	20	SNP	1.000	C
IL17F	112744	genome.wustl.edu	37	6	52103684	52103684	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:52103684A>G	ENST00000336123.4	-	2	205	c.98T>C	c.(97-99)aTc>aCc	p.I33T		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	33					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TACTTTGGGGATTTTCCGAGC	0.478																																						dbGAP											0													66.0	72.0	70.0					6																	52103684		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.98T>C	6.37:g.52103684A>G	ENSP00000337432:p.Ile33Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.I33T	ENST00000336123.4	37	c.98	CCDS4938.1	6	.	.	.	.	.	.	.	.	.	.	A	4.980	0.182051	0.09495	.	.	ENSG00000112116	ENST00000336123	T	0.42513	0.97	4.99	-9.98	0.00438	.	2.143740	0.01365	N	0.012365	T	0.06554	0.0168	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06162	-1.0842	10	0.08837	T	0.75	-0.3886	7.8867	0.29655	0.5401:0.0:0.3089:0.151	.	33	Q96PD4	IL17F_HUMAN	T	33	ENSP00000337432:I33T	ENSP00000337432:I33T	I	-	2	0	IL17F	52211643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.604000	0.05667	-1.413000	0.02027	-0.347000	0.07816	ATC	IL17F	-	pfam_Interleukin-17	ENSG00000112116		0.478	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17F	HGNC	protein_coding	OTTHUMT00000040901.3	60	0.00	0	A	NM_052872		52103684	52103684	-1	no_errors	ENST00000336123	ensembl	human	known	69_37n	missense	80	12.09	11	SNP	0.000	G
IL1RAP	3556	genome.wustl.edu	37	3	190326897	190326897	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:190326897T>A	ENST00000412504.2	+	4	716	c.464T>A	c.(463-465)aTt>aAt	p.I155N	IL1RAP_ENST00000447382.1_Missense_Mutation_p.I155N|IL1RAP_ENST00000439062.1_Missense_Mutation_p.I155N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.I155N|IL1RAP_ENST00000443369.2_Missense_Mutation_p.I155N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.I155N|IL1RAP_ENST00000434491.1_Missense_Mutation_p.I14N|IL1RAP_ENST00000317757.3_Missense_Mutation_p.I155N|IL1RAP_ENST00000422940.1_Missense_Mutation_p.I155N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	155	Ig-like C2-type 2.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GAATATGGCATTCAGAGGATC	0.373																																						dbGAP											0													109.0	106.0	107.0					3																	190326897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.464T>A	3.37:g.190326897T>A	ENSP00000412053:p.Ile155Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.I155N	ENST00000412504.2	37	c.464	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	T	7.379	0.628485	0.14257	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;3.02;-1.19;-1.19	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.883721	0.10123	N	0.713207	T	0.63486	0.2515	N	0.16478	0.41	0.20638	N	0.999873	B;B;B;B	0.23937	0.094;0.003;0.001;0.014	B;B;B;B	0.27170	0.077;0.003;0.003;0.005	T	0.51276	-0.8726	10	0.15066	T	0.55	.	9.4442	0.38688	0.1683:0.0:0.0:0.8317	.	14;155;155;155	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;.;IL1AP_HUMAN;.	N	155;155;155;155;155;155;14;155;155	ENSP00000072516:I155N;ENSP00000408893:I155N;ENSP00000412053:I155N;ENSP00000401132:I155N;ENSP00000390541:I155N;ENSP00000409352:I155N;ENSP00000391899:I14N;ENSP00000387371:I155N;ENSP00000314807:I155N	ENSP00000072516:I155N	I	+	2	0	IL1RAP	191809591	0.058000	0.20735	0.826000	0.32828	0.082000	0.17680	1.496000	0.35638	2.243000	0.73865	0.528000	0.53228	ATT	IL1RAP	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000196083		0.373	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	96	0.00	0	T			190326897	190326897	+1	no_errors	ENST00000443369	ensembl	human	known	69_37n	missense	117	27.61	45	SNP	0.287	A
IFNL1	282618	genome.wustl.edu	37	19	39788881	39788881	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:39788881G>A	ENST00000333625.2	+	4	519	c.422G>A	c.(421-423)aGg>aAg	p.R141K		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	141					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										GCAGGGCCCAGGCCCCGGGGC	0.677																																						dbGAP											0													24.0	31.0	29.0					19																	39788881		2201	4297	6498	-	-	-	SO:0001583	missense	0			AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"""Interferons"""	18363	protein-coding gene	gene with protein product		607403	"""interleukin 29"", ""interleukin 29 (interferon, lambda 1)"""	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.422G>A	19.37:g.39788881G>A	ENSP00000329991:p.Arg141Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV25|Q17R34	Missense_Mutation	SNP	NULL	p.R141K	ENST00000333625.2	37	c.422	CCDS12531.1	19	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884687	0.33255	.	.	ENSG00000182393	ENST00000333625	T	0.30981	1.51	4.56	-3.96	0.04106	.	0.606658	0.15634	N	0.252243	T	0.23094	0.0558	M	0.80183	2.485	0.09310	N	1	B	0.31290	0.318	B	0.25291	0.059	T	0.17501	-1.0367	10	0.25751	T	0.34	-8.9978	2.3111	0.04186	0.427:0.1194:0.3324:0.1212	.	141	Q8IU54	IL29_HUMAN	K	141	ENSP00000329991:R141K	ENSP00000329991:R141K	R	+	2	0	IL29	44480721	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.260000	0.08708	-0.471000	0.06891	0.313000	0.20887	AGG	IL29	-	NULL	ENSG00000182393		0.677	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL29	HGNC	protein_coding	OTTHUMT00000463834.1	39	0.00	0	G	NM_172140		39788881	39788881	+1	no_errors	ENST00000333625	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	0.000	A
IL2RG	3561	genome.wustl.edu	37	X	70328515	70328515	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:70328515A>G	ENST00000374202.2	-	6	879	c.788T>C	c.(787-789)gTg>gCg	p.V263A	IL2RG_ENST00000374188.3_Intron|CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000456850.2_Missense_Mutation_p.V73A	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	263					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	AGAGATAACCACGGCTTCCAA	0.453									Severe Combined Immunodeficiency, X-linked																													dbGAP											0													50.0	40.0	44.0					X																	70328515		2202	4294	6496	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.788T>C	X.37:g.70328515A>G	ENSP00000363318:p.Val263Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5FC12	Missense_Mutation	SNP	pfam_IL6_recept-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.V263A	ENST00000374202.2	37	c.788	CCDS14406.1	X	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433926	0.43224	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000464642	D;D;D	0.97066	-4.15;-4.15;-4.23	4.87	3.71	0.42584	.	0.459833	0.20714	N	0.087027	D	0.97393	0.9147	M	0.72894	2.215	0.80722	D	1	P;D	0.76494	0.762;0.999	B;D	0.78314	0.445;0.991	D	0.95138	0.8261	10	0.31617	T	0.26	-12.276	6.1745	0.20437	0.8861:0.0:0.1139:0.0	.	73;263	Q5FC12;P31785	.;IL2RG_HUMAN	A	263;73;219	ENSP00000363318:V263A;ENSP00000388967:V73A;ENSP00000425233:V219A	ENSP00000363318:V263A	V	-	2	0	IL2RG	70245240	0.998000	0.40836	0.995000	0.50966	0.375000	0.29983	2.436000	0.44819	0.694000	0.31654	0.486000	0.48141	GTG	IL2RG	-	NULL	ENSG00000147168		0.453	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RG	HGNC	protein_coding	OTTHUMT00000057102.2	75	0.00	0	A			70328515	70328515	-1	no_errors	ENST00000374202	ensembl	human	known	69_37n	missense	87	21.62	24	SNP	0.947	G
INPP5F	22876	genome.wustl.edu	37	10	121582587	121582587	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:121582587T>C	ENST00000361976.2	+	18	2203	c.2037T>C	c.(2035-2037)ccT>ccC	p.P679P	INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Silent_p.P69P	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTTTAGGCCCTGAACCCACTC	0.368																																						dbGAP											0													125.0	122.0	123.0					10																	121582587		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.2037T>C	10.37:g.121582587T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.P679	ENST00000361976.2	37	c.2037	CCDS7616.1	10																																																																																			INPP5F	-	pfam_Inositol_phosphatase	ENSG00000198825		0.368	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	134	0.00	0	T	NM_014937		121582587	121582587	+1	no_errors	ENST00000361976	ensembl	human	known	69_37n	silent	147	25.76	51	SNP	0.987	C
INTS1	26173	genome.wustl.edu	37	7	1526286	1526286	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:1526286A>G	ENST00000404767.3	-	22	3036	c.2951T>C	c.(2950-2952)gTg>gCg	p.V984A	INTS1_ENST00000389470.4_Missense_Mutation_p.V1127A	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	984					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)		GCGGGAGGCCACCTGGGAGGA	0.647																																						dbGAP											0													17.0	23.0	21.0					7																	1526286		2064	4191	6255	-	-	-	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2951T>C	7.37:g.1526286A>G	ENSP00000385722:p.Val984Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.V1127A	ENST00000404767.3	37	c.3380	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	A	9.640	1.138618	0.21123	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.43294	0.95;0.97	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	L	0.33485	1.01	0.58432	D	0.999997	B;B	0.19706	0.038;0.038	B;B	0.27076	0.076;0.076	T	0.07539	-1.0767	10	0.07644	T	0.81	.	13.9267	0.63966	1.0:0.0:0.0:0.0	.	1133;984	A4D213;Q8N201	.;INT1_HUMAN	A	984;1127	ENSP00000385722:V984A;ENSP00000374121:V1127A	ENSP00000374121:V1127A	V	-	2	0	INTS1	1492812	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.172000	0.58243	1.706000	0.51276	0.533000	0.62120	GTG	INTS1	-	NULL	ENSG00000164880		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	29	0.00	0	A			1526286	1526286	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	missense	14	50.00	14	SNP	1.000	G
INTS2	57508	genome.wustl.edu	37	17	59969042	59969042	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:59969042A>C	ENST00000444766.3	-	14	1806	c.1731T>G	c.(1729-1731)atT>atG	p.I577M	INTS2_ENST00000251334.6_Missense_Mutation_p.I569M	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	577					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GCTGTCTATAAATCCAATCCT	0.313																																						dbGAP											0													59.0	58.0	58.0					17																	59969042		1843	4085	5928	-	-	-	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1731T>G	17.37:g.59969042A>C	ENSP00000414237:p.Ile577Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD3	Missense_Mutation	SNP	NULL	p.I577M	ENST00000444766.3	37	c.1731	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	A	10.65	1.409137	0.25378	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.55760	0.5	5.31	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.72118	2.19	0.58432	D	0.999997	D	0.60575	0.988	D	0.72338	0.977	T	0.62845	-0.6768	9	.	.	.	-18.5673	5.7537	0.18160	0.6647:0.0:0.0742:0.2612	.	577	Q9H0H0	INT2_HUMAN	M	577;576	ENSP00000414237:I577M	.	I	-	3	3	INTS2	57323824	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	2.057000	0.41365	0.927000	0.37143	0.533000	0.62120	ATT	INTS2	-	NULL	ENSG00000108506		0.313	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	86	0.00	0	A	NM_020748		59969042	59969042	-1	no_errors	ENST00000444766	ensembl	human	known	69_37n	missense	107	33.54	54	SNP	1.000	C
INTS6	26512	genome.wustl.edu	37	13	51957870	51957870	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:51957870C>T	ENST00000311234.4	-	8	1374	c.902G>A	c.(901-903)cGt>cAt	p.R301H	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000490542.1_5'UTR|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.R123H|INTS6_ENST00000398119.2_Missense_Mutation_p.R288H	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	301					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATGAGATGTACGAGGTGGCTA	0.358																																						dbGAP											0													97.0	95.0	95.0					13																	51957870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.902G>A	13.37:g.51957870C>T	ENSP00000310260:p.Arg301His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.R301H	ENST00000311234.4	37	c.902	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974154	0.74246	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000483746	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.93241	3.395	0.80722	D	1	D	0.55605	0.972	B	0.43838	0.433	T	0.69654	-0.5087	10	0.87932	D	0	-5.7406	17.925	0.88980	0.0:1.0:0.0:0.0	.	301	Q9UL03	INT6_HUMAN	H	301;288;123;20	ENSP00000310260:R301H;ENSP00000381187:R288H;ENSP00000419871:R123H;ENSP00000418026:R20H	ENSP00000310260:R301H	R	-	2	0	INTS6	50855871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.548000	0.85928	0.655000	0.94253	CGT	INTS6	-	NULL	ENSG00000102786		0.358	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	63	0.00	0	C	NM_012141		51957870	51957870	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	missense	51	37.80	31	SNP	1.000	T
INTS8	55656	genome.wustl.edu	37	8	95861747	95861747	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:95861747G>A	ENST00000523731.1	+	11	1451	c.1318G>A	c.(1318-1320)Gct>Act	p.A440T	INTS8_ENST00000447247.1_Missense_Mutation_p.A440T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	440					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGGAAACATGGCTGCTTTTCT	0.269																																						dbGAP											0													55.0	63.0	60.0					8																	95861747		2196	4284	6480	-	-	-	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1318G>A	8.37:g.95861747G>A	ENSP00000430338:p.Ala440Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Nonsense_Mutation	SNP	NULL	p.W261*	ENST00000523731.1	37	c.783	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.369135|4.369135	0.82463|0.82463	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.046217|.	0.85682|.	D|.	0.000000|.	T|.	0.70833|.	0.3269|.	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999998|0.999998	P;D|.	0.54207|.	0.557;0.965|.	B;P|.	0.55871|.	0.295;0.786|.	T|.	0.66044|.	-0.6021|.	9|.	0.62326|.	D|.	0.03|.	-17.6153|-17.6153	19.4714|19.4714	0.94965|0.94965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	440;440|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	T|X	440|261	.|.	ENSP00000343274:A440T|.	A|W	+|+	1|3	0|0	INTS8|INTS8	95930923|95930923	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.134000|8.134000	0.89606|0.89606	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GCT|TGG	INTS8	-	NULL	ENSG00000164941		0.269	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	60	0.00	0	G	NM_017864		95861747	95861747	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520526	ensembl	human	novel	69_37n	nonsense	69	23.33	21	SNP	1.000	A
INTS8	55656	genome.wustl.edu	37	8	95888477	95888477	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:95888477T>C	ENST00000523731.1	+	25	2924	c.2791T>C	c.(2791-2793)Tac>Cac	p.Y931H	INTS8_ENST00000447247.1_Missense_Mutation_p.Y914H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	931					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CTACTACGACTACATATGGGA	0.299																																						dbGAP											0													173.0	158.0	163.0					8																	95888477		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2791T>C	8.37:g.95888477T>C	ENSP00000430338:p.Tyr931His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.Y931H	ENST00000523731.1	37	c.2791	CCDS34925.1	8	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583980	0.86748	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	T;T	0.32753	1.44;1.44	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	L	0.56769	1.78	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.51834	-0.8655	10	0.62326	D	0.03	-22.6256	15.9644	0.79956	0.0:0.0:0.0:1.0	.	931	Q75QN2	INT8_HUMAN	H	931;914	ENSP00000430338:Y931H;ENSP00000398203:Y914H	ENSP00000398203:Y914H	Y	+	1	0	INTS8	95957653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.582000	0.82546	2.170000	0.68504	0.482000	0.46254	TAC	INTS8	-	NULL	ENSG00000164941		0.299	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	136	0.00	0	T	NM_017864		95888477	95888477	+1	no_errors	ENST00000523731	ensembl	human	known	69_37n	missense	203	13.62	32	SNP	1.000	C
IQGAP3	128239	genome.wustl.edu	37	1	156498340	156498340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:156498340delT	ENST00000361170.2	-	36	4644	c.4634delA	c.(4633-4635)aagfs	p.K1545fs	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1545					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAAGACACCCTTTTCCAGGAG	0.507																																						dbGAP											0													80.0	80.0	80.0					1																	156498340		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4634delA	1.37:g.156498340delT	ENSP00000354451:p.Lys1545fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3H8	Frame_Shift_Del	DEL	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_RasGAP	p.K1545fs	ENST00000361170.2	37	c.4634	CCDS1144.1	1																																																																																			IQGAP3	-	pfam_RasGAP_C	ENSG00000183856		0.507	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	43	0.00	0	T	NM_178229		156498340	156498340	-1	no_errors	ENST00000361170	ensembl	human	known	69_37n	frame_shift_del	72	14.94	13	DEL	1.000	-
IRF5	3663	genome.wustl.edu	37	7	128586562	128586563	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:128586562_128586563insC	ENST00000402030.2	+	4	465_466	c.393_394insC	c.(394-396)cccfs	p.P132fs	IRF5_ENST00000249375.4_Frame_Shift_Ins_p.P132fs|IRF5_ENST00000473745.1_Frame_Shift_Ins_p.P132fs|IRF5_ENST00000477535.1_Frame_Shift_Ins_p.P132fs|IRF5_ENST00000357234.5_Frame_Shift_Ins_p.P132fs	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	132					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E134fs*1(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CAGACTCCCAGCCCCCTGAGGA	0.569																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.398dupC	7.37:g.128586567_128586567dupC	ENSP00000385352:p.Pro132fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Frame_Shift_Ins	INS	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.E133fs	ENST00000402030.2	37	c.393_394	CCDS5808.1	7																																																																																			IRF5	-	NULL	ENSG00000128604		0.569	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	HGNC	protein_coding	OTTHUMT00000350934.1	167	0.00	0	-	NM_001098627		128586562	128586563	+1	no_errors	ENST00000357234	ensembl	human	known	69_37n	frame_shift_ins	157	16.49	31	INS	1.000:0.996	C
IRS4	8471	genome.wustl.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						dbGAP											0										32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				-	-	-	SO:0001589	frameshift_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.K592fs	ENST00000372129.2	37	c.1773_1772	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	150	0.00	0	-	NM_003604		107977802	107977803	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	frame_shift_ins	160	23.81	50	INS	0.031:0.016	C
ITGB6	3694	genome.wustl.edu	37	2	161055738	161055738	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:161055738A>G	ENST00000283249.2	-	2	330	c.93T>C	c.(91-93)tgT>tgC	p.C31C	ITGB6_ENST00000409967.2_Silent_p.C31C|ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000428609.2_Intron|ITGB6_ENST00000409872.1_Silent_p.C31C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	31					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GGCAGTCTTCACAGGTTTCTG	0.453																																						dbGAP											0													90.0	87.0	88.0					2																	161055738		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.93T>C	2.37:g.161055738A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.C31	ENST00000283249.2	37	c.93	CCDS2212.1	2																																																																																			ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000115221		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	71	0.00	0	A	NM_000888		161055738	161055738	-1	no_errors	ENST00000283249	ensembl	human	known	69_37n	silent	98	27.21	37	SNP	0.998	G
ITGB8	3696	genome.wustl.edu	37	7	20418860	20418860	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:20418860T>C	ENST00000222573.4	+	4	1259	c.575T>C	c.(574-576)gTt>gCt	p.V192A	ITGB8_ENST00000537992.1_Missense_Mutation_p.V57A|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	192	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GGCTCATACGTTGATAAAACA	0.338																																						dbGAP											0													103.0	102.0	102.0					7																	20418860		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.575T>C	7.37:g.20418860T>C	ENSP00000222573:p.Val192Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D133|B4DHD4	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.V192A	ENST00000222573.4	37	c.575	CCDS5370.1	7	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427605	0.83667	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.95724	-3.79;-3.79	5.82	4.67	0.58626	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.084915	0.49916	N	0.000137	D	0.97025	0.9028	M	0.71920	2.185	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	D	0.96905	0.9663	10	0.87932	D	0	-17.6078	11.549	0.50711	0.0:0.0697:0.0:0.9303	.	192;192	P26012;Q9BUG9	ITB8_HUMAN;.	A	57;192	ENSP00000441561:V57A;ENSP00000222573:V192A	ENSP00000222573:V192A	V	+	2	0	ITGB8	20385385	1.000000	0.71417	0.982000	0.44146	0.843000	0.47879	8.005000	0.88553	1.032000	0.39892	0.528000	0.53228	GTT	ITGB8	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000105855		0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB8	HGNC	protein_coding	OTTHUMT00000059915.3	126	0.00	0	T	NM_002214		20418860	20418860	+1	no_errors	ENST00000222573	ensembl	human	known	69_37n	missense	100	39.16	65	SNP	1.000	C
ITIH6	347365	genome.wustl.edu	37	X	54817417	54817417	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:54817417C>T	ENST00000218436.6	-	4	498	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	ITIH6_ENST00000498398.1_5'Flank	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	157					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGGTACTGGCCCTGGTGCCGC	0.572													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14899	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													74.0	59.0	64.0					X																	54817417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.469G>A	X.37:g.54817417C>T	ENSP00000218436:p.Gly157Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G157S	ENST00000218436.6	37	c.469	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615517	0.46631	.	.	ENSG00000102313	ENST00000218436	T	0.03663	3.85	4.92	4.05	0.47172	.	0.000000	0.64402	U	0.000001	T	0.12305	0.0299	M	0.62266	1.93	0.26876	N	0.967634	P	0.50443	0.935	P	0.60173	0.87	T	0.01432	-1.1356	10	0.62326	D	0.03	.	11.5284	0.50593	0.0:0.9081:0.0:0.0919	.	157	Q6UXX5	ITH5L_HUMAN	S	157	ENSP00000218436:G157S	ENSP00000218436:G157S	G	-	1	0	ITIH5L	54834142	1.000000	0.71417	0.001000	0.08648	0.031000	0.12232	6.397000	0.73239	0.874000	0.35823	-0.263000	0.10527	GGC	ITIH6	-	NULL	ENSG00000102313		0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	87	0.00	0	C	NM_198510		54817417	54817417	-1	no_errors	ENST00000218436	ensembl	human	known	69_37n	missense	110	18.52	25	SNP	0.568	T
ITPR2	3709	genome.wustl.edu	37	12	26703232	26703232	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:26703232A>T	ENST00000381340.3	-	37	5437	c.5021T>A	c.(5020-5022)aTt>aAt	p.I1674N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1674					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)	TGTCTGAAGAATTTTAATGCA	0.289																																						dbGAP											0													81.0	73.0	75.0					12																	26703232		1785	4060	5845	-	-	-	SO:0001583	missense	0			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.5021T>A	12.37:g.26703232A>T	ENSP00000370744:p.Ile1674Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.I1674N	ENST00000381340.3	37	c.5021	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548722	0.86127	.	.	ENSG00000123104	ENST00000381340	T	0.70749	-0.51	5.14	5.14	0.70334	.	0.047113	0.85682	D	0.000000	T	0.80742	0.4681	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	P	0.62649	0.905	T	0.83192	-0.0083	10	0.87932	D	0	.	15.288	0.73843	1.0:0.0:0.0:0.0	.	1674	Q14571	ITPR2_HUMAN	N	1674	ENSP00000370744:I1674N	ENSP00000370744:I1674N	I	-	2	0	ITPR2	26594499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.673000	0.91186	2.076000	0.62316	0.460000	0.39030	ATT	ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.289	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	109	0.00	0	A	NM_002223		26703232	26703232	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	184	22.36	53	SNP	1.000	T
ITSN2	50618	genome.wustl.edu	37	2	24535098	24535098	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:24535098A>G	ENST00000355123.4	-	5	778	c.335T>C	c.(334-336)tTa>tCa	p.L112S	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Missense_Mutation_p.L112S|ITSN2_ENST00000406921.3_Missense_Mutation_p.L112S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	112					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)					AGCAGAAATTAATGGAGAAAA	0.358																																						dbGAP											0													96.0	92.0	93.0					2																	24535098		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.335T>C	2.37:g.24535098A>G	ENSP00000347244:p.Leu112Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	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.L112S	ENST00000355123.4	37	c.335	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	A	8.877	0.950592	0.18431	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.60797	0.18;0.16;0.18;0.63;0.93;1.51	5.07	5.07	0.68467	.	0.000000	0.29417	U	0.012208	T	0.47116	0.1428	N	0.24115	0.695	0.40711	D	0.982575	P;P;P;B	0.38827	0.649;0.649;0.649;0.023	B;B;P;B	0.44946	0.184;0.242;0.465;0.124	T	0.38993	-0.9635	10	0.06365	T	0.9	.	14.9724	0.71243	1.0:0.0:0.0:0.0	.	112;112;112;112	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	S	112;112;112;111;112;112;98	ENSP00000354561:L112S;ENSP00000347244:L112S;ENSP00000370250:L112S;ENSP00000384499:L112S;ENSP00000391224:L112S;ENSP00000391715:L98S	ENSP00000347244:L112S	L	-	2	0	ITSN2	24388602	0.997000	0.39634	0.996000	0.52242	0.989000	0.77384	5.648000	0.67930	2.266000	0.75297	0.533000	0.62120	TTA	ITSN2	-	NULL	ENSG00000198399		0.358	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	66	0.00	0	A	NM_006277		24535098	24535098	-1	no_errors	ENST00000355123	ensembl	human	known	69_37n	missense	53	41.76	38	SNP	0.983	G
JRKL	8690	genome.wustl.edu	37	11	96124811	96124811	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:96124811C>T	ENST00000332349.4	+	2	1245	c.998C>T	c.(997-999)aCg>aTg	p.T333M	CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.T333M|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	333	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		gtcatAGCAACGATGAAGAGA	0.408																																						dbGAP											0													69.0	64.0	66.0					11																	96124811		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.998C>T	11.37:g.96124811C>T	ENSP00000333350:p.Thr333Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.T333M	ENST00000332349.4	37	c.998	CCDS8308.1	11	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496468	0.26861	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.46451	0.87;0.87	4.44	2.51	0.30379	.	0.173425	0.27495	N	0.019108	T	0.40886	0.1135	M	0.71581	2.175	0.09310	N	1	P	0.36110	0.537	B	0.38458	0.274	T	0.35525	-0.9785	10	0.54805	T	0.06	-5.1	7.6924	0.28575	0.0:0.785:0.0:0.215	.	333	Q9Y4A0	JERKL_HUMAN	M	333	ENSP00000333350:T333M;ENSP00000389989:T333M	ENSP00000333350:T333M	T	+	2	0	JRKL	95764459	0.018000	0.18449	0.342000	0.25602	0.962000	0.63368	1.126000	0.31344	0.986000	0.38683	0.313000	0.20887	ACG	JRKL	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000183340		0.408	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRKL	HGNC	protein_coding	OTTHUMT00000337775.2	43	0.00	0	C	NM_003772		96124811	96124811	+1	no_errors	ENST00000332349	ensembl	human	known	69_37n	missense	42	27.59	16	SNP	0.119	T
KAT2A	2648	genome.wustl.edu	37	17	40265785	40265785	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:40265785C>T	ENST00000225916.5	-	18	2449	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	799	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGCGATGACCCGCTGCAGGTC	0.617																																						dbGAP											0													33.0	35.0	34.0					17																	40265785		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2396G>A	17.37:g.40265785C>T	ENSP00000225916:p.Arg799Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.R799Q	ENST00000225916.5	37	c.2396	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.942086	0.97128	.	.	ENSG00000108773	ENST00000225916	T	0.18174	2.23	5.03	5.03	0.67393	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.37652	0.1011	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13442	-1.0509	10	0.72032	D	0.01	-21.4575	18.4301	0.90622	0.0:1.0:0.0:0.0	.	799	Q92830	KAT2A_HUMAN	Q	799	ENSP00000225916:R799Q	ENSP00000225916:R799Q	R	-	2	0	KAT2A	37519311	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.773000	0.85462	2.360000	0.80028	0.556000	0.70494	CGG	KAT2A	-	pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	ENSG00000108773		0.617	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	31	0.00	0	C	NM_021078		40265785	40265785	-1	no_errors	ENST00000225916	ensembl	human	known	69_37n	missense	7	55.56	10	SNP	1.000	T
KBTBD6	89890	genome.wustl.edu	37	13	41704703	41704703	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:41704703A>T	ENST00000379485.1	-	1	2179	c.1945T>A	c.(1945-1947)Ttc>Atc	p.F649I	KBTBD6_ENST00000499385.2_Missense_Mutation_p.F583I	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	649										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGCTCACTGAATCCACCTAAG	0.468																																						dbGAP											0													104.0	97.0	99.0					13																	41704703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1945T>A	13.37:g.41704703A>T	ENSP00000368799:p.Phe649Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.F649I	ENST00000379485.1	37	c.1945	CCDS9376.1	13	.	.	.	.	.	.	.	.	.	.	a	12.67	2.008920	0.35415	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.74106	-0.74;-0.81	3.71	2.54	0.30619	.	0.269956	0.30401	N	0.009708	T	0.56543	0.1992	N	0.24115	0.695	0.30067	N	0.810405	B;B	0.33171	0.4;0.278	B;B	0.33960	0.173;0.058	T	0.57797	-0.7749	10	0.46703	T	0.11	.	6.9384	0.24478	0.8812:0.0:0.1188:0.0	.	583;649	F5GZN7;Q86V97	.;KBTB6_HUMAN	I	649;583	ENSP00000368799:F649I;ENSP00000444326:F583I	ENSP00000368799:F649I	F	-	1	0	KBTBD6	40602703	0.480000	0.25933	0.998000	0.56505	0.971000	0.66376	0.696000	0.25541	1.686000	0.51046	0.374000	0.22700	TTC	KBTBD6	-	NULL	ENSG00000165572		0.468	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	98	0.00	0	A	NM_152903		41704703	41704703	-1	no_errors	ENST00000379485	ensembl	human	known	69_37n	missense	101	12.93	15	SNP	0.980	T
KBTBD7	84078	genome.wustl.edu	37	13	41767525	41767525	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:41767525T>C	ENST00000379483.3	-	1	1177	c.869A>G	c.(868-870)tAc>tGc	p.Y290C		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	290										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCCAGGCAGTACTTCTTCAC	0.537																																						dbGAP											0													30.0	27.0	28.0					13																	41767525		2202	4279	6481	-	-	-	SO:0001583	missense	0			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.869A>G	13.37:g.41767525T>C	ENSP00000368797:p.Tyr290Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y290C	ENST00000379483.3	37	c.869	CCDS9377.1	13	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404621	0.42613	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.73681	-0.77	4.9	4.9	0.64082	.	0.356915	0.26207	U	0.025706	T	0.76652	0.4017	L	0.46157	1.445	0.41900	D	0.990417	D	0.69078	0.997	P	0.55667	0.781	T	0.76375	-0.2982	10	0.38643	T	0.18	.	12.496	0.55929	0.0:0.0:0.0:1.0	.	290	Q8WVZ9	KBTB7_HUMAN	C	290;192	ENSP00000368797:Y290C	ENSP00000368797:Y290C	Y	-	2	0	KBTBD7	40665525	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.520000	0.73773	1.823000	0.53134	0.455000	0.32223	TAC	KBTBD7	-	pirsf_Kelch-like_gigaxonin	ENSG00000120696		0.537	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	55	0.00	0	T	NM_032138		41767525	41767525	-1	no_errors	ENST00000379483	ensembl	human	known	69_37n	missense	76	12.64	11	SNP	1.000	C
KCNH3	23416	genome.wustl.edu	37	12	49948243	49948243	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:49948243G>A	ENST00000257981.6	+	11	2302	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	681					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGCACGACAGCCTTGCGCTG	0.662																																						dbGAP											0													66.0	64.0	65.0					12																	49948243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2042G>A	12.37:g.49948243G>A	ENSP00000257981:p.Ser681Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.S681N	ENST00000257981.6	37	c.2042	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514505	0.85389	.	.	ENSG00000135519	ENST00000257981	D	0.92647	-3.08	4.81	4.81	0.61882	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.56097	D	0.000029	D	0.88239	0.6383	N	0.08118	0	0.38480	D	0.947695	D	0.54397	0.966	P	0.55667	0.781	D	0.90169	0.4234	10	0.87932	D	0	.	11.2809	0.49195	0.0:0.0:0.8173:0.1827	.	681	Q9ULD8	KCNH3_HUMAN	N	681	ENSP00000257981:S681N	ENSP00000257981:S681N	S	+	2	0	KCNH3	48234510	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	4.825000	0.62708	2.628000	0.89032	0.563000	0.77884	AGC	KCNH3	-	pfam_cNMP-bd_dom,smart_cNMP-bd_dom	ENSG00000135519		0.662	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	33	0.00	0	G	NM_012284		49948243	49948243	+1	no_errors	ENST00000257981	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	A
KCNJ9	3765	genome.wustl.edu	37	1	160054403	160054403	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:160054403T>A	ENST00000368088.3	+	2	825	c.583T>A	c.(583-585)Ttg>Atg	p.L195M		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	195					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTGGGCGACTTGCGCTCCTC	0.682																																						dbGAP											0													24.0	22.0	23.0					1																	160054403		2202	4299	6501	-	-	-	SO:0001583	missense	0			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.583T>A	1.37:g.160054403T>A	ENSP00000357067:p.Leu195Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JW75	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.3	p.L195M	ENST00000368088.3	37	c.583	CCDS1194.1	1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420208	0.62622	.	.	ENSG00000162728	ENST00000368088	D	0.95756	-3.8	4.12	0.948	0.19561	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.64402	D	0.000014	D	0.93618	0.7962	L	0.52011	1.625	0.45777	D	0.998666	D	0.89917	1.0	D	0.97110	1.0	D	0.90180	0.4242	10	0.22706	T	0.39	.	8.5272	0.33313	0.0:0.7256:0.0:0.2744	.	195	Q92806	IRK9_HUMAN	M	195	ENSP00000357067:L195M	ENSP00000357067:L195M	L	+	1	2	KCNJ9	158321027	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.598000	0.46223	0.012000	0.14892	-0.345000	0.07892	TTG	KCNJ9	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000162728		0.682	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	23	0.00	0	T	NM_004983		160054403	160054403	+1	no_errors	ENST00000368088	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	A
KCNMA1	3778	genome.wustl.edu	37	10	78651290	78651290	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:78651290T>C	ENST00000286628.8	-	26	3334	c.3335A>G	c.(3334-3336)gAc>gGc	p.D1112G	KCNMA1_ENST00000372440.1_Missense_Mutation_p.D1054G|KCNMA1_ENST00000286627.5_Missense_Mutation_p.D1054G|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D1081G|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D1095G|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D1112G|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D1115G|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D1116G	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1112					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CACCCCTAAGTCCGCAAATGG	0.567																																						dbGAP											0													36.0	33.0	34.0					10																	78651290		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3335A>G	10.37:g.78651290T>C	ENSP00000286628:p.Asp1112Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.D1116G	ENST00000286628.8	37	c.3347		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.401|7.401	0.632777|0.632777	0.14322|0.14322	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	D;D;D;D;D;D;D;D;D|.	0.83992|.	-1.77;-1.79;-1.75;-1.75;-1.79;-1.77;-1.75;-1.76;-1.77|.	5.49|5.49	4.35|4.35	0.52113|0.52113	.|.	0.093649|.	0.64402|.	D|.	0.000001|.	T|T	0.34106|0.34106	0.0886|0.0886	N|N	0.11064|0.11064	0.09|0.09	0.53005|0.53005	D|D	0.999961|0.999961	B;B;B;B;B;B;B;B|.	0.24823|.	0.112;0.0;0.0;0.0;0.009;0.0;0.001;0.0|.	B;B;B;B;B;B;B;B|.	0.31946|.	0.138;0.003;0.007;0.001;0.03;0.002;0.007;0.002|.	T|T	0.09314|0.09314	-1.0680|-1.0680	10|5	0.32370|.	T|.	0.25|.	-19.1146|-19.1146	8.945|8.945	0.35753|0.35753	0.1247:0.0:0.1306:0.7446|0.1247:0.0:0.1306:0.7446	.|.	1083;1084;1095;1112;1054;865;1115;1081|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	G|A	1054;991;1047;1086;1049;1081;1054;1086;1116;1115;1095;865|1005	ENSP00000361517:D1054G;ENSP00000361485:D991G;ENSP00000361514:D1047G;ENSP00000396608:D1086G;ENSP00000361520:D1081G;ENSP00000286627:D1054G;ENSP00000385552:D1116G;ENSP00000346321:D1115G;ENSP00000385806:D1095G|.	ENSP00000286627:D1054G|.	D|T	-|-	2|1	0|0	KCNMA1|KCNMA1	78321296|78321296	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.005000|0.005000	0.04900|0.04900	7.698000|7.698000	0.84413|0.84413	0.910000|0.910000	0.36722|0.36722	-0.336000|-0.336000	0.08194|0.08194	GAC|ACT	KCNMA1	-	NULL	ENSG00000156113		0.567	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	30	0.00	0	T	NM_002247		78651290	78651290	-1	no_errors	ENST00000406533	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	C
KCNMA1	3778	genome.wustl.edu	37	10	78704601	78704601	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:78704601G>C	ENST00000286628.8	-	23	2831	c.2832C>G	c.(2830-2832)atC>atG	p.I944M	KCNMA1_ENST00000372440.1_Missense_Mutation_p.I886M|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.I886M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.I886M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.I927M|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.I944M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.I947M|RP11-443A13.5_ENST00000608791.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.I948M|RP11-443A13.5_ENST00000600782.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	944					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GTGACGCCAAGATGCATTCCT	0.438																																						dbGAP											0													188.0	148.0	162.0					10																	78704601		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2832C>G	10.37:g.78704601G>C	ENSP00000286628:p.Ile944Met	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.I948M	ENST00000286628.8	37	c.2844		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.23|18.23|18.23	3.578139|3.578139|3.578139	0.65878|0.65878|0.65878	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208|ENST00000372403	T;T;T;T;T;T;T;T;T|.|.	0.56776|.|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.|.	5.74|5.74|5.74	5.74|5.74|5.74	0.90152|0.90152|0.90152	NAD(P)-binding domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75774|0.75774|0.75774	0.3895|0.3895|0.3895	M|M|M	0.80982|0.80982|0.80982	2.52|2.52|2.52	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;D;D;D;D;D;D;D|.|.	0.89917|.|.	0.921;0.984;0.99;0.984;1.0;0.959;0.999;0.984|.|.	P;D;D;D;D;P;D;D|.|.	0.91635|.|.	0.813;0.935;0.971;0.933;0.999;0.896;0.982;0.935|.|.	T|T|T	0.76623|0.76623|0.76623	-0.2891|-0.2891|-0.2891	10|5|5	0.87932|.|.	D|.|.	0|.|.	-15.052|-15.052|-15.052	13.1596|13.1596|13.1596	0.59537|0.59537|0.59537	0.0728:0.0:0.9272:0.0|0.0728:0.0:0.9272:0.0|0.0728:0.0:0.9272:0.0	.|.|.	915;889;927;944;886;697;947;886|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	M|V|C	886;823;879;918;881;886;886;918;948;947;927;697|875;594|837	ENSP00000361517:I886M;ENSP00000361485:I823M;ENSP00000361514:I879M;ENSP00000396608:I918M;ENSP00000361520:I886M;ENSP00000286627:I886M;ENSP00000385552:I948M;ENSP00000346321:I947M;ENSP00000385806:I927M|.|.	ENSP00000286627:I886M|.|.	I|L|S	-|-|-	3|1|2	3|0|0	KCNMA1|KCNMA1|KCNMA1	78374607|78374607|78374607	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.955000|7.955000|7.955000	0.87856|0.87856|0.87856	2.708000|2.708000|2.708000	0.92522|0.92522|0.92522	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	ATC|CTT|TCT	KCNMA1	-	NULL	ENSG00000156113		0.438	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	129	0.00	0	G	NM_002247		78704601	78704601	-1	no_errors	ENST00000406533	ensembl	human	known	69_37n	missense	153	13.07	23	SNP	1.000	C
KCNQ2	3785	genome.wustl.edu	37	20	62065196	62065196	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:62065196A>G	ENST00000359125.2	-	8	1258	c.1084T>C	c.(1084-1086)Tac>Cac	p.Y362H	KCNQ2_ENST00000359689.1_Missense_Mutation_p.Y362H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Y362H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.Y362H|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Y362H|KCNQ2_ENST00000344425.5_Missense_Mutation_p.Y362H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.Y362H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Y362H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	362					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGCTCGTAGTACTGCCACGTG	0.572																																						dbGAP											0													137.0	113.0	121.0					20																	62065196		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1084T>C	20.37:g.62065196A>G	ENSP00000352035:p.Tyr362His	Somatic		WXS	Illumina GAIIx	Phase_IV	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.Y362H	ENST00000359125.2	37	c.1084	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965114	0.74131	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99150	-5.23;-5.4;-5.36;-5.19;-5.4;-5.22;-5.26;-5.32;-5.2;-5.31;-5.49;-5.08	4.93	4.93	0.64822	.	0.089382	0.47455	D	0.000240	D	0.96503	0.8859	N	0.20986	0.625	0.51233	D	0.999914	B;B;B;B;B;B	0.25272	0.006;0.013;0.122;0.035;0.035;0.021	B;B;B;B;B;B	0.26094	0.013;0.021;0.066;0.033;0.032;0.015	D	0.95461	0.8543	10	0.29301	T	0.29	-6.8686	14.5846	0.68315	1.0:0.0:0.0:0.0	.	362;362;362;362;362;362	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	H	362	ENSP00000349789:Y362H;ENSP00000352035:Y362H;ENSP00000359246:Y362H;ENSP00000346601:Y362H;ENSP00000352718:Y362H;ENSP00000399612:Y362H;ENSP00000353668:Y362H;ENSP00000339611:Y362H;ENSP00000359244:Y362H;ENSP00000359242:Y362H;ENSP00000359241:Y362H;ENSP00000345523:Y362H	ENSP00000345523:Y362H	Y	-	1	0	KCNQ2	61535640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.532000	0.90613	1.869000	0.54173	0.533000	0.62120	TAC	KCNQ2	-	NULL	ENSG00000075043		0.572	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	103	0.00	0	A	NM_172109		62065196	62065196	-1	no_errors	ENST00000354587	ensembl	human	known	69_37n	missense	110	30.19	48	SNP	1.000	G
KCNQ4	9132	genome.wustl.edu	37	1	41285020	41285020	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:41285020A>G	ENST00000347132.5	+	5	792	c.710A>G	c.(709-711)gAg>gGg	p.E237G	KCNQ4_ENST00000509682.2_Splice_Site_p.E237G|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	237					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GCCCCGCAGGAGCTGATCACC	0.642																																						dbGAP											0													75.0	59.0	65.0					1																	41285020		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.709-1A>G	1.37:g.41285020A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E237G	ENST00000347132.5	37	c.710	CCDS456.1	1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871141	0.91587	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98419	-4.92;-4.92	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99437	1.0937	10	0.66056	D	0.02	-25.0377	12.801	0.57586	1.0:0.0:0.0:0.0	.	237;237	P56696-2;P56696	.;KCNQ4_HUMAN	G	237	ENSP00000262916:E237G;ENSP00000423756:E237G	ENSP00000262916:E237G	E	+	2	0	KCNQ4	41057607	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.287000	0.95975	1.907000	0.55213	0.460000	0.39030	GAG	KCNQ4	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	ENSG00000117013		0.642	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1	23	0.00	0	A	NM_004700	Missense_Mutation	41285020	41285020	+1	no_errors	ENST00000347132	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	1.000	G
KCNT1	57582	genome.wustl.edu	37	9	138662203	138662203	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:138662203A>G	ENST00000263604.3	+	17	1622	c.1622A>G	c.(1621-1623)gAg>gGg	p.E541G	KCNT1_ENST00000488444.2_Missense_Mutation_p.E541G|KCNT1_ENST00000298480.5_Missense_Mutation_p.E560G|KCNT1_ENST00000371757.2_Missense_Mutation_p.E560G|KCNT1_ENST00000486577.2_Missense_Mutation_p.E521G|KCNT1_ENST00000490355.2_Missense_Mutation_p.E541G|KCNT1_ENST00000491806.2_Missense_Mutation_p.E527G|KCNT1_ENST00000487664.1_Missense_Mutation_p.E515G			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	541	RCK N-terminal.				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)			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)		TCCGGCAACGAGGTGTACCAC	0.662																																						dbGAP											0													91.0	71.0	78.0					9																	138662203		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1622A>G	9.37:g.138662203A>G	ENSP00000263604:p.Glu541Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.E560G	ENST00000263604.3	37	c.1679		9	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033539	0.75504	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	3.71	2.56	0.30785	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	M	0.85542	2.76	0.58432	D	0.999999	D;D;D;D	0.67145	0.994;0.996;0.989;0.979	D;D;D;P	0.72625	0.948;0.978;0.945;0.906	T	0.67201	-0.5730	10	0.87932	D	0	-19.0001	8.0493	0.30568	0.9007:0.0:0.0993:0.0	.	527;560;515;541	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	G	515;560;560;521;527;541;541;541	ENSP00000417851:E515G;ENSP00000298480:E560G;ENSP00000360822:E560G;ENSP00000263604:E541G	ENSP00000263604:E541G	E	+	2	0	KCNT1	137802024	1.000000	0.71417	0.964000	0.40570	0.946000	0.59487	7.215000	0.77966	0.521000	0.28445	0.477000	0.44152	GAG	KCNT1	-	pfam_K_chnl_Ca-activ_BK_asu	ENSG00000107147		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		26	0.00	0	A	NM_020822		138662203	138662203	+1	no_errors	ENST00000298480	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	G
KCTD10	83892	genome.wustl.edu	37	12	109898454	109898454	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:109898454T>C	ENST00000228495.6	-	3	655	c.374A>G	c.(373-375)cAg>cGg	p.Q125R	KCTD10_ENST00000540411.1_Missense_Mutation_p.Q122R|KCTD10_ENST00000540089.1_5'Flank|KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000538161.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	125					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TAGGGCCGCCTGGCACTCTTC	0.592																																						dbGAP											0													95.0	84.0	88.0					12																	109898454		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.374A>G	12.37:g.109898454T>C	ENSP00000228495:p.Gln125Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.Q125R	ENST00000228495.6	37	c.374	CCDS9128.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.26|14.26	2.482837|2.482837	0.44147|0.44147	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000540411;ENST00000542262;ENST00000542858|ENST00000538161	T;T;T;T|.	0.46063|.	0.9;0.94;0.9;0.88|.	4.63|4.63	3.42|3.42	0.39159|0.39159	BTB/POZ-like (1);BTB/POZ fold (2);|.	0.122487|.	0.56097|.	D|.	0.000032|.	T|T	0.64227|0.64227	0.2579|0.2579	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	B;B;B|.	0.09022|.	0.0;0.002;0.001|.	B;B;B|.	0.13407|.	0.005;0.008;0.009|.	T|T	0.63808|0.63808	-0.6553|-0.6553	10|5	0.56958|.	D|.	0.05|.	-25.8393|-25.8393	10.0196|10.0196	0.42035|0.42035	0.15:0.0:0.0:0.85|0.15:0.0:0.0:0.85	.|.	122;125;125|.	F5GWA4;Q9H3F6-2;Q9H3F6|.	.;.;BACD3_HUMAN|.	R|G	125;122;125;125|91	ENSP00000228495:Q125R;ENSP00000441672:Q122R;ENSP00000437348:Q125R;ENSP00000445129:Q125R|.	ENSP00000228495:Q125R|.	Q|R	-|-	2|1	0|2	KCTD10|KCTD10	108382837|108382837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.010000|5.010000	0.64004|0.64004	1.941000|1.941000	0.56285|0.56285	0.460000|0.460000	0.39030|0.39030	CAG|AGG	KCTD10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000110906		0.592	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	HGNC	protein_coding	OTTHUMT00000403099.1	38	0.00	0	T	NM_031954		109898454	109898454	-1	no_errors	ENST00000228495	ensembl	human	known	69_37n	missense	21	43.24	16	SNP	1.000	C
KDM3A	55818	genome.wustl.edu	37	2	86712078	86712078	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:86712078T>C	ENST00000409556.1	+	21	3473	c.3108T>C	c.(3106-3108)aaT>aaC	p.N1036N	KDM3A_ENST00000542128.1_Silent_p.N984N|KDM3A_ENST00000312912.5_Silent_p.N1036N|KDM3A_ENST00000409064.1_Silent_p.N1036N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1036					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTTTGAAAAATGAAAAAGAAC	0.343																																					NSCLC(96;1150 1523 6936 46253 49736)	dbGAP											0													80.0	81.0	81.0					2																	86712078		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3108T>C	2.37:g.86712078T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.N1036	ENST00000409556.1	37	c.3108	CCDS1990.1	2																																																																																			KDM3A	-	NULL	ENSG00000115548		0.343	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	64	0.00	0	T	NM_018433		86712078	86712078	+1	no_errors	ENST00000312912	ensembl	human	known	69_37n	silent	79	26.85	29	SNP	1.000	C
KDM4C	23081	genome.wustl.edu	37	9	7103861	7103861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:7103861delC	ENST00000381309.3	+	18	3166	c.2601delC	c.(2599-2601)aacfs	p.N867fs	KDM4C_ENST00000381306.3_Frame_Shift_Del_p.N867fs|KDM4C_ENST00000428870.2_Frame_Shift_Del_p.N554fs|KDM4C_ENST00000442236.2_Frame_Shift_Del_p.N612fs|KDM4C_ENST00000536108.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	867					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATAAGGTCAACCCCAACGTGG	0.488																																						dbGAP											0													155.0	112.0	127.0					9																	7103861		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2601delC	9.37:g.7103861delC	ENSP00000370710:p.Asn867fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.N869fs	ENST00000381309.3	37	c.2601	CCDS6471.1	9																																																																																			KDM4C	-	NULL	ENSG00000107077		0.488	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	70	0.00	0	C	NM_015061		7103861	7103861	+1	no_errors	ENST00000381309	ensembl	human	known	69_37n	frame_shift_del	117	24.84	39	DEL	0.947	-
KIAA0141	9812	genome.wustl.edu	37	5	141309266	141309266	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:141309266T>A	ENST00000432126.2	+	5	666	c.532T>A	c.(532-534)Tct>Act	p.S178T	KIAA0141_ENST00000194118.4_Missense_Mutation_p.S178T	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	178					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACACAACTCTTTGAGAGG	0.632																																						dbGAP											0													61.0	57.0	58.0					5																	141309266		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.532T>A	5.37:g.141309266T>A	ENSP00000396225:p.Ser178Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969R4|Q96EU9	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.S178T	ENST00000432126.2	37	c.532	CCDS4268.1	5	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037746	0.75617	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.25579	2.51;2.51;1.79	5.06	3.9	0.45041	.	0.349077	0.27442	N	0.019350	T	0.27384	0.0672	M	0.66939	2.045	0.26969	N	0.965635	P	0.46784	0.884	B	0.43838	0.433	T	0.16217	-1.0410	10	0.42905	T	0.14	-15.0327	6.4064	0.21666	0.0:0.1178:0.0:0.8822	.	178	Q14154	DELE_HUMAN	T	178	ENSP00000396225:S178T;ENSP00000194118:S178T;ENSP00000422686:S178T	ENSP00000194118:S178T	S	+	1	0	KIAA0141	141289450	0.260000	0.24053	0.460000	0.27093	0.908000	0.53690	1.478000	0.35442	0.943000	0.37553	0.254000	0.18369	TCT	KIAA0141	-	NULL	ENSG00000081791		0.632	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0141	HGNC	protein_coding	OTTHUMT00000251863.2	39	0.00	0	T	NM_014773		141309266	141309266	+1	no_errors	ENST00000194118	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.861	A
KIAA0556	23247	genome.wustl.edu	37	16	27788938	27788938	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:27788938T>C	ENST00000261588.4	+	26	4578	c.4559T>C	c.(4558-4560)gTg>gCg	p.V1520A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1520						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						CAGCTCCTGGTGGACGACCTG	0.632																																						dbGAP											0													97.0	84.0	88.0					16																	27788938		2197	4300	6497	-	-	-	SO:0001583	missense	0			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.4559T>C	16.37:g.27788938T>C	ENSP00000261588:p.Val1520Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.V1520A	ENST00000261588.4	37	c.4559	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320081	0.60634	.	.	ENSG00000047578	ENST00000261588	T	0.16196	2.36	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000002	T	0.38026	0.1025	L	0.58428	1.81	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.17961	-1.0352	10	0.72032	D	0.01	-18.9741	14.234	0.65913	0.0:0.0:0.0:1.0	.	1520	O60303	K0556_HUMAN	A	1520	ENSP00000261588:V1520A	ENSP00000261588:V1520A	V	+	2	0	KIAA0556	27696439	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	7.675000	0.84002	1.897000	0.54924	0.459000	0.35465	GTG	KIAA0556	-	NULL	ENSG00000047578		0.632	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	46	0.00	0	T	NM_015202		27788938	27788938	+1	no_errors	ENST00000261588	ensembl	human	known	69_37n	missense	40	10.87	5	SNP	1.000	C
KIAA0754	643314	genome.wustl.edu	37	1	39877269	39877269	+	Silent	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:39877269A>T	ENST00000530275.1	+	1	1119	c.924A>T	c.(922-924)tcA>tcT	p.S308S	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	308										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			GACTTGTTTCAGATTCAGCAT	0.453											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													169.0	163.0	165.0					1																	39877269		1950	4153	6103	-	-	-	SO:0001819	synonymous_variant	0					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.924A>T	1.37:g.39877269A>T		Somatic	889	WXS	Illumina GAIIx	Phase_IV	E9PMC2|Q6ZSB2	Silent	SNP	NULL	p.S308	ENST00000530275.1	37	c.924		1																																																																																			KIAA0754	-	NULL	ENSG00000255103		0.453	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	53	0.00	0	A	NM_015038		39877269	39877269	+1	no_errors	ENST00000530275	ensembl	human	known	69_37n	silent	83	25.89	29	SNP	0.007	T
KIAA0922	23240	genome.wustl.edu	37	4	154506765	154506765	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:154506765T>C	ENST00000409663.3	+	13	1360		c.e13+2		KIAA0922_ENST00000409959.3_Splice_Site|KIAA0922_ENST00000440693.1_Splice_Site	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922							integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ATGTTAAAGGTACATATAGTA	0.313																																						dbGAP											0													105.0	104.0	105.0					4																	154506765		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1308+2T>C	4.37:g.154506765T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Splice_Site	SNP	-	e13+2	ENST00000409663.3	37	c.1311+2	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326253	0.41197	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9653	0.71188	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0922	154726215	1.000000	0.71417	0.996000	0.52242	0.579000	0.36224	5.016000	0.64041	2.326000	0.78906	0.533000	0.62120	.	KIAA0922	-	-	ENSG00000121210		0.313	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	54	0.00	0	T	NM_015196	Intron	154506765	154506765	+1	no_errors	ENST00000409959	ensembl	human	known	69_37n	splice_site	71	23.40	22	SNP	1.000	C
KIAA1191	57179	genome.wustl.edu	37	5	175782704	175782704	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:175782704A>G	ENST00000298569.4	-	4	610	c.77T>C	c.(76-78)aTa>aCa	p.I26T	KIAA1191_ENST00000510164.1_Missense_Mutation_p.I26T|KIAA1191_ENST00000533553.1_Intron|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.I7T|KIAA1191_ENST00000393728.2_Intron|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	26						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CCGGCGGTATATCCCGATGGG	0.562																																						dbGAP											0													70.0	64.0	66.0					5																	175782704		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.77T>C	5.37:g.175782704A>G	ENSP00000298569:p.Ile26Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	NULL	p.I26T	ENST00000298569.4	37	c.77	CCDS4399.1	5	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279309	0.59758	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164;ENST00000506983;ENST00000503082;ENST00000504688	.	.	.	4.92	4.92	0.64577	.	0.118670	0.85682	D	0.000000	T	0.42832	0.1220	N	0.14661	0.345	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.39860	-0.9593	9	0.87932	D	0	-8.106	14.848	0.70275	1.0:0.0:0.0:0.0	.	26	Q96A73	K1191_HUMAN	T	26;7;26;7;7;7	.	ENSP00000298569:I26T	I	-	2	0	KIAA1191	175715310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.636000	0.91010	1.974000	0.57490	0.482000	0.46254	ATA	KIAA1191	-	NULL	ENSG00000122203		0.562	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2	18	0.00	0	A	NM_020444		175782704	175782704	-1	no_errors	ENST00000298569	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	1.000	G
KIAA1217	56243	genome.wustl.edu	37	10	24722057	24722057	+	Silent	SNP	G	G	T	rs145086883	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:24722057G>T	ENST00000376454.3	+	4	717	c.687G>T	c.(685-687)tcG>tcT	p.S229S	KIAA1217_ENST00000430453.2_Silent_p.S150S|KIAA1217_ENST00000376452.3_Silent_p.S229S|KIAA1217_ENST00000376462.1_Silent_p.S149S|KIAA1217_ENST00000458595.1_Silent_p.S229S	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	229					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGCTGGAATCGCCCAGTGTCG	0.423																																						dbGAP											0													116.0	102.0	107.0					10																	24722057		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.687G>T	10.37:g.24722057G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.S229	ENST00000376454.3	37	c.687	CCDS31165.1	10																																																																																			KIAA1217	-	pfam_AIP3_C	ENSG00000120549		0.423	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	75	0.00	0	G	NM_019590		24722057	24722057	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	silent	106	22.46	31	SNP	0.334	T
MAP10	54627	genome.wustl.edu	37	1	232942880	232942880	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:232942880A>G	ENST00000418460.1	+	1	2238	c.2111A>G	c.(2110-2112)tAt>tGt	p.Y704C		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	562	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)										GAAGATAAGTATTTAGATTCA	0.363																																						dbGAP											0													33.0	31.0	32.0					1																	232942880		1872	4109	5981	-	-	-	SO:0001583	missense	0			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.2111A>G	1.37:g.232942880A>G	ENSP00000403208:p.Tyr704Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.Y704C	ENST00000418460.1	37	c.2111	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	A	6.231	0.410669	0.11812	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.97	-7.98	0.01135	.	0.915516	0.08918	N	0.874775	T	0.11537	0.0281	N	0.03177	-0.4	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.20042	-1.0287	9	0.39692	T	0.17	6.142	3.8933	0.09128	0.3519:0.1856:0.3749:0.0876	.	562	Q9P2G4	K1383_HUMAN	C	704	.	ENSP00000403208:Y704C	Y	+	2	0	KIAA1383	231009503	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-1.194000	0.03046	-1.513000	0.01789	0.482000	0.46254	TAT	KIAA1383	-	NULL	ENSG00000212916		0.363	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	38	0.00	0	A	NM_019090		232942880	232942880	+1	no_errors	ENST00000418460	ensembl	human	known	69_37n	missense	36	32.08	17	SNP	0.000	G
KIAA1407	57577	genome.wustl.edu	37	3	113755558	113755558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:113755558delT	ENST00000295878.3	-	5	637	c.491delA	c.(490-492)aatfs	p.N164fs	KIAA1407_ENST00000545063.1_De_novo_Start_InFrame	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	164										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATCTACCACATTTTTATGGAG	0.403																																						dbGAP											0													157.0	144.0	148.0					3																	113755558		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.491delA	3.37:g.113755558delT	ENSP00000295878:p.Asn164fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYL1|Q9P2E0	Frame_Shift_Del	DEL	NULL	p.N164fs	ENST00000295878.3	37	c.491	CCDS2977.1	3																																																																																			KIAA1407	-	NULL	ENSG00000163617		0.403	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	180	0.00	0	T	NM_020817		113755558	113755558	-1	no_errors	ENST00000295878	ensembl	human	known	69_37n	frame_shift_del	205	24.07	65	DEL	1.000	-
KIAA1429	25962	genome.wustl.edu	37	8	95503934	95503934	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:95503934A>G	ENST00000297591.5	-	22	5087	c.5012T>C	c.(5011-5013)aTa>aCa	p.I1671T	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1671					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I1671T(1)		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)			TGGTGGAGGTATTCCATCTTG	0.448																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											186.0	166.0	173.0					8																	95503934		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5012T>C	8.37:g.95503934A>G	ENSP00000297591:p.Ile1671Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I1671T	ENST00000297591.5	37	c.5012	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304635	0.60305	.	.	ENSG00000164944	ENST00000297591	T	0.42900	0.96	5.36	5.36	0.76844	.	0.107337	0.64402	D	0.000008	T	0.32734	0.0839	N	0.22421	0.69	0.80722	D	1	B	0.25609	0.13	B	0.25759	0.063	T	0.13683	-1.0500	10	0.59425	D	0.04	-14.6648	15.3555	0.74423	1.0:0.0:0.0:0.0	.	1671	Q69YN4	VIR_HUMAN	T	1671	ENSP00000297591:I1671T	ENSP00000297591:I1671T	I	-	2	0	KIAA1429	95573110	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.962000	0.93254	2.039000	0.60335	0.528000	0.53228	ATA	KIAA1429	-	NULL	ENSG00000164944		0.448	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	149	0.00	0	A	NM_015496		95503934	95503934	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	missense	215	22.94	64	SNP	1.000	G
KIAA1614	57710	genome.wustl.edu	37	1	180905640	180905640	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:180905640C>T	ENST00000367588.4	+	5	2650	c.2595C>T	c.(2593-2595)agC>agT	p.S865S	KIAA1614_ENST00000367587.1_Silent_p.S486S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	865										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCAGCCCAGCCGCCCTCAGG	0.667																																						dbGAP											0													36.0	44.0	42.0					1																	180905640		2027	4174	6201	-	-	-	SO:0001819	synonymous_variant	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2595C>T	1.37:g.180905640C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ45|Q9HCF8	Silent	SNP	NULL	p.S865	ENST00000367588.4	37	c.2595	CCDS41442.1	1																																																																																			KIAA1614	-	NULL	ENSG00000135835		0.667	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	46	0.00	0	C	XM_046531		180905640	180905640	+1	no_errors	ENST00000367588	ensembl	human	known	69_37n	silent	37	22.92	11	SNP	0.004	T
CCAR2	57805	genome.wustl.edu	37	8	22464757	22464757	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:22464757G>C	ENST00000308511.4	+	6	655	c.406G>C	c.(406-408)Ggc>Cgc	p.G136R	CCAR2_ENST00000389279.3_Missense_Mutation_p.G136R|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	136					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AGCAGCCCTGGGCCAGAAGCA	0.587																																						dbGAP											0													72.0	61.0	65.0					8																	22464757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.406G>C	8.37:g.22464757G>C	ENSP00000310670:p.Gly136Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.G136R	ENST00000308511.4	37	c.406	CCDS34863.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.258446|4.258446	0.80246|0.80246	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000523801;ENST00000518989|ENST00000308511;ENST00000389279;ENST00000521837;ENST00000523349	.|T;T	.|0.31247	.|1.5;1.5	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.144862|0.144862	0.48767|0.48767	D|D	0.000173|0.000173	T|T	0.44095|0.44095	0.1277|0.1277	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.24368|0.24368	-1.0162|-1.0162	6|10	.|0.51188	.|T	.|0.08	-25.6157|-25.6157	17.7962|17.7962	0.88572|0.88572	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|136	.|Q8N163	.|K1967_HUMAN	A|R	143;88|136	.|ENSP00000310670:G136R;ENSP00000373930:G136R	.|ENSP00000310670:G136R	G|G	+|+	2|1	0|0	KIAA1967|KIAA1967	22520702|22520702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.968000|5.968000	0.70413|0.70413	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|GGC	KIAA1967	-	NULL	ENSG00000158941		0.587	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1967	HGNC	protein_coding	OTTHUMT00000375865.1	86	0.00	0	G	NM_021174		22464757	22464757	+1	no_errors	ENST00000308511	ensembl	human	known	69_37n	missense	122	15.28	22	SNP	1.000	C
KIF14	9928	genome.wustl.edu	37	1	200584711	200584711	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:200584711A>G	ENST00000367350.4	-	3	1577	c.1139T>C	c.(1138-1140)gTa>gCa	p.V380A		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	380	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CATGAAGACTACCTGGGATGC	0.318																																						dbGAP											0													64.0	65.0	65.0					1																	200584711		2203	4299	6502	-	-	-	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1139T>C	1.37:g.200584711A>G	ENSP00000356319:p.Val380Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V380A	ENST00000367350.4	37	c.1139	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754543	0.69648	.	.	ENSG00000118193	ENST00000367350	T	0.73047	-0.71	5.64	4.52	0.55395	Kinesin, motor domain (4);	0.060460	0.64402	N	0.000003	T	0.67942	0.2947	L	0.49350	1.555	0.58432	D	0.999998	B	0.23735	0.09	B	0.34824	0.19	T	0.64563	-0.6378	10	0.44086	T	0.13	.	11.5481	0.50704	0.9301:0.0:0.0698:0.0	.	380	Q15058	KIF14_HUMAN	A	380	ENSP00000356319:V380A	ENSP00000356319:V380A	V	-	2	0	KIF14	198851334	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	5.866000	0.69590	1.085000	0.41206	0.528000	0.53228	GTA	KIF14	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000118193		0.318	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	44	0.00	0	A	NM_014875		200584711	200584711	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	missense	91	17.27	19	SNP	0.998	G
KIF20B	9585	genome.wustl.edu	37	10	91483862	91483862	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:91483862T>C	ENST00000371728.3	+	14	1927		c.e14+2		KIF20B_ENST00000478929.1_Splice_Site|KIF20B_ENST00000394289.2_Splice_Site|KIF20B_ENST00000416354.1_Splice_Site|KIF20B_ENST00000260753.4_Splice_Site	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B						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						TGACTTTAAGTAAGTTATTTA	0.274																																						dbGAP											0													71.0	82.0	78.0					10																	91483862		2200	4297	6497	-	-	-	SO:0001630	splice_region_variant	0			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.1862+2T>C	10.37:g.91483862T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Splice_Site	SNP	-	e13+2	ENST00000371728.3	37	c.1862+2		10	.	.	.	.	.	.	.	.	.	.	T	22.3	4.267223	0.80469	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2117	0.73230	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF20B	91473842	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.787000	0.75099	2.326000	0.78906	0.533000	0.62120	.	KIF20B	-	-	ENSG00000138182		0.274	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	32	0.00	0	T	NM_016195	Intron	91483862	91483862	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	splice_site	50	10.71	6	SNP	1.000	C
KIF21A	55605	genome.wustl.edu	37	12	39763645	39763645	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:39763645A>G	ENST00000361418.5	-	3	351	c.336T>C	c.(334-336)ggT>ggC	p.G112G	KIF21A_ENST00000541463.2_Silent_p.G112G|KIF21A_ENST00000544797.2_Silent_p.G112G|KIF21A_ENST00000361961.3_Silent_p.G112G|KIF21A_ENST00000395670.3_Silent_p.G112G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	112	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GAGAAATAATACCCAGTTCTT	0.343																																						dbGAP											0													95.0	90.0	92.0					12																	39763645		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.336T>C	12.37:g.39763645A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G112	ENST00000361418.5	37	c.336	CCDS53776.1	12																																																																																			KIF21A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000139116		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	88	0.00	0	A	NM_017641		39763645	39763645	-1	no_errors	ENST00000395670	ensembl	human	known	69_37n	silent	114	30.49	50	SNP	1.000	G
KIF24	347240	genome.wustl.edu	37	9	34256370	34256370	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:34256370T>G	ENST00000402558.2	-	10	3259	c.3235A>C	c.(3235-3237)Agt>Cgt	p.S1079R	KIF24_ENST00000379166.2_Missense_Mutation_p.S1079R|KIF24_ENST00000345050.2_Missense_Mutation_p.S945R|KIF24_ENST00000379174.3_Missense_Mutation_p.S945R			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1079					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCCACTAGACTGTGCGTAGCC	0.592																																						dbGAP											0													51.0	44.0	47.0					9																	34256370		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3235A>C	9.37:g.34256370T>G	ENSP00000384433:p.Ser1079Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1079R	ENST00000402558.2	37	c.3235	CCDS6551.2	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.57|11.57	1.678293|1.678293	0.29783|0.29783	.|.	.|.	ENSG00000186638|ENSG00000186638	ENST00000443226|ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	.|T;T;T;T	.|0.73152	.|-0.52;-0.72;-0.52;-0.72	4.61|4.61	-0.564|-0.564	0.11774|0.11774	.|.	.|0.662303	.|0.14158	.|N	.|0.337558	T|T	0.58652|0.58652	0.2137|0.2137	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.17832	.|T	.|0.49	.|.	8.3124|8.3124	0.32080|0.32080	0.0:0.3482:0.0:0.6518|0.0:0.3482:0.0:0.6518	.|.	.|1079	.|Q5T7B8	.|KIF24_HUMAN	P|R	124|1079;945;1079;945;1079	.|ENSP00000384433:S1079R;ENSP00000368472:S945R;ENSP00000368464:S1079R;ENSP00000340179:S945R	.|ENSP00000340179:S945R	Q|S	-|-	2|1	0|0	KIF24|KIF24	34246370|34246370	0.000000|0.000000	0.05858|0.05858	0.026000|0.026000	0.17262|0.17262	0.078000|0.078000	0.17371|0.17371	0.131000|0.131000	0.15870|0.15870	0.006000|0.006000	0.14734|0.14734	0.460000|0.460000	0.39030|0.39030	CAG|AGT	KIF24	-	NULL	ENSG00000186638		0.592	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	35	0.00	0	T			34256370	34256370	-1	no_errors	ENST00000379166	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	0.002	G
KIF26B	55083	genome.wustl.edu	37	1	245583020	245583020	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:245583020C>T	ENST00000407071.2	+	4	1579	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	380					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)			TCCACAGGCACATCGGTGGCC	0.592																																						dbGAP											0													94.0	97.0	96.0					1																	245583020		1998	4169	6167	-	-	-	SO:0001583	missense	0			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.1139C>T	1.37:g.245583020C>T	ENSP00000385545:p.Thr380Ile	Somatic		WXS	Illumina GAIIx	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.T380I	ENST00000407071.2	37	c.1139	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310424	0.60414	.	.	ENSG00000162849	ENST00000407071	T	0.80214	-1.35	5.56	5.56	0.83823	.	.	.	.	.	T	0.79782	0.4505	M	0.64997	1.995	0.80722	D	1	B	0.32324	0.364	B	0.28784	0.094	T	0.79557	-0.1754	9	0.59425	D	0.04	.	19.5433	0.95282	0.0:1.0:0.0:0.0	.	380	Q2KJY2	KI26B_HUMAN	I	380	ENSP00000385545:T380I	ENSP00000385545:T380I	T	+	2	0	KIF26B	243649643	1.000000	0.71417	0.972000	0.41901	0.592000	0.36648	4.656000	0.61483	2.594000	0.87642	0.643000	0.83706	ACA	KIF26B	-	NULL	ENSG00000162849		0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	48	0.00	0	C	XM_371354		245583020	245583020	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	missense	60	30.23	26	SNP	1.000	T
KIF6	221458	genome.wustl.edu	37	6	39563938	39563938	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:39563938G>T	ENST00000287152.7	-	7	832	c.738C>A	c.(736-738)ctC>ctA	p.L246L	KIF6_ENST00000538893.1_Silent_p.L246L|KIF6_ENST00000373216.3_Silent_p.L246L|KIF6_ENST00000373215.3_Silent_p.L246L|KIF6_ENST00000373213.4_Silent_p.L85L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	246	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAACCAGATGGAGTTTGGCAT	0.473																																						dbGAP											0													129.0	117.0	121.0					6																	39563938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.738C>A	6.37:g.39563938G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S138Y	ENST00000287152.7	37	c.413	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118722	0.20877	.	.	ENSG00000164627	ENST00000458470	.	.	.	5.98	-0.732	0.11147	.	.	.	.	.	T	0.24431	0.0592	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	.	2.1987	0.03917	0.3371:0.3523:0.2002:0.1104	.	.	.	.	Y	138	.	.	S	-	2	0	KIF6	39671916	0.864000	0.29904	0.947000	0.38551	0.934000	0.57294	-0.101000	0.10973	-0.494000	0.06669	-0.143000	0.13931	TCC	KIF6	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000164627		0.473	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	92	0.00	0	G	NM_145027		39563938	39563938	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000458470	ensembl	human	known	69_37n	missense	133	17.79	29	SNP	0.932	T
KIFC3	3801	genome.wustl.edu	37	16	57795058	57795058	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:57795058C>T	ENST00000379655.4	-	15	2155	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	KIFC3_ENST00000539578.1_Missense_Mutation_p.R575H|KIFC3_ENST00000445690.2_Missense_Mutation_p.R633H|KIFC3_ENST00000562903.1_Missense_Mutation_p.R494H|KIFC3_ENST00000541240.1_Missense_Mutation_p.R655H|KIFC3_ENST00000465878.2_Missense_Mutation_p.R494H|KIFC3_ENST00000421376.2_Missense_Mutation_p.R494H|KIFC3_ENST00000543930.1_Missense_Mutation_p.R491H|KIFC3_ENST00000540079.2_Missense_Mutation_p.R531H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	633	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)				CTCGGTCGTGCGATTAGTGTG	0.632																																						dbGAP											0													131.0	120.0	124.0					16																	57795058		2198	4300	6498	-	-	-	SO:0001583	missense	0			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.1898G>A	16.37:g.57795058C>T	ENSP00000368976:p.Arg633His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R633H	ENST00000379655.4	37	c.1898	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505919	0.85282	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	H	0.98507	4.25	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	0.71656	0.954;0.943;0.966;0.974;0.945;0.931	D	0.92473	0.5987	10	0.87932	D	0	.	17.5088	0.87754	0.0:1.0:0.0:0.0	.	655;575;491;531;633;494	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	H	633;633;494;655;531;491;575	ENSP00000368976:R633H;ENSP00000401696:R633H;ENSP00000396399:R494H;ENSP00000442008:R655H;ENSP00000438805:R531H;ENSP00000444012:R491H;ENSP00000444884:R575H	ENSP00000368976:R633H	R	-	2	0	KIFC3	56352559	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	6.056000	0.71111	2.402000	0.81655	0.205000	0.17691	CGC	KIFC3	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000140859		0.632	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	107	0.00	0	C	NM_005550		57795058	57795058	-1	no_errors	ENST00000379655	ensembl	human	known	69_37n	missense	102	15.70	19	SNP	1.000	T
KISS1	3814	genome.wustl.edu	37	1	204161941	204161941	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:204161941A>T	ENST00000367194.4	-	2	212	c.64T>A	c.(64-66)Tta>Ata	p.L22I		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	22					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		ACCTTTTCTAATGGCTCCCCA	0.512																																						dbGAP											0													32.0	33.0	33.0					1																	204161941		1851	4100	5951	-	-	-	SO:0001583	missense	0			U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.64T>A	1.37:g.204161941A>T	ENSP00000356162:p.Leu22Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N0|Q9HBP1	Missense_Mutation	SNP	NULL	p.L22I	ENST00000367194.4	37	c.64	CCDS41454.1	1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.980549	0.34942	.	.	ENSG00000170498	ENST00000367194	T	0.70869	-0.52	5.82	-2.51	0.06365	.	2.194420	0.02633	N	0.104537	T	0.62913	0.2467	L	0.55481	1.735	0.09310	N	1	P	0.42908	0.793	B	0.39217	0.294	T	0.54603	-0.8269	10	0.37606	T	0.19	0.0991	5.535	0.17005	0.2973:0.3029:0.3998:0.0	.	22	Q15726	KISS1_HUMAN	I	22	ENSP00000356162:L22I	ENSP00000356162:L22I	L	-	1	2	KISS1	202428564	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.121000	0.10643	-0.329000	0.08527	-0.297000	0.09499	TTA	KISS1	-	NULL	ENSG00000170498		0.512	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KISS1	HGNC	protein_coding	OTTHUMT00000087892.1	56	0.00	0	A	NM_002256		204161941	204161941	-1	no_errors	ENST00000367194	ensembl	human	known	69_37n	missense	99	16.10	19	SNP	0.000	T
KLHL13	90293	genome.wustl.edu	37	X	117053569	117053569	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:117053569T>C	ENST00000262820.3	-	4	1394	c.485A>G	c.(484-486)gAc>gGc	p.D162G	KLHL13_ENST00000371876.1_Missense_Mutation_p.D111G|KLHL13_ENST00000540167.1_Missense_Mutation_p.D146G|KLHL13_ENST00000371882.1_Missense_Mutation_p.D111G|KLHL13_ENST00000545703.1_Missense_Mutation_p.D120G|KLHL13_ENST00000371878.1_Missense_Mutation_p.D111G|KLHL13_ENST00000469946.1_Missense_Mutation_p.D111G|KLHL13_ENST00000541812.1_Missense_Mutation_p.D146G|KLHL13_ENST00000539496.1_Missense_Mutation_p.D165G	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	162					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						TTGAAGGTTGTCCATATTAAG	0.368																																						dbGAP											0													73.0	77.0	76.0					X																	117053569		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.485A>G	X.37:g.117053569T>C	ENSP00000262820:p.Asp162Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	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.D165G	ENST00000262820.3	37	c.494	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	T	9.235	1.036745	0.19669	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.07	5.07	0.68467	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.049472	0.85682	D	0.000000	T	0.50650	0.1628	N	0.16098	0.37	0.49483	D	0.999792	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.15052	0.005;0.003;0.008;0.012	T	0.47923	-0.9079	10	0.46703	T	0.11	.	13.9563	0.64150	0.0:0.0:0.0:1.0	.	146;165;156;162	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	G	111;111;111;111;146;146;165;162;120;111	ENSP00000360949:D111G;ENSP00000360943:D111G;ENSP00000360945:D111G;ENSP00000412640:D111G;ENSP00000444450:D146G;ENSP00000441029:D146G;ENSP00000443191:D165G;ENSP00000262820:D162G;ENSP00000440707:D120G;ENSP00000419803:D111G	ENSP00000262820:D162G	D	-	2	0	KLHL13	116937597	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	7.868000	0.87116	1.870000	0.54199	0.412000	0.27726	GAC	KLHL13	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.368	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		53	0.00	0	T	NM_033495		117053569	117053569	-1	no_errors	ENST00000539496	ensembl	human	known	69_37n	missense	58	27.50	22	SNP	1.000	C
KLHL14	57565	genome.wustl.edu	37	18	30267120	30267120	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:30267120T>C	ENST00000359358.4	-	5	1674	c.1236A>G	c.(1234-1236)gaA>gaG	p.E412E		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	412						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACACTTACCTTTCCTGCATGG	0.403																																						dbGAP											0													160.0	142.0	148.0					18																	30267120		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1236A>G	18.37:g.30267120T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNW1|B4DHA0|Q8WU41	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E412	ENST00000359358.4	37	c.1236	CCDS32813.1	18																																																																																			KLHL14	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197705		0.403	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	78	0.00	0	T			30267120	30267120	-1	no_errors	ENST00000359358	ensembl	human	known	69_37n	silent	42	32.26	20	SNP	1.000	C
KLHL4	56062	genome.wustl.edu	37	X	86888818	86888818	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:86888818T>C	ENST00000373119.4	+	8	1764	c.1619T>C	c.(1618-1620)gTa>gCa	p.V540A	KLHL4_ENST00000373114.4_Missense_Mutation_p.V540A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	540						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTAAATACTGTAGAAAGATGG	0.413																																						dbGAP											0													147.0	118.0	128.0					X																	86888818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1619T>C	X.37:g.86888818T>C	ENSP00000362211:p.Val540Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW2|Q9Y3J5	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,pfscan_BTB/POZ-like	p.V540A	ENST00000373119.4	37	c.1619	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	T	21.7	4.180777	0.78677	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.86030	-2.06;-2.06	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	M	0.65677	2.01	0.80722	D	1	P;D	0.58970	0.853;0.984	P;P	0.60068	0.836;0.868	D	0.88730	0.3236	10	0.41790	T	0.15	.	12.4994	0.55948	0.0:0.0:0.0:1.0	.	540;540	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	A	540	ENSP00000362211:V540A;ENSP00000362206:V540A	ENSP00000362206:V540A	V	+	2	0	KLHL4	86775474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.359000	0.79477	1.742000	0.51746	0.412000	0.27726	GTA	KLHL4	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000102271		0.413	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	85	0.00	0	T			86888818	86888818	+1	no_errors	ENST00000373114	ensembl	human	known	69_37n	missense	117	15.11	21	SNP	1.000	C
KLHL9	55958	genome.wustl.edu	37	9	21334379	21334379	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:21334379A>G	ENST00000359039.4	-	1	1000	c.480T>C	c.(478-480)atT>atC	p.I160I	KLHL9_ENST00000537938.1_Silent_p.I92I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	160	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AGGTGTTAGCAATTCGTCCAA	0.343																																						dbGAP											0													40.0	45.0	43.0					9																	21334379		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.480T>C	9.37:g.21334379A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCQ2	Silent	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.I160	ENST00000359039.4	37	c.480	CCDS6503.1	9																																																																																			KLHL9	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000198642		0.343	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2	17	0.00	0	A	NM_018847		21334379	21334379	-1	no_errors	ENST00000359039	ensembl	human	known	69_37n	silent	44	21.43	12	SNP	0.922	G
KNDC1	85442	genome.wustl.edu	37	10	135038192	135038192	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:135038192A>G	ENST00000304613.3	+	30	5069	c.5048A>G	c.(5047-5049)cAc>cGc	p.H1683R	KNDC1_ENST00000368572.2_Missense_Mutation_p.H1685R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1683	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		AGCCAGGTGCACGCGTTCCAG	0.602																																						dbGAP											0													89.0	71.0	77.0					10																	135038192		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5048A>G	10.37:g.135038192A>G	ENSP00000304437:p.His1683Arg	Somatic		WXS	Illumina GAIIx	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.H1685R	ENST00000304613.3	37	c.5054	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192228	0.58017	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.27104	1.69;1.69	4.42	4.42	0.53409	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.254848	0.39146	N	0.001444	T	0.13457	0.0326	N	0.15975	0.35	0.45621	D	0.998551	B	0.22683	0.073	B	0.17979	0.02	T	0.07868	-1.0750	10	0.09843	T	0.71	-29.5124	11.9058	0.52711	1.0:0.0:0.0:0.0	.	1683	Q76NI1	VKIND_HUMAN	R	1683;1685	ENSP00000304437:H1683R;ENSP00000357561:H1685R	ENSP00000304437:H1683R	H	+	2	0	KNDC1	134888182	0.999000	0.42202	0.967000	0.41034	0.922000	0.55478	4.689000	0.61723	1.762000	0.52044	0.533000	0.62120	CAC	KNDC1	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000171798		0.602	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	41	0.00	0	A	NM_152643		135038192	135038192	+1	no_errors	ENST00000368572	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	1.000	G
KPNA2	3838	genome.wustl.edu	37	17	66040147	66040147	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:66040147A>G	ENST00000537025.2	+	8	1744	c.1124A>G	c.(1123-1125)aAt>aGt	p.N375S	KPNA2_ENST00000330459.3_Missense_Mutation_p.N375S			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	375	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAGTTGTGAATCATGGATTA	0.428																																						dbGAP											0													196.0	209.0	205.0					17																	66040147		2203	4296	6499	-	-	-	SO:0001583	missense	0			U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1124A>G	17.37:g.66040147A>G	ENSP00000438483:p.Asn375Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.N375S	ENST00000537025.2	37	c.1124	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463256	0.43736	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.69175	-0.38;-0.38	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.183522	0.47093	U	0.000258	T	0.59905	0.2228	L	0.41492	1.28	0.51482	D	0.99992	B	0.02656	0.0	B	0.04013	0.001	T	0.57929	-0.7726	10	0.59425	D	0.04	.	15.4281	0.75069	1.0:0.0:0.0:0.0	.	375	P52292	IMA2_HUMAN	S	375	ENSP00000332455:N375S;ENSP00000438483:N375S	ENSP00000332455:N375S	N	+	2	0	KPNA2	63470609	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.903000	0.69877	2.040000	0.60383	0.369000	0.22263	AAT	KPNA2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000182481		0.428	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	98	0.00	0	A	NM_002266		66040147	66040147	+1	no_errors	ENST00000330459	ensembl	human	known	69_37n	missense	132	24.14	42	SNP	1.000	G
KPNA5	3841	genome.wustl.edu	37	6	117013467	117013467	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:117013467T>C	ENST00000368564.1	+	4	400	c.252T>C	c.(250-252)gtT>gtC	p.V84V	KPNA5_ENST00000356348.1_Silent_p.V84V			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	81					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGAAGTTGTTACTACAGATA	0.269																																						dbGAP											0													78.0	84.0	82.0					6																	117013467		2203	4287	6490	-	-	-	SO:0001819	synonymous_variant	0			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.252T>C	6.37:g.117013467T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI5|Q86X23	Silent	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.V84	ENST00000368564.1	37	c.252	CCDS5111.1	6																																																																																			KPNA5	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold	ENSG00000196911		0.269	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	139	0.00	0	T	NM_002269		117013467	117013467	+1	no_errors	ENST00000356348	ensembl	human	known	69_37n	silent	185	12.74	27	SNP	0.998	C
KPRP	448834	genome.wustl.edu	37	1	152733330	152733330	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:152733330T>C	ENST00000606109.1	+	1	1294	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	KPRP_ENST00000368773.1_Silent_p.P422P			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	422	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCGCGTCCTCTACCACGAC	0.582																																						dbGAP											0													182.0	190.0	187.0					1																	152733330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1266T>C	1.37:g.152733330T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P422	ENST00000606109.1	37	c.1266	CCDS30862.1	1																																																																																			KPRP	-	NULL	ENSG00000203786		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	139	0.00	0	T	NM_001025231		152733330	152733330	+1	no_errors	ENST00000368773	ensembl	human	known	69_37n	silent	152	22.84	45	SNP	0.004	C
KRTAP13-4	284827	genome.wustl.edu	37	21	31802706	31802706	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:31802706C>A	ENST00000334068.2	+	1	135	c.113C>A	c.(112-114)cCc>cAc	p.P38H		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	38						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTCTGCTCTCCCAGCACCTGC	0.622																																					NSCLC(196;2401 3038 18004 35753)	dbGAP											0													77.0	79.0	78.0					21																	31802706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.113C>A	21.37:g.31802706C>A	ENSP00000334834:p.Pro38His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRL3	Missense_Mutation	SNP	pfam_PMG	p.P38H	ENST00000334068.2	37	c.113	CCDS13592.1	21	.	.	.	.	.	.	.	.	.	.	-	12.53	1.966048	0.34659	.	.	ENSG00000186971	ENST00000334068	T	0.43294	0.95	4.29	3.4	0.38934	.	0.000000	0.45867	D	0.000335	T	0.65883	0.2734	M	0.90198	3.095	0.30669	N	0.753593	D	0.89917	1.0	D	0.78314	0.991	T	0.68765	-0.5322	10	0.87932	D	0	.	8.0031	0.30308	0.0:0.8911:0.0:0.1089	.	38	Q3LI77	KR134_HUMAN	H	38	ENSP00000334834:P38H	ENSP00000334834:P38H	P	+	2	0	KRTAP13-4	30724577	0.992000	0.36948	0.949000	0.38748	0.070000	0.16714	1.892000	0.39748	1.383000	0.46405	0.650000	0.86243	CCC	KRTAP13-4	-	pfam_PMG	ENSG00000186971		0.622	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-4	HGNC	protein_coding	OTTHUMT00000128222.1	82	0.00	0	C			31802706	31802706	+1	no_errors	ENST00000334068	ensembl	human	known	69_37n	missense	99	23.26	30	SNP	0.980	A
KRTAP10-4	386672	genome.wustl.edu	37	21	45994019	45994019	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:45994019C>T	ENST00000400374.3	+	1	414	c.384C>T	c.(382-384)gtC>gtT	p.V128V	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	128	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						GTGTGCCCGTCTGCTGTGGGG	0.647																																						dbGAP											0													173.0	153.0	160.0					21																	45994019		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			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.384C>T	21.37:g.45994019C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AS0	Silent	SNP	NULL	p.V128	ENST00000400374.3	37	c.384	CCDS42957.1	21																																																																																			KRTAP10-4	-	NULL	ENSG00000215454		0.647	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	HGNC	protein_coding	OTTHUMT00000128045.1	219	0.00	0	C	NM_198687		45994019	45994019	+1	no_errors	ENST00000400374	ensembl	human	known	69_37n	silent	161	31.78	75	SNP	0.083	T
LAMA2	3908	genome.wustl.edu	37	6	129637010	129637010	+	Missense_Mutation	SNP	C	C	A	rs142745227		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:129637010C>A	ENST00000421865.2	+	26	3888	c.3839C>A	c.(3838-3840)aCa>aAa	p.T1280K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1280	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGAGGTGGGACACCTACTCAT	0.433																																						dbGAP											0													114.0	114.0	114.0					6																	129637010		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3839C>A	6.37:g.129637010C>A	ENSP00000400365:p.Thr1280Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T1280K	ENST00000421865.2	37	c.3839	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196896	0.58126	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34072	1.38	5.55	4.68	0.58851	Laminin B type IV (2);Laminin B, subgroup (1);	0.096403	0.46758	D	0.000269	T	0.19485	0.0468	L	0.47716	1.5	0.35835	D	0.825598	P;P	0.43231	0.801;0.801	P;P	0.46419	0.516;0.516	T	0.07501	-1.0769	10	0.05721	T	0.95	.	14.9157	0.70795	0.0:0.9308:0.0:0.0692	.	1280;1280	A6NF00;P24043	.;LAMA2_HUMAN	K	1280	ENSP00000400365:T1280K	ENSP00000346769:T1280K	T	+	2	0	LAMA2	129678703	1.000000	0.71417	0.981000	0.43875	0.961000	0.63080	5.068000	0.64364	1.472000	0.48140	0.655000	0.94253	ACA	LAMA2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000196569		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	75	0.00	0	C			129637010	129637010	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	69	59.17	100	SNP	0.999	A
LAMA5	3911	genome.wustl.edu	37	20	60904938	60904938	+	Silent	SNP	G	G	A	rs541916597		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:60904938G>A	ENST00000252999.3	-	32	4080	c.4014C>T	c.(4012-4014)taC>taT	p.Y1338Y	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1338	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGCGGCAGCCGTAGCCATGTG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		16944	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													25.0	23.0	24.0					20																	60904938		2119	4129	6248	-	-	-	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4014C>T	20.37:g.60904938G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.Y1338	ENST00000252999.3	37	c.4014	CCDS33502.1	20																																																																																			LAMA5	-	NULL	ENSG00000130702		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	20	0.00	0	G	NM_005560		60904938	60904938	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	silent	6	60.00	9	SNP	0.925	A
LAMA5	3911	genome.wustl.edu	37	20	60906104	60906104	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:60906104C>T	ENST00000252999.3	-	29	3700	c.3634G>A	c.(3634-3636)Gcc>Acc	p.A1212T	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1212	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGCCAAAGGCGCCGTGGCTG	0.687																																						dbGAP											0													21.0	23.0	23.0					20																	60906104		2196	4297	6493	-	-	-	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3634G>A	20.37:g.60906104C>T	ENSP00000252999:p.Ala1212Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.A1212T	ENST00000252999.3	37	c.3634	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	1.369	-0.586658	0.03827	.	.	ENSG00000130702	ENST00000252999	T	0.18338	2.22	5.08	-8.29	0.01009	.	0.684983	0.14702	N	0.303511	T	0.06645	0.0170	N	0.05383	-0.06	0.18873	N	0.999989	B	0.06786	0.001	B	0.04013	0.001	T	0.31052	-0.9957	10	0.12766	T	0.61	.	16.0685	0.80907	0.0:0.5943:0.0:0.4057	.	1212	O15230	LAMA5_HUMAN	T	1212	ENSP00000252999:A1212T	ENSP00000252999:A1212T	A	-	1	0	LAMA5	60339499	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	0.169000	0.16641	-1.960000	0.01017	-0.339000	0.08088	GCC	LAMA5	-	NULL	ENSG00000130702		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	29	0.00	0	C	NM_005560		60906104	60906104	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.001	T
LAMB2	3913	genome.wustl.edu	37	3	49168278	49168278	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:49168278T>C	ENST00000418109.1	-	9	1095	c.931A>G	c.(931-933)Atc>Gtc	p.I311V	LAMB2_ENST00000305544.4_Missense_Mutation_p.I311V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	311	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTTTGCAGATGCAAGCTCCG	0.597																																						dbGAP											0													219.0	196.0	204.0					3																	49168278		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.931A>G	3.37:g.49168278T>C	ENSP00000388325:p.Ile311Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.I311V	ENST00000418109.1	37	c.931	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.709752	0.00712	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.60797	0.16;0.16	4.87	-4.89	0.03103	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.380584	0.26200	N	0.025751	T	0.21062	0.0507	N	0.00525	-1.395	0.28174	N	0.928464	B	0.02656	0.0	B	0.04013	0.001	T	0.12344	-1.0551	10	0.20046	T	0.44	.	17.3336	0.87274	0.0:0.8887:0.0:0.1113	.	311	P55268	LAMB2_HUMAN	V	311	ENSP00000388325:I311V;ENSP00000307156:I311V	ENSP00000307156:I311V	I	-	1	0	LAMB2	49143282	0.000000	0.05858	0.015000	0.15790	0.309000	0.27889	-0.346000	0.07760	-1.144000	0.02862	0.533000	0.62120	ATC	LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000172037		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	107	0.00	0	T	NM_002292		49168278	49168278	-1	no_errors	ENST00000305544	ensembl	human	known	69_37n	missense	87	23.68	27	SNP	0.553	C
LBR	3930	genome.wustl.edu	37	1	225605767	225605767	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:225605767C>G	ENST00000338179.2	-	6	881	c.756G>C	c.(754-756)gaG>gaC	p.E252D	LBR_ENST00000487054.1_5'UTR|LBR_ENST00000272163.4_Missense_Mutation_p.E252D	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	252					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)		TTTCCCATAACTCATACAAAG	0.438																																						dbGAP											0													92.0	84.0	87.0					1																	225605767		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.756G>C	1.37:g.225605767C>G	ENSP00000339883:p.Glu252Asp	Somatic		WXS	Illumina GAIIx	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.E252D	ENST00000338179.2	37	c.756	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	C	4.158	0.027746	0.08054	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97016	-4.21;-4.21	5.71	-11.4	0.00090	.	1.097340	0.06653	N	0.763006	D	0.88175	0.6366	N	0.17594	0.5	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.74106	-0.3772	10	0.10902	T	0.67	-1.9799	11.2146	0.48819	0.1901:0.468:0.3419:0.0	.	252	Q14739	LBR_HUMAN	D	252	ENSP00000272163:E252D;ENSP00000339883:E252D	ENSP00000272163:E252D	E	-	3	2	LBR	223672390	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.438000	0.01017	-2.721000	0.00389	-0.262000	0.10625	GAG	LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24	ENSG00000143815		0.438	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	59	0.00	0	C	NM_002296		225605767	225605767	-1	no_errors	ENST00000272163	ensembl	human	known	69_37n	missense	119	21.71	33	SNP	0.000	G
LCA5	167691	genome.wustl.edu	37	6	80228535	80228535	+	Frame_Shift_Del	DEL	T	T	-	rs34068461	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:80228535delT	ENST00000392959.1	-	3	688	c.77delA	c.(76-78)gatfs	p.D26fs	LCA5_ENST00000369846.4_Frame_Shift_Del_p.D26fs|LCA5_ENST00000467898.3_Frame_Shift_Del_p.D26fs	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	26			D -> A (in dbSNP:rs34068461).		intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CGTTTCAAAATCAGATAAGTA	0.418																																						dbGAP											0													301.0	284.0	290.0					6																	80228535		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.77delA	6.37:g.80228535delT	ENSP00000376686:p.Asp26fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P542|Q9BWX7	Frame_Shift_Del	DEL	NULL	p.D26fs	ENST00000392959.1	37	c.77	CCDS4990.1	6																																																																																			LCA5	-	NULL	ENSG00000135338		0.418	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	91	0.00	0	T	NM_181714		80228535	80228535	-1	no_errors	ENST00000369846	ensembl	human	known	69_37n	frame_shift_del	234	16.09	61	DEL	0.983	-
LCA5L	150082	genome.wustl.edu	37	21	40778156	40778156	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:40778156T>C	ENST00000358268.2	-	10	2193	c.1665A>G	c.(1663-1665)acA>acG	p.T555T	LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Silent_p.T555T|LCA5L_ENST00000380671.2_Silent_p.T555T			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	555										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				GATGCTTGCCTGTACTATGAC	0.473																																						dbGAP											0													123.0	117.0	119.0					21																	40778156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1665A>G	21.37:g.40778156T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSI0|Q3ZCT0	Silent	SNP	NULL	p.T555	ENST00000358268.2	37	c.1665	CCDS13665.1	21																																																																																			LCA5L	-	NULL	ENSG00000157578		0.473	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	80	0.00	0	T	NM_152505		40778156	40778156	-1	no_errors	ENST00000288350	ensembl	human	known	69_37n	silent	149	26.60	54	SNP	0.000	C
LCAT	3931	genome.wustl.edu	37	16	67977876	67977876	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:67977876A>G	ENST00000264005.5	-	1	158	c.129T>C	c.(127-129)agT>agC	p.S43S	SLC12A4_ENST00000422611.2_3'UTR|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	43					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GTGTGTGGTTACTGAGCTCAG	0.697																																						dbGAP											0													28.0	22.0	24.0					16																	67977876		1985	3948	5933	-	-	-	SO:0001819	synonymous_variant	0				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.129T>C	16.37:g.67977876A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XQ3	Silent	SNP	pfam_LACT/PDAT_acylTrfase	p.S43	ENST00000264005.5	37	c.129	CCDS10854.1	16																																																																																			LCAT	-	NULL	ENSG00000213398		0.697	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	37	0.00	0	A			67977876	67977876	-1	no_errors	ENST00000264005	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	1.000	G
LCLAT1	253558	genome.wustl.edu	37	2	30863518	30863518	+	3'UTR	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:30863518C>T	ENST00000309052.4	+	0	1487				LCLAT1_ENST00000540623.1_3'UTR|LCLAT1_ENST00000379509.3_3'UTR|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1						cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|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)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						AAACCTAGAGCATATTTTGGA	0.308																																						dbGAP											0													35.0	35.0	35.0					2																	30863518		2075	4229	6304	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.*33C>T	2.37:g.30863518C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Z7|Q8N1Q7	RNA	SNP	-	NULL	ENST00000309052.4	37	NULL	CCDS1772.1	2																																																																																			LCLAT1	-	-	ENSG00000172954		0.308	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1	44	0.00	0	C	NM_182551		30863518	30863518	+1	no_errors	ENST00000491680	ensembl	human	known	69_37n	rna	26	43.48	20	SNP	0.017	T
LGR6	59352	genome.wustl.edu	37	1	202287366	202287366	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:202287366T>C	ENST00000367278.3	+	18	2024	c.1935T>C	c.(1933-1935)acT>acC	p.T645T	LGR6_ENST00000255432.7_Silent_p.T593T|LGR6_ENST00000439764.2_Silent_p.T506T	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	645					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						GCCGGGCCACTGGCTTCCTGG	0.637																																						dbGAP											0													24.0	22.0	23.0					1																	202287366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1935T>C	1.37:g.202287366T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.T645	ENST00000367278.3	37	c.1935	CCDS30971.1	1																																																																																			LGR6	-	pfam_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt	ENSG00000133067		0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	38	0.00	0	T	NM_021636		202287366	202287366	+1	no_errors	ENST00000367278	ensembl	human	known	69_37n	silent	28	26.32	10	SNP	0.001	C
LHFPL5	222662	genome.wustl.edu	37	6	35773537	35773537	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:35773537T>C	ENST00000373853.1	+	1	468	c.90T>C	c.(88-90)ggT>ggC	p.G30G	LHFPL5_ENST00000360215.1_Silent_p.G30G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	30					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGATGTGGGGTACCCTCACCA	0.607																																						dbGAP											0													213.0	185.0	194.0					6																	35773537		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.90T>C	6.37:g.35773537T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX66	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.G30	ENST00000373853.1	37	c.90	CCDS4812.1	6																																																																																			LHFPL5	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000197753		0.607	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding	OTTHUMT00000040323.1	115	0.00	0	T	NM_182548		35773537	35773537	+1	no_errors	ENST00000360215	ensembl	human	known	69_37n	silent	132	15.00	24	SNP	0.960	C
LILRA2	11027	genome.wustl.edu	37	19	55085971	55085971	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:55085971G>A	ENST00000251377.3	+	4	407	c.274G>A	c.(274-276)Gca>Aca	p.A92T	LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.A80T|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.A92T|LILRA2_ENST00000391738.3_Missense_Mutation_p.A92T|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	92	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGGGAACACGCAGGGCGGTA	0.532																																						dbGAP											0													99.0	89.0	92.0					19																	55085971		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.274G>A	19.37:g.55085971G>A	ENSP00000251377:p.Ala92Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75020	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.A92T	ENST00000251377.3	37	c.274	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252529	0.22880	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	2.85	1.79	0.24919	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.247838	0.28382	N	0.015550	T	0.11580	0.0282	L	0.46670	1.46	0.25288	N	0.989382	B;P;B;P;B	0.38300	0.205;0.626;0.344;0.517;0.12	B;B;B;B;B	0.38985	0.029;0.287;0.19;0.26;0.021	T	0.11916	-1.0568	10	0.44086	T	0.13	.	5.8431	0.18645	0.1573:0.0:0.8427:0.0	.	92;92;80;92;92	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	T	92;92;92;92;80	ENSP00000388131:A92T;ENSP00000251377:A92T;ENSP00000375618:A92T;ENSP00000251376:A92T;ENSP00000375617:A80T	ENSP00000251376:A92T	A	+	1	0	LILRA2	59777783	0.000000	0.05858	0.187000	0.23214	0.001000	0.01503	0.097000	0.15168	0.525000	0.28522	-0.358000	0.07595	GCA	LILRA2	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	ENSG00000239998		0.532	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	88	0.00	0	G			55085971	55085971	+1	no_errors	ENST00000251377	ensembl	human	known	69_37n	missense	115	28.12	45	SNP	0.295	A
LIMCH1	22998	genome.wustl.edu	37	4	41608009	41608009	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:41608009T>C	ENST00000313860.7	+	6	528	c.474T>C	c.(472-474)gcT>gcC	p.A158A	LIMCH1_ENST00000512632.1_Silent_p.A158A|LIMCH1_ENST00000512946.1_Silent_p.A158A|LIMCH1_ENST00000512820.1_Silent_p.A158A|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000508501.1_Silent_p.A158A|LIMCH1_ENST00000511496.1_5'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	158					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GATTGTTGGCTCAGATGCGAA	0.418																																						dbGAP											0													153.0	131.0	139.0					4																	41608009		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.474T>C	4.37:g.41608009T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	pfam_CH-domain,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_SM22_calponin,prints_Calponin	p.A158	ENST00000313860.7	37	c.474	CCDS33977.1	4																																																																																			LIMCH1	-	superfamily_CH-domain	ENSG00000064042		0.418	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	126	0.00	0	T	NM_014988		41608009	41608009	+1	no_errors	ENST00000313860	ensembl	human	known	69_37n	silent	94	40.13	63	SNP	0.999	C
LNX1	84708	genome.wustl.edu	37	4	54364970	54364970	+	Silent	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:54364970A>T	ENST00000263925.7	-	5	1130	c.816T>A	c.(814-816)atT>atA	p.I272I	LNX1_ENST00000306888.2_Silent_p.I176I|LNX1-AS1_ENST00000502373.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	272					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGATGCTGGTAATTTCACCAT	0.448																																						dbGAP											0													100.0	88.0	92.0					4																	54364970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.816T>A	4.37:g.54364970A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.I272	ENST00000263925.7	37	c.816	CCDS47057.1	4																																																																																			LNX1	-	superfamily_PDZ	ENSG00000072201		0.448	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	63	0.00	0	A			54364970	54364970	-1	no_errors	ENST00000263925	ensembl	human	known	69_37n	silent	44	40.54	30	SNP	0.989	T
LPP	4026	genome.wustl.edu	37	3	188478051	188478051	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:188478051A>G	ENST00000312675.4	+	8	1637	c.1391A>G	c.(1390-1392)tAc>tGc	p.Y464C	LPP_ENST00000543006.1_Missense_Mutation_p.Y464C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	464	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AAGAAAGCATACTGCGAGCCC	0.458			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	dbGAP		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	0													147.0	137.0	140.0					3																	188478051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1391A>G	3.37:g.188478051A>G	ENSP00000318089:p.Tyr464Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Y464C	ENST00000312675.4	37	c.1391	CCDS3291.1	3	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694258	0.68386	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.92348	-3.02;-3.02	6.17	6.17	0.99709	Zinc finger, LIM-type (4);	0.118145	0.64402	D	0.000011	D	0.96883	0.8982	H	0.95114	3.625	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.69479	0.964;0.95	D	0.97517	1.0070	10	0.87932	D	0	.	11.1318	0.48351	0.8625:0.0:0.0:0.1375	.	317;464	B7Z8W0;Q93052	.;LPP_HUMAN	C	464	ENSP00000318089:Y464C;ENSP00000438891:Y464C	ENSP00000318089:Y464C	Y	+	2	0	LPP	189960745	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.100000	0.57762	2.371000	0.80710	0.533000	0.62120	TAC	LPP	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000145012		0.458	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	124	0.00	0	A	NM_005578		188478051	188478051	+1	no_errors	ENST00000312675	ensembl	human	known	69_37n	missense	170	30.20	74	SNP	1.000	G
LPPR3	79948	genome.wustl.edu	37	19	814468	814468	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:814468C>T	ENST00000520876.3	-	7	875	c.797G>A	c.(796-798)gGc>gAc	p.G266D	LPPR3_ENST00000359894.2_Missense_Mutation_p.G294D|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		266						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										GATGAGGAAGCCGGCATACAC	0.652																																						dbGAP											0													33.0	35.0	34.0					19																	814468		2192	4295	6487	-	-	-	SO:0001583	missense	0																														ENST00000520876.3:c.797G>A	19.37:g.814468C>T	ENSP00000430297:p.Gly266Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.G294D	ENST00000520876.3	37	c.881	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737050	0.89482	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876	D;D	0.90900	-2.75;-2.75	4.66	4.66	0.58398	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96639	0.8903	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.97976	1.0346	10	0.87932	D	0	2.3862	16.5199	0.84311	0.0:1.0:0.0:0.0	.	267;266;294	Q6T4P5-2;Q6T4P5;Q6T4P5-3	.;LPPR3_HUMAN;.	D	267;294;266	ENSP00000352962:G294D;ENSP00000430297:G266D	ENSP00000300947:G267D	G	-	2	0	AC006273.1	765468	1.000000	0.71417	0.990000	0.47175	0.482000	0.33219	7.199000	0.77831	2.137000	0.66172	0.555000	0.69702	GGC	hsa-mir-3187	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.652	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	miRBase	protein_coding	OTTHUMT00000379096.3	21	0.00	0	C			814468	814468	-1	no_errors	ENST00000359894	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	T
LRP5	4041	genome.wustl.edu	37	11	68174114	68174114	+	Missense_Mutation	SNP	G	G	T	rs371615673		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:68174114G>T	ENST00000294304.7	+	9	2030	c.1924G>T	c.(1924-1926)Gtg>Ttg	p.V642L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	642					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCTGCATCGTGCCTGAGGC	0.622																																						dbGAP											0													78.0	63.0	68.0					11																	68174114		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1924G>T	11.37:g.68174114G>T	ENSP00000294304:p.Val642Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V642L	ENST00000294304.7	37	c.1924	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756916	0.49362	.	.	ENSG00000162337	ENST00000294304	D	0.95447	-3.71	4.11	1.15	0.20763	.	0.380726	0.18351	U	0.143879	D	0.92257	0.7544	L	0.59967	1.855	0.36788	D	0.884685	B;B	0.26708	0.157;0.157	B;B	0.32090	0.14;0.14	D	0.87625	0.2512	10	0.37606	T	0.19	.	5.5685	0.17184	0.6007:0.0:0.3993:0.0	.	642;642	Q9UES7;O75197	.;LRP5_HUMAN	L	642	ENSP00000294304:V642L	ENSP00000294304:V642L	V	+	1	0	LRP5	67930690	0.990000	0.36364	0.704000	0.30370	0.984000	0.73092	2.294000	0.43567	0.487000	0.27698	0.555000	0.69702	GTG	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6	ENSG00000162337		0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	45	0.00	0	G	NM_002335		68174114	68174114	+1	no_errors	ENST00000294304	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	0.983	T
LRR1	122769	genome.wustl.edu	37	14	50065893	50065893	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:50065893T>C	ENST00000298288.6	+	1	479	c.155T>C	c.(154-156)cTg>cCg	p.L52P	RPS29_ENST00000557111.1_5'Flank|AL139099.1_ENST00000539688.1_5'Flank|LRR1_ENST00000318317.4_Missense_Mutation_p.L52P	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	52					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATCTCCACCCTGAAGGACAAG	0.652																																						dbGAP											0													36.0	31.0	33.0					14																	50065893		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.155T>C	14.37:g.50065893T>C	ENSP00000298288:p.Leu52Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L52P	ENST00000298288.6	37	c.155	CCDS9686.1	14	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923148	0.52653	.	.	ENSG00000165501	ENST00000298288;ENST00000361579;ENST00000318317	T	0.39229	1.09	5.18	5.18	0.71444	.	0.467688	0.22887	N	0.054425	T	0.48077	0.1480	L	0.33485	1.01	0.52099	D	0.99994	D;P	0.71674	0.998;0.8	D;B	0.65010	0.931;0.276	T	0.31530	-0.9940	10	0.30078	T	0.28	-5.2467	10.9821	0.47501	0.0:0.0:0.1561:0.8439	.	52;52	Q96L50-2;Q96L50	.;LLR1_HUMAN	P	52	ENSP00000298288:L52P	ENSP00000298288:L52P	L	+	2	0	LRR1	49135643	0.996000	0.38824	1.000000	0.80357	0.743000	0.42351	3.043000	0.49823	2.313000	0.78055	0.456000	0.33151	CTG	LRR1	-	NULL	ENSG00000165501		0.652	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRR1	HGNC	protein_coding	OTTHUMT00000410790.1	30	0.00	0	T	NM_203467		50065893	50065893	+1	no_errors	ENST00000298288	ensembl	human	known	69_37n	missense	16	42.86	12	SNP	1.000	C
LRRC16A	55604	genome.wustl.edu	37	6	25510790	25510790	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:25510790A>G	ENST00000329474.6	+	19	1901	c.1533A>G	c.(1531-1533)atA>atG	p.I511M		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	511					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ACAGATCAATACAACACCTGG	0.318																																						dbGAP											0													65.0	55.0	58.0					6																	25510790		1811	4054	5865	-	-	-	SO:0001583	missense	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1533A>G	6.37:g.25510790A>G	ENSP00000331983:p.Ile511Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I511M	ENST00000329474.6	37	c.1533	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119018	0.56505	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.55413	0.52	5.49	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.45698	1.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.981;0.999	T	0.55503	-0.8131	10	0.66056	D	0.02	.	8.529	0.33321	0.735:0.1355:0.0:0.1295	.	511;511;511	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	M	511	ENSP00000331983:I511M	ENSP00000331983:I511M	I	+	3	3	LRRC16A	25618769	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.005000	0.29834	0.981000	0.38548	0.533000	0.62120	ATA	LRRC16A	-	NULL	ENSG00000079691		0.318	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	146	0.00	0	A	NM_017640		25510790	25510790	+1	no_errors	ENST00000329474	ensembl	human	novel	69_37n	missense	187	17.62	40	SNP	0.984	G
LRRC27	80313	genome.wustl.edu	37	10	134158119	134158119	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:134158119T>C	ENST00000368614.3	+	5	623	c.518T>C	c.(517-519)gTa>gCa	p.V173A	LRRC27_ENST00000368615.3_Missense_Mutation_p.V173A|LRRC27_ENST00000344079.5_Missense_Mutation_p.V173A|LRRC27_ENST00000432555.2_Missense_Mutation_p.V46A|LRRC27_ENST00000368613.4_Missense_Mutation_p.V173A|LRRC27_ENST00000368612.1_Missense_Mutation_p.V111A|LRRC27_ENST00000392638.2_Missense_Mutation_p.V173A|LRRC27_ENST00000356571.4_Silent_p.S153S|LRRC27_ENST00000368610.3_Missense_Mutation_p.V111A	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	173										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ATGTGGGCAGTAGAACACTCT	0.468																																						dbGAP											0													126.0	128.0	127.0					10																	134158119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.518T>C	10.37:g.134158119T>C	ENSP00000357603:p.Val173Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V173A	ENST00000368614.3	37	c.518	CCDS31316.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.916|3.916	-0.019020|-0.019020	0.07681|0.07681	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000450442	T;T;T;T;T;T;T;T|.	0.44083|.	2.55;2.45;2.45;2.47;2.47;4.24;4.24;0.93|.	4.89|4.89	-9.78|-9.78	0.00496|0.00496	.|.	1.443980|.	0.04692|.	N|.	0.414313|.	T|.	0.08537|.	0.0212|.	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.11235|.	0.001;0.001;0.0;0.0;0.004|.	B;B;B;B;B|.	0.10450|.	0.003;0.001;0.001;0.001;0.005|.	T|.	0.32402|.	-0.9908|.	10|.	0.07813|.	T|.	0.8|.	-1.6671|-1.6671	8.7695|8.7695	0.34724|0.34724	0.0843:0.1169:0.0838:0.715|0.0843:0.1169:0.0838:0.715	.|.	173;46;111;173;173|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3|.	.;.;.;LRC27_HUMAN;.|.	A|Q	173;173;173;173;173;111;111;46|125	ENSP00000357604:V173A;ENSP00000376413:V173A;ENSP00000342641:V173A;ENSP00000357603:V173A;ENSP00000357602:V173A;ENSP00000357601:V111A;ENSP00000357599:V111A;ENSP00000407949:V46A|.	ENSP00000342641:V173A|.	V|X	+|+	2|1	0|0	LRRC27|LRRC27	134008109|134008109	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.023000|-1.023000	0.03607|0.03607	-2.907000|-2.907000	0.00309|0.00309	-1.151000|-1.151000	0.01829|0.01829	GTA|TAG	LRRC27	-	NULL	ENSG00000148814		0.468	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	HGNC	protein_coding	OTTHUMT00000051058.2	52	0.00	0	T	XM_290462		134158119	134158119	+1	no_errors	ENST00000368613	ensembl	human	known	69_37n	missense	38	34.48	20	SNP	0.000	C
LRRC37A4P	55073	genome.wustl.edu	37	17	43585807	43585807	+	RNA	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:43585807G>T	ENST00000579913.1	-	0	1542				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		AATTTTGCATGTCCTCTGCCT	0.473																																						dbGAP											0																																										-	-	-			0			AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43585807G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000579913.1	37	NULL		17																																																																																			LRRC37A4P	-	-	ENSG00000214425		0.473	LRRC37A4P-002	KNOWN	basic	processed_transcript	LRRC37A4P	HGNC	pseudogene	OTTHUMT00000445300.1	172	0.00	0	G	NR_002940		43585807	43585807	-1	no_errors	ENST00000579913	ensembl	human	known	69_37n	rna	117	39.69	77	SNP	0.000	T
LRRK1	79705	genome.wustl.edu	37	15	101523888	101523888	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:101523888G>C	ENST00000388948.3	+	4	776	c.417G>C	c.(415-417)ttG>ttC	p.L139F	LRRK1_ENST00000532029.2_Missense_Mutation_p.L139F|LRRK1_ENST00000284395.5_Missense_Mutation_p.L112F	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)			TGCAGGAATTGCTTGAGTCCT	0.532																																						dbGAP											0													88.0	88.0	88.0					15																	101523888		2043	4179	6222	-	-	-	SO:0001583	missense	0			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.417G>C	15.37:g.101523888G>C	ENSP00000373600:p.Leu139Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_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.L139F	ENST00000388948.3	37	c.417	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039374	0.55003	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	D;T;D	0.84070	-1.8;-0.88;-1.8	5.71	-3.15	0.05233	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000017	D	0.88890	0.6560	M	0.86651	2.83	0.33901	D	0.638478	D;D	0.89917	0.995;1.0	D;D	0.91635	0.982;0.999	D	0.87656	0.2531	10	0.72032	D	0.01	.	7.9177	0.29827	0.4544:0.0:0.4448:0.1008	.	139;139	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	F	139;112;139	ENSP00000373600:L139F;ENSP00000284395:L112F;ENSP00000433268:L139F	ENSP00000284395:L112F	L	+	3	2	LRRK1	99341411	0.970000	0.33590	0.025000	0.17156	0.625000	0.37756	0.047000	0.14056	-0.435000	0.07264	0.591000	0.81541	TTG	LRRK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000154237		0.532	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	49	0.00	0	G	NM_024652		101523888	101523888	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	missense	107	25.17	36	SNP	0.569	C
LRRK1	79705	genome.wustl.edu	37	15	101593286	101593286	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:101593286A>G	ENST00000388948.3	+	25	4208	c.3849A>G	c.(3847-3849)gtA>gtG	p.V1283V	LRRK1_ENST00000284395.5_Silent_p.V1280V|RP11-505E24.2_ENST00000559857.1_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)			TTGCTAACGTACCGGCAGGTA	0.592																																						dbGAP											0													38.0	45.0	43.0					15																	101593286		2031	4186	6217	-	-	-	SO:0001819	synonymous_variant	0			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.3849A>G	15.37:g.101593286A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.V1283	ENST00000388948.3	37	c.3849	CCDS42086.1	15																																																																																			LRRK1	-	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	ENSG00000154237		0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	24	0.00	0	A	NM_024652		101593286	101593286	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	silent	70	12.50	10	SNP	0.000	G
LTN1	26046	genome.wustl.edu	37	21	30339479	30339479	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:30339479A>C	ENST00000361371.5	-	10	1413	c.1334T>G	c.(1333-1335)gTt>gGt	p.V445G	LTN1_ENST00000389194.2_Missense_Mutation_p.V491G|LTN1_ENST00000389195.2_Missense_Mutation_p.V491G			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	445					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						GTCTTTGAGAACTGCATCAAT	0.388																																						dbGAP											0													60.0	56.0	57.0					21																	30339479		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1334T>G	21.37:g.30339479A>C	ENSP00000354977:p.Val445Gly	Somatic		WXS	Illumina GAIIx	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.V445G	ENST00000361371.5	37	c.1334		21	.	.	.	.	.	.	.	.	.	.	A	9.888	1.203476	0.22121	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.65916	3.53;3.53;-0.18	5.02	2.72	0.32119	Armadillo-type fold (1);	0.269321	0.37053	N	0.002263	T	0.44201	0.1282	L	0.27053	0.805	0.58432	D	0.999999	B	0.24483	0.104	B	0.22386	0.039	T	0.29274	-1.0017	10	0.33141	T	0.24	.	8.117	0.30948	0.7737:0.0:0.2263:0.0	.	445	O94822	LTN1_HUMAN	G	491;445;447;491	ENSP00000373846:V491G;ENSP00000354977:V445G;ENSP00000373847:V491G	ENSP00000354977:V445G	V	-	2	0	LTN1	29261350	0.998000	0.40836	0.997000	0.53966	0.872000	0.50106	3.434000	0.52841	1.046000	0.40249	0.528000	0.53228	GTT	LTN1	-	superfamily_ARM-type_fold	ENSG00000198862		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	73	0.00	0	A	NM_015565		30339479	30339479	-1	no_errors	ENST00000361371	ensembl	human	known	69_37n	missense	88	28.46	35	SNP	0.994	C
LY6D	8581	genome.wustl.edu	37	8	143866694	143866694	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:143866694G>T	ENST00000301263.4	-	3	405	c.330C>A	c.(328-330)gcC>gcA	p.A110A	RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	110					cell adhesion (GO:0007155)|lymphocyte differentiation (GO:0030098)|response to stilbenoid (GO:0035634)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|membrane (GO:0016020)|plasma membrane (GO:0005886)				large_intestine(1)|lung(3)|prostate(1)	5	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)					CCAGGCTGAGGGCACTGTGGG	0.667																																						dbGAP											0													35.0	36.0	36.0					8																	143866694		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			U66837	CCDS6390.1	8q24	2004-07-06			ENSG00000167656	ENSG00000167656			13348	protein-coding gene	gene with protein product		606204				7790363, 9551972	Standard	NM_003695		Approved	E48	uc003yxf.1	Q14210	OTTHUMG00000164693	ENST00000301263.4:c.330C>A	8.37:g.143866694G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5F1|D3DWJ0|O43783|Q6GTV9|Q8TBD4|Q92933	Silent	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.A110	ENST00000301263.4	37	c.330	CCDS6390.1	8																																																																																			LY6D	-	NULL	ENSG00000167656		0.667	LY6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6D	HGNC	protein_coding	OTTHUMT00000379774.1	68	0.00	0	G	NM_003695		143866694	143866694	-1	no_errors	ENST00000301263	ensembl	human	known	69_37n	silent	56	22.22	16	SNP	0.173	T
LY75	4065	genome.wustl.edu	37	2	160711424	160711424	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:160711424A>G	ENST00000263636.4	-	17	2437	c.2410T>C	c.(2410-2412)Tac>Cac	p.Y804H	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.Y804H|LY75_ENST00000554112.1_Missense_Mutation_p.Y804H|LY75_ENST00000553424.1_Missense_Mutation_p.Y804H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.Y804H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	804					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)		CCTGGATTGTACCAGTCTGGT	0.378																																						dbGAP											0													151.0	145.0	147.0					2																	160711424		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2410T>C	2.37:g.160711424A>G	ENSP00000263636:p.Tyr804His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	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.Y804H	ENST00000263636.4	37	c.2410	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111045	0.77210	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.10860	2.85;2.84;2.83;2.85;2.84	6.17	6.17	0.99709	.	0.303370	0.18174	U	0.149343	T	0.32645	0.0836	M	0.81802	2.56	0.58432	D	0.999994	D;D;D	0.76494	0.998;0.999;0.993	D;D;P	0.66602	0.929;0.945;0.884	T	0.02220	-1.1193	10	0.33141	T	0.24	-18.7232	13.214	0.59844	1.0:0.0:0.0:0.0	.	804;804;804	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	804	ENSP00000451511:Y804H;ENSP00000451446:Y804H;ENSP00000263636:Y804H;ENSP00000423463:Y804H;ENSP00000421035:Y804H	ENSP00000423463:Y804H	Y	-	1	0	LY75;LY75-CD302	160419670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.061000	0.64319	2.371000	0.80710	0.533000	0.62120	TAC	LY75	-	NULL	ENSG00000054219		0.378	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	182	0.00	0	A			160711424	160711424	-1	no_errors	ENST00000554112	ensembl	human	known	69_37n	missense	247	13.29	38	SNP	1.000	G
LYST	1130	genome.wustl.edu	37	1	235904748	235904748	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:235904748G>C	ENST00000389794.3	-	31	8506	c.8332C>G	c.(8332-8334)Cga>Gga	p.R2778G	LYST_ENST00000389793.2_Missense_Mutation_p.R2778G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2778					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGACAGTCTCGTAGTATTTCC	0.388																																						dbGAP											0													199.0	182.0	188.0					1																	235904748		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8332C>G	1.37:g.235904748G>C	ENSP00000374444:p.Arg2778Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2778G	ENST00000389794.3	37	c.8332	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429403	0.25726	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63417	-0.04;-0.04	5.37	2.34	0.29019	.	0.907817	0.09876	N	0.744306	T	0.57460	0.2055	L	0.60455	1.87	0.28823	N	0.897597	P	0.36330	0.548	B	0.35039	0.194	T	0.50693	-0.8798	10	0.56958	D	0.05	.	9.8549	0.41079	0.0667:0.0:0.3589:0.5744	.	2778	Q99698	LYST_HUMAN	G	2778	ENSP00000374444:R2778G;ENSP00000374443:R2778G	ENSP00000374443:R2778G	R	-	1	2	LYST	233971371	0.987000	0.35691	0.967000	0.41034	0.669000	0.39330	2.021000	0.41020	0.218000	0.20820	-0.515000	0.04445	CGA	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.388	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	127	0.00	0	G			235904748	235904748	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	194	19.17	46	SNP	0.753	C
MAD2L1	4085	genome.wustl.edu	37	4	120983199	120983199	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:120983199A>T	ENST00000296509.6	-	3	611	c.272T>A	c.(271-273)aTt>aAt	p.I91N		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	91	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						ACCACTTTCAATATTTGAGAT	0.358																																						dbGAP											0													109.0	104.0	105.0					4																	120983199		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.272T>A	4.37:g.120983199A>T	ENSP00000296509:p.Ile91Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.I91N	ENST00000296509.6	37	c.272	CCDS3715.1	4	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812534	0.50527	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.47	5.47	0.80525	DNA-binding HORMA (4);	0.059284	0.64402	D	0.000002	T	0.46073	0.1374	L	0.39147	1.195	0.54753	D	0.999985	B	0.06786	0.001	B	0.08055	0.003	T	0.36383	-0.9750	9	0.18276	T	0.48	-18.2824	11.5854	0.50914	0.8665:0.0:0.0:0.1335	.	91	Q13257	MD2L1_HUMAN	N	91	.	ENSP00000296509:I91N	I	-	2	0	MAD2L1	121202647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.748000	0.68697	2.184000	0.69523	0.533000	0.62120	ATT	MAD2L1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000164109		0.358	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1	HGNC	protein_coding	OTTHUMT00000256525.2	196	0.00	0	A			120983199	120983199	-1	no_errors	ENST00000296509	ensembl	human	known	69_37n	missense	176	21.78	49	SNP	1.000	T
MAGEA8	4107	genome.wustl.edu	37	X	149013887	149013888	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:149013887_149013888insT	ENST00000542674.1	+	3	1362_1363	c.841_842insT	c.(841-843)cttfs	p.L281fs	MAGEA8_ENST00000286482.1_Frame_Shift_Ins_p.L281fs|MAGEA8_ENST00000535454.1_Frame_Shift_Ins_p.L281fs	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	281	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAAGGGCCCTTGCTGAAACC	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.843dupT	X.37:g.149013889_149013889dupT	ENSP00000443776:p.Leu281fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUN9	Frame_Shift_Ins	INS	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A282fs	ENST00000542674.1	37	c.841_842	CCDS14692.1	X																																																																																			MAGEA8	-	pfam_MAGE,pfscan_MAGE	ENSG00000156009		0.579	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	46	0.00	0	-	NM_005364		149013887	149013888	+1	no_errors	ENST00000286482	ensembl	human	known	69_37n	frame_shift_ins	59	25.32	20	INS	0.020:0.020	T
MAGI1	9223	genome.wustl.edu	37	3	65342309	65342309	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:65342309A>T	ENST00000402939.2	-	23	4132	c.4133T>A	c.(4132-4134)cTg>cAg	p.L1378Q	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1407					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTCTGCTCCAGGAGTCTCTC	0.721																																						dbGAP											0													30.0	35.0	33.0					3																	65342309		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4133T>A	3.37:g.65342309A>T	ENSP00000385450:p.Leu1378Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.L1378Q	ENST00000402939.2	37	c.4133	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.566301	0.00903	.	.	ENSG00000151276	ENST00000402939	T	0.12255	2.7	5.31	4.14	0.48551	.	0.887858	0.09572	N	0.783981	T	0.09949	0.0244	L	0.27053	0.805	0.46279	D	0.998964	P	0.41569	0.755	B	0.39258	0.295	T	0.18304	-1.0341	10	0.13470	T	0.59	-2.5787	8.9714	0.35908	0.836:0.0:0.164:0.0	.	1378	Q96QZ7-2	.	Q	1378	ENSP00000385450:L1378Q	ENSP00000385450:L1378Q	L	-	2	0	MAGI1	65317349	0.829000	0.29322	0.425000	0.26659	0.006000	0.05464	1.502000	0.35704	0.848000	0.35191	-0.290000	0.09829	CTG	MAGI1	-	NULL	ENSG00000151276		0.721	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	45	0.00	0	A	NM_004742		65342309	65342309	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.451	T
MAN2B1	4125	genome.wustl.edu	37	19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:12769127C>T	ENST00000456935.2	-	9	1181	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	381					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						GGGCCATCCGCGTAAGGGAAG	0.617																																						dbGAP											0													64.0	68.0	67.0					19																	12769127		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.1141G>A	19.37:g.12769127C>T	ENSP00000395473:p.Ala381Thr	Somatic		WXS	Illumina GAIIx	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.A381T	ENST00000456935.2	37	c.1141	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.398417	0.96030	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.80738	-1.41;-1.41	5.33	5.33	0.75918	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.42294	D	0.000730	D	0.90222	0.6943	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.81914	0.995;0.877	D	0.91550	0.5256	10	0.87932	D	0	-8.818	16.5676	0.84602	0.0:1.0:0.0:0.0	.	380;381	G5E928;O00754	.;MA2B1_HUMAN	T	381;320;380	ENSP00000395473:A381T;ENSP00000221363:A380T	ENSP00000221363:A380T	A	-	1	0	MAN2B1	12630127	1.000000	0.71417	0.786000	0.31890	0.817000	0.46193	5.660000	0.68018	2.503000	0.84419	0.460000	0.39030	GCG	MAN2B1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000104774		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	49	0.00	0	C			12769127	12769127	-1	no_errors	ENST00000456935	ensembl	human	known	69_37n	missense	55	24.66	18	SNP	1.000	T
MAN2B2	23324	genome.wustl.edu	37	4	6594959	6594959	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:6594959A>G	ENST00000285599.3	+	6	776	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Y247C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	247					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						GATGGGGTGTACCCCAACATG	0.597																																						dbGAP											0													143.0	117.0	125.0					4																	6594959		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.740A>G	4.37:g.6594959A>G	ENSP00000285599:p.Tyr247Cys	Somatic		WXS	Illumina GAIIx	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.Y247C	ENST00000285599.3	37	c.740	CCDS33951.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.91|16.91	3.252403|3.252403	0.59212|0.59212	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.23754	.|1.89;1.89	4.7|4.7	3.49|3.49	0.39957|0.39957	.|Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	.|0.131310	.|0.52532	.|D	.|0.000061	T|T	0.53546|0.53546	0.1803|0.1803	M|M	0.88105|0.88105	2.93|2.93	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.994;0.999;0.996	T|T	0.56426|0.56426	-0.7981|-0.7981	5|10	.|0.59425	.|D	.|0.04	-26.4135|-26.4135	9.8771|9.8771	0.41211|0.41211	0.8468:0.0:0.0:0.1532|0.8468:0.0:0.0:0.1532	.|.	.|247;247;247	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	A|C	246|247	.|ENSP00000285599:Y247C;ENSP00000423129:Y247C	.|ENSP00000285599:Y247C	T|Y	+|+	1|2	0|0	MAN2B2|MAN2B2	6645860|6645860	1.000000|1.000000	0.71417|0.71417	0.051000|0.051000	0.19133|0.19133	0.880000|0.880000	0.50808|0.50808	4.790000|4.790000	0.62453|0.62453	0.621000|0.621000	0.30232|0.30232	0.448000|0.448000	0.29417|0.29417	ACC|TAC	MAN2B2	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000013288		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	91	0.00	0	A	NM_015274		6594959	6594959	+1	no_errors	ENST00000285599	ensembl	human	known	69_37n	missense	47	34.18	27	SNP	1.000	G
MAP1A	4130	genome.wustl.edu	37	15	43816227	43816227	+	Silent	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:43816227C>A	ENST00000300231.5	+	4	3006	c.2556C>A	c.(2554-2556)gcC>gcA	p.A852A	MAP1A_ENST00000382031.1_Silent_p.A1090A|MAP1A_ENST00000399453.1_Silent_p.A852A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	852					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AATCTGTGGCCTCACTTACAG	0.537																																						dbGAP											0													53.0	54.0	53.0					15																	43816227		2009	4187	6196	-	-	-	SO:0001819	synonymous_variant	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2556C>A	15.37:g.43816227C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.A852	ENST00000300231.5	37	c.2556	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	46	0.00	0	C	NM_002373		43816227	43816227	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	silent	59	13.24	9	SNP	0.991	A
MAP2K1	5604	genome.wustl.edu	37	15	66727540	66727540	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:66727540T>G	ENST00000307102.5	+	2	787	c.256T>G	c.(256-258)Tcc>Gcc	p.S86A		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GTTCAAGGTCTCCCACAAGCC	0.507																																						dbGAP											0													137.0	126.0	130.0					15																	66727540		2201	4299	6500	-	-	-	SO:0001583	missense	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.256T>G	15.37:g.66727540T>G	ENSP00000302486:p.Ser86Ala	Somatic		WXS	Illumina GAIIx	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.S86A	ENST00000307102.5	37	c.256	CCDS10216.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.74|10.74	1.436606|1.436606	0.25813|0.25813	.|.	.|.	ENSG00000169032|ENSG00000169032	ENST00000425818|ENST00000307102	.|D	.|0.93133	.|-3.17	5.24|5.24	4.1|4.1	0.47936|0.47936	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.237568	.|0.45361	.|N	.|0.000371	D|D	0.86033|0.86033	0.5836|0.5836	N|N	0.16708|0.16708	0.43|0.43	0.80722|0.80722	D|D	1|1	.|B;B	.|0.16166	.|0.016;0.004	.|B;B	.|0.23150	.|0.044;0.027	T|T	0.77978|0.77978	-0.2384|-0.2384	5|10	.|0.19147	.|T	.|0.46	-15.067|-15.067	11.5697|11.5697	0.50826|0.50826	0.0:0.0:0.1498:0.8502|0.0:0.0:0.1498:0.8502	.|.	.|64;86	.|B4DFY5;Q02750	.|.;MP2K1_HUMAN	R|A	25|86	.|ENSP00000302486:S86A	.|ENSP00000302486:S86A	L|S	+|+	2|1	0|0	MAP2K1|MAP2K1	64514594|64514594	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.431000|3.431000	0.52814|0.52814	0.819000|0.819000	0.34492|0.34492	0.482000|0.482000	0.46254|0.46254	CTC|TCC	MAP2K1	-	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	ENSG00000169032		0.507	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	55	0.00	0	T			66727540	66727540	+1	no_errors	ENST00000307102	ensembl	human	known	69_37n	missense	117	16.90	24	SNP	1.000	G
MAP3K14	9020	genome.wustl.edu	37	17	43367862	43367862	+	RNA	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:43367862C>A	ENST00000344686.2	-	0	358							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTACACTCAGCCTGGGCGATG	0.622																																						dbGAP											0													48.0	52.0	51.0					17																	43367862		2002	4166	6168	-	-	-			0			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43367862C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D8|D3DX67|Q8IYN1	RNA	SNP	-	NULL	ENST00000344686.2	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124759	0.77436	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.91	5.91	0.95273	.	0.080321	0.53938	D	0.000060	T	0.80138	0.4568	.	.	.	0.31642	N	0.647861	D	0.76494	0.999	D	0.78314	0.991	T	0.81143	-0.1067	7	0.66056	D	0.02	.	17.4506	0.87591	0.0:1.0:0.0:0.0	.	84	Q99558	M3K14_HUMAN	S	84	.	ENSP00000342059:A84S	A	-	1	0	MAP3K14	40723645	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	3.499000	0.53310	2.804000	0.96469	0.462000	0.41574	GCT	MAP3K14	-	-	ENSG00000006062		0.622	MAP3K14-201	KNOWN	basic	processed_transcript	MAP3K14	HGNC	processed_transcript		68	0.00	0	C	NM_003954		43367862	43367862	-1	no_errors	ENST00000344686	ensembl	human	known	69_37n	rna	27	44.90	22	SNP	1.000	A
MAP7D1	55700	genome.wustl.edu	37	1	36636587	36636587	+	Frame_Shift_Del	DEL	C	C	-	rs145462639		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:36636587delC	ENST00000373151.2	+	2	278	c.62delC	c.(61-63)accfs	p.T21fs	MAP7D1_ENST00000316156.4_Frame_Shift_Del_p.T21fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.T21fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GTCGCCAGGACCCCCCCAGAG	0.612																																						dbGAP											0													59.0	64.0	62.0					1																	36636587		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.62delC	1.37:g.36636587delC	ENSP00000362244:p.Thr21fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Del	DEL	pfam_E-MAP-115	p.P23fs	ENST00000373151.2	37	c.62	CCDS30673.1	1																																																																																			MAP7D1	-	NULL	ENSG00000116871		0.612	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	22	0.00	0	C	NM_018067		36636587	36636587	+1	no_errors	ENST00000373151	ensembl	human	known	69_37n	frame_shift_del	24	32.43	12	DEL	0.700	-
MAPK8IP2	23542	genome.wustl.edu	37	22	51043991	51043991	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:51043991T>C	ENST00000399908.2	+	5	1761	c.1045T>C	c.(1045-1047)Ttc>Ctc	p.F349L	MAPK8IP2_ENST00000008876.5_Splice_Site_p.F320L|MAPK8IP2_ENST00000329492.3_Splice_Site_p.F614L|MAPK8IP2_ENST00000341339.4_Splice_Site_p.F235L|MAPK8IP2_ENST00000442429.2_Splice_Site_p.F337L|MAPK8IP2_ENST00000399912.1_Splice_Site_p.F349L	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	615	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAACGGCAGGTTCATCCCGCG	0.652																																						dbGAP											0													21.0	26.0	25.0					22																	51043991		2014	4156	6170	-	-	-	SO:0001630	splice_region_variant	0			AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1044-1T>C	22.37:g.51043991T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.F614L	ENST00000399908.2	37	c.1840		22	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099560	0.76983	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	5.03	5.03	0.67393	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.75906	-0.3152	9	0.87932	D	0	-18.6035	12.7461	0.57281	0.0:0.0:0.0:1.0	.	587;615	E7EQG6;Q13387	.;JIP2_HUMAN	L	349;614;337;235;349;320	ENSP00000382796:F349L;ENSP00000330572:F614L;ENSP00000404914:F337L;ENSP00000340015:F235L;ENSP00000382792:F349L;ENSP00000008876:F320L	ENSP00000008876:F320L	F	+	1	0	MAPK8IP2	49390857	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	5.939000	0.70179	2.117000	0.64856	0.460000	0.39030	TTC	MAPK8IP2	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000008735		0.652	MAPK8IP2-002	KNOWN	basic	protein_coding	MAPK8IP2	HGNC	protein_coding	OTTHUMT00000316731.2	33	0.00	0	T	NM_012324	Missense_Mutation	51043991	51043991	+1	no_errors	ENST00000329492	ensembl	human	known	69_37n	missense	7	46.67	7	SNP	1.000	C
MAS1L	116511	genome.wustl.edu	37	6	29454984	29454984	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:29454984A>G	ENST00000377127.3	-	1	754	c.696T>C	c.(694-696)caT>caC	p.H232H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	232					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AAAGGATAGCATGGAAGAGCC	0.448																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													48.0	49.0	48.0					6																	29454984		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.696T>C	6.37:g.29454984A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.H232	ENST00000377127.3	37	c.696	CCDS4661.1	6																																																																																			MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204687		0.448	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	13	0.00	0	A	NM_052967		29454984	29454984	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.000	G
MBD3L4	653656	genome.wustl.edu	37	19	7040141	7040141	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:7040141C>T	ENST00000381394.4	-	1	49	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_001164419.1	NP_001157891.1	A6NDZ8	MB3L4_HUMAN	methyl-CpG binding domain protein 3-like 4	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)												AAGAGGTGAACGCAGGCTCTC	0.483																																						dbGAP											0													14.0	11.0	12.0					19																	7040141		614	1301	1915	-	-	-	SO:0001819	synonymous_variant	0				CCDS54205.1	19p13.2	2014-04-01			ENSG00000205718	ENSG00000205718			37206	protein-coding gene	gene with protein product							Standard	NM_001164419		Approved		uc021unr.1	A6NDZ8	OTTHUMG00000181974	ENST00000381394.4:c.15G>A	19.37:g.7040141C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.A5	ENST00000381394.4	37	c.15	CCDS54205.1	19																																																																																			MBD3L4	-	NULL	ENSG00000205718		0.483	MBD3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3L4	HGNC	protein_coding	OTTHUMT00000458498.1	55	0.00	0	C	NM_001164419		7040141	7040141	-1	no_errors	ENST00000381394	ensembl	human	known	69_37n	silent	66	31.96	31	SNP	0.000	T
MC4R	4160	genome.wustl.edu	37	18	58038839	58038839	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:58038839G>T	ENST00000299766.3	-	1	1162	c.744C>A	c.(742-744)acC>acA	p.T248T		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	248					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CAATCAGGATGGTCAAGGTAA	0.498																																						dbGAP											0													92.0	82.0	86.0					18																	58038839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.744C>A	18.37:g.58038839G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAC3|Q16317|Q3MIJ6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.T248	ENST00000299766.3	37	c.744	CCDS11976.1	18																																																																																			MC4R	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000166603		0.498	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	34	0.00	0	G	NM_005912		58038839	58038839	-1	no_errors	ENST00000299766	ensembl	human	known	69_37n	silent	43	24.56	14	SNP	1.000	T
MCPH1	79648	genome.wustl.edu	37	8	6302399	6302399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:6302399C>T	ENST00000344683.5	+	8	1232	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	MCPH1_ENST00000519480.1_Nonsense_Mutation_p.Q386*|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.Q338*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	386					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GCCGAGGCTGCAGCTGTGCAG	0.517																																					Colon(95;1448 1467 8277 34473 35819)	dbGAP											0													47.0	50.0	49.0					8																	6302399		2020	4182	6202	-	-	-	SO:0001587	stop_gained	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1156C>T	8.37:g.6302399C>T	ENSP00000342924:p.Gln386*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q386*	ENST00000344683.5	37	c.1156	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030252	0.75504	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	4.56	2.6	0.31112	.	0.938103	0.09080	N	0.851388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-2.957	6.9686	0.24637	0.0:0.7677:0.0:0.2323	.	.	.	.	X	386;386;338	.	ENSP00000342924:Q386X	Q	+	1	0	MCPH1	6289807	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.176000	0.16782	0.371000	0.24564	0.655000	0.94253	CAG	MCPH1	-	pfam_Microcephalin	ENSG00000147316		0.517	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	25	0.00	0	C	NM_024596		6302399	6302399	+1	no_errors	ENST00000344683	ensembl	human	known	69_37n	nonsense	35	22.22	10	SNP	0.001	T
MED4	29079	genome.wustl.edu	37	13	48660424	48660424	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:48660424T>G	ENST00000258648.2	-	3	382	c.357A>C	c.(355-357)caA>caC	p.Q119H	MED4_ENST00000378586.1_Missense_Mutation_p.Q73H	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	119					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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 cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TTACCAGTATTTGTTCTGCTT	0.328																																					Pancreas(38;399 1016 9170 13426 20145)	dbGAP											0													200.0	198.0	199.0					13																	48660424		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.357A>C	13.37:g.48660424T>G	ENSP00000258648:p.Gln119His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	pfam_Mediator_Med4	p.Q119H	ENST00000258648.2	37	c.357	CCDS9408.1	13	.	.	.	.	.	.	.	.	.	.	T	0.634	-0.815903	0.02776	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.42	-7.43	0.01383	.	0.046732	0.85682	D	0.000000	T	0.16981	0.0408	N	0.08118	0	0.25569	N	0.986911	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.0	T	0.08868	-1.0701	9	0.18710	T	0.47	-23.0898	13.5359	0.61646	0.0:0.5408:0.1202:0.339	.	97;119	E9PDW1;Q9NPJ6	.;MED4_HUMAN	H	119;97;73;97	.	ENSP00000258648:Q119H	Q	-	3	2	MED4	47558425	0.271000	0.24162	0.610000	0.28997	0.420000	0.31355	-0.694000	0.05115	-1.911000	0.01082	-1.889000	0.00537	CAA	MED4	-	pfam_Mediator_Med4	ENSG00000136146		0.328	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED4	HGNC	protein_coding	OTTHUMT00000044863.1	217	0.00	0	T	NM_014166		48660424	48660424	-1	no_errors	ENST00000258648	ensembl	human	known	69_37n	missense	215	18.18	48	SNP	0.325	G
MED4	29079	genome.wustl.edu	37	13	48660516	48660516	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:48660516T>G	ENST00000258648.2	-	3	290	c.265A>C	c.(265-267)Att>Ctt	p.I89L	MED4_ENST00000378586.1_Missense_Mutation_p.I43L	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	89					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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 cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TCATGATGAATTTTTCCCTGA	0.358																																					Pancreas(38;399 1016 9170 13426 20145)	dbGAP											0													143.0	132.0	136.0					13																	48660516		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.265A>C	13.37:g.48660516T>G	ENSP00000258648:p.Ile89Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	pfam_Mediator_Med4	p.I89L	ENST00000258648.2	37	c.265	CCDS9408.1	13	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929943	0.34096	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.3	0.865	0.19074	.	0.266673	0.42964	D	0.000631	T	0.27205	0.0667	N	0.05441	-0.05	0.36002	D	0.837422	B;B	0.22983	0.078;0.014	B;B	0.24848	0.056;0.011	T	0.13495	-1.0507	9	0.17832	T	0.49	-4.5046	9.1304	0.36841	0.0:0.3035:0.0:0.6965	.	67;89	E9PDW1;Q9NPJ6	.;MED4_HUMAN	L	89;67;43;67	.	ENSP00000258648:I89L	I	-	1	0	MED4	47558517	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.551000	0.23361	0.253000	0.21552	0.254000	0.18369	ATT	MED4	-	pfam_Mediator_Med4	ENSG00000136146		0.358	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED4	HGNC	protein_coding	OTTHUMT00000044863.1	181	0.00	0	T	NM_014166		48660516	48660516	-1	no_errors	ENST00000258648	ensembl	human	known	69_37n	missense	179	19.00	42	SNP	0.997	G
MEFV	4210	genome.wustl.edu	37	16	3293879	3293879	+	Silent	SNP	A	A	T	rs141706767		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:3293879A>T	ENST00000219596.1	-	9	1812	c.1773T>A	c.(1771-1773)atT>atA	p.I591I	MEFV_ENST00000541159.1_Missense_Mutation_p.W439R|MEFV_ENST00000339854.4_Silent_p.I411I|MEFV_ENST00000536379.1_Silent_p.I380I	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	591	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		I -> T (in arFMF; unknown pathological significance; dbSNP:rs11466045). {ECO:0000269|PubMed:12124996}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCTGAGCGCCAATCAGCTCCG	0.507																																						dbGAP											0													47.0	49.0	49.0					16																	3293879		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1773T>A	16.37:g.3293879A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_Znf_B-box,superfamily_DEATH-like,smart_Znf_B-box,pfscan_DAPIN,pfscan_Znf_B-box	p.W439R	ENST00000219596.1	37	c.1315	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	A	5.995	0.367541	0.11352	.	.	ENSG00000103313	ENST00000541159	T	0.62639	0.01	4.92	-4.82	0.03171	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47787	-0.9090	6	0.59425	D	0.04	-12.7302	0.2453	0.00198	0.2373:0.2738:0.1812:0.3077	.	.	.	.	R	439	ENSP00000438711:W439R	ENSP00000438711:W439R	W	-	1	0	MEFV	3233880	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.482000	0.06544	-1.007000	0.03408	0.533000	0.62120	TGG	MEFV	-	NULL	ENSG00000103313		0.507	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	44	0.00	0	A	NM_000243		3293879	3293879	-1	no_errors	ENST00000541159	ensembl	human	putative	69_37n	missense	23	55.77	29	SNP	0.000	T
MEP1A	4224	genome.wustl.edu	37	6	46793031	46793031	+	Silent	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:46793031C>A	ENST00000230588.4	+	8	588	c.579C>A	c.(577-579)acC>acA	p.T193T		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	193	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACTTTGACACCTATGATGATA	0.418																																						dbGAP											0													146.0	125.0	132.0					6																	46793031		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.579C>A	6.37:g.46793031C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.T193	ENST00000230588.4	37	c.579	CCDS4918.1	6																																																																																			MEP1A	-	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo	ENSG00000112818		0.418	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	66	0.00	0	C	NM_005588		46793031	46793031	+1	no_errors	ENST00000230588	ensembl	human	known	69_37n	silent	70	42.62	52	SNP	0.998	A
MEP1A	4224	genome.wustl.edu	37	6	46802999	46802999	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:46802999C>T	ENST00000230588.4	+	13	1806	c.1797C>T	c.(1795-1797)ctC>ctT	p.L599L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	599					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCACCCACCTCAGCCAGACTG	0.502																																						dbGAP											0													15.0	13.0	14.0					6																	46802999		2202	4296	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1797C>T	6.37:g.46802999C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.L599	ENST00000230588.4	37	c.1797	CCDS4918.1	6																																																																																			MEP1A	-	pirsf_Pept_M12A_Meprin	ENSG00000112818		0.502	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	24	0.00	0	C	NM_005588		46802999	46802999	+1	no_errors	ENST00000230588	ensembl	human	known	69_37n	silent	23	39.47	15	SNP	0.011	T
MFHAS1	9258	genome.wustl.edu	37	8	8747996	8747996	+	Missense_Mutation	SNP	A	A	T	rs151104597		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:8747996A>T	ENST00000276282.6	-	1	3159	c.2573T>A	c.(2572-2574)gTg>gAg	p.V858E		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	858										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGCATGGGGCACCTCGTTCTG	0.483																																					Melanoma(103;1201 2045 17515 28966)	dbGAP											0													81.0	77.0	78.0					8																	8747996		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2573T>A	8.37:g.8747996A>T	ENSP00000276282:p.Val858Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CI0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V858E	ENST00000276282.6	37	c.2573	CCDS34844.1	8	.	.	.	.	.	.	.	.	.	.	A	14.88	2.665992	0.47677	.	.	ENSG00000147324	ENST00000276282	T	0.34472	1.36	5.04	5.04	0.67666	.	0.259824	0.30311	N	0.009913	T	0.13415	0.0325	N	0.03608	-0.345	0.36593	D	0.87419	B	0.14438	0.01	B	0.10450	0.005	T	0.19031	-1.0318	10	0.02654	T	1	.	8.7228	0.34452	0.9163:0.0:0.0837:0.0	.	858	Q9Y4C4	MFHA1_HUMAN	E	858	ENSP00000276282:V858E	ENSP00000276282:V858E	V	-	2	0	MFHAS1	8785406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.330000	0.59266	2.133000	0.65898	0.533000	0.62120	GTG	MFHAS1	-	NULL	ENSG00000147324		0.483	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	HGNC	protein_coding	OTTHUMT00000374724.2	29	0.00	0	A	NM_004225		8747996	8747996	-1	no_errors	ENST00000276282	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	1.000	T
MFI2	4241	genome.wustl.edu	37	3	196749976	196749976	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:196749976C>G	ENST00000296350.5	-	5	609	c.496G>C	c.(496-498)Gac>Cac	p.D166H	MFI2_ENST00000296351.4_Missense_Mutation_p.D166H	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	166	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCAAAATAGTCGCTGACAGCT	0.622																																						dbGAP											0													34.0	38.0	37.0					3																	196749976		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.496G>C	3.37:g.196749976C>G	ENSP00000296350:p.Asp166His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQE2	Missense_Mutation	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.D166H	ENST00000296350.5	37	c.496	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519434	0.27211	.	.	ENSG00000163975	ENST00000296350;ENST00000296351	T;T	0.35048	2.44;1.33	5.91	2.77	0.32553	.	0.474932	0.26665	N	0.023121	T	0.34221	0.0890	L	0.58669	1.825	0.09310	N	1	P;B	0.45283	0.855;0.119	B;B	0.41571	0.36;0.111	T	0.18147	-1.0346	10	0.49607	T	0.09	-29.2293	10.6335	0.45551	0.0:0.771:0.0:0.229	.	166;166	Q53XS6;P08582	.;TRFM_HUMAN	H	166	ENSP00000296350:D166H;ENSP00000296351:D166H	ENSP00000296350:D166H	D	-	1	0	MFI2	198234373	0.157000	0.22836	0.115000	0.21578	0.979000	0.70002	1.389000	0.34453	0.851000	0.35264	-0.794000	0.03295	GAC	MFI2	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	ENSG00000163975		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	18	0.00	0	C			196749976	196749976	-1	no_errors	ENST00000296350	ensembl	human	known	69_37n	missense	11	64.52	20	SNP	0.015	G
MIA3	375056	genome.wustl.edu	37	1	222825650	222825650	+	Silent	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:222825650T>A	ENST00000344922.5	+	13	4087	c.4062T>A	c.(4060-4062)gcT>gcA	p.A1354A	MIA3_ENST00000344441.6_Silent_p.A1354A|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Silent_p.A232A	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1354					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGAAAATGCTAGGCTTAAGA	0.398																																						dbGAP											0													146.0	138.0	140.0					1																	222825650		1863	4099	5962	-	-	-	SO:0001819	synonymous_variant	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4062T>A	1.37:g.222825650T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain	p.A1354	ENST00000344922.5	37	c.4062	CCDS41470.1	1																																																																																			MIA3	-	NULL	ENSG00000154305		0.398	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	100	0.00	0	T	NM_198551		222825650	222825650	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	silent	102	31.54	47	SNP	0.035	A
MICAL2	9645	genome.wustl.edu	37	11	12281437	12281437	+	Frame_Shift_Del	DEL	C	C	-	rs373421937		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:12281437delC	ENST00000256194.4	+	26	3615	c.3327delC	c.(3325-3327)agcfs	p.S1109fs	MICAL2_ENST00000342902.5_Frame_Shift_Del_p.S1088fs|MICAL2_ENST00000537344.1_Frame_Shift_Del_p.S919fs|MICAL2_ENST00000379612.3_Frame_Shift_Del_p.S883fs|MICAL2_ENST00000527546.1_Frame_Shift_Del_p.S919fs|RP11-265D17.2_ENST00000527288.1_RNA	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1109					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGAAGGCAGCCCCCCAGGTA	0.622																																						dbGAP											0													34.0	35.0	35.0					11																	12281437		2201	4294	6495	-	-	-	SO:0001589	frameshift_variant	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3327delC	11.37:g.12281437delC	ENSP00000256194:p.Ser1109fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Frame_Shift_Del	DEL	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM	p.P1111fs	ENST00000256194.4	37	c.3327	CCDS7809.1	11																																																																																			MICAL2	-	NULL	ENSG00000133816		0.622	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	47	0.00	0	C	NM_014632		12281437	12281437	+1	no_errors	ENST00000256194	ensembl	human	known	69_37n	frame_shift_del	54	32.10	26	DEL	1.000	-
MINA	84864	genome.wustl.edu	37	3	97673260	97673260	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:97673260A>G	ENST00000333396.7	-	5	1343	c.761T>C	c.(760-762)gTg>gCg	p.V254A	MINA_ENST00000394198.2_Missense_Mutation_p.V254A|MINA_ENST00000330299.2_Missense_Mutation_p.V254A|MINA_ENST00000360258.4_Missense_Mutation_p.V254A	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						GCTGATGGTCACGTGAGTAGA	0.542																																						dbGAP											0													122.0	105.0	110.0					3																	97673260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.761T>C	3.37:g.97673260A>G	ENSP00000328251:p.Val254Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_JmjC_dom,pfscan_JmjC_dom	p.V254A	ENST00000333396.7	37	c.761	CCDS43114.1	3	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577480	0.65878	.	.	ENSG00000170854	ENST00000333396;ENST00000394198;ENST00000360258;ENST00000330299;ENST00000507612	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.36	5.36	0.76844	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.329487	0.34133	N	0.004230	T	0.28167	0.0695	M	0.64170	1.965	0.50171	D	0.999859	P;P	0.38020	0.561;0.615	B;P	0.44696	0.329;0.458	T	0.02184	-1.1199	10	0.56958	D	0.05	-8.9392	15.3136	0.74056	1.0:0.0:0.0:0.0	.	254;254	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	A	254;254;254;254;100	ENSP00000328251:V254A;ENSP00000377748:V254A;ENSP00000353395:V254A;ENSP00000327424:V254A;ENSP00000424530:V100A	ENSP00000327424:V254A	V	-	2	0	MINA	99155950	1.000000	0.71417	0.971000	0.41717	0.574000	0.36063	8.217000	0.89766	2.140000	0.66376	0.533000	0.62120	GTG	MINA	-	pfam_JmjC_dom,pfscan_JmjC_dom	ENSG00000170854		0.542	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MINA	HGNC	protein_coding	OTTHUMT00000359244.3	93	0.00	0	A	NM_032778		97673260	97673260	-1	no_errors	ENST00000333396	ensembl	human	known	69_37n	missense	107	28.19	42	SNP	1.000	G
MIR1257	100302168	genome.wustl.edu	37	20	60528663	60528663	+	RNA	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:60528663C>T	ENST00000408490.1	-	0	55					NR_031658.1				microRNA 1257																		CAGGGGCCCACAGGGGTGCAT	0.657																																						dbGAP											0													18.0	22.0	20.0					20																	60528663		1528	3495	5023	-	-	-			0					20q13.33	2011-09-12		2008-12-18	ENSG00000221417	ENSG00000221417		"""ncRNAs / Micro RNAs"""	35322	non-coding RNA	RNA, micro				MIRN1257			Standard	NR_031658		Approved	hsa-mir-1257	uc021wfv.1				20.37:g.60528663C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000408490.1	37	NULL		20																																																																																			MIR1257	-	-	ENSG00000221417		0.657	MIR1257-201	KNOWN	basic	miRNA	MIR1257	HGNC	miRNA		26	0.00	0	C	NR_031658		60528663	60528663	-1	no_errors	ENST00000408490	ensembl	human	known	69_37n	rna	26	23.53	8	SNP	0.011	T
NANOS3	342977	genome.wustl.edu	37	19	13985568	13985568	+	5'Flank	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:13985568G>A	ENST00000397555.2	+	0	0				NANOS3_ENST00000339133.5_5'Flank|MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)						germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGTTTGGGCAGCTCAGGCAAA	0.607																																						dbGAP											0													75.0	75.0	75.0					19																	13985568		1568	3582	5150	-	-	-	SO:0001631	upstream_gene_variant	0			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323			19.37:g.13985568G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495E5	RNA	SNP	-	NULL	ENST00000397555.2	37	NULL		19																																																																																			MIR181C	-	-	ENSG00000207613		0.607	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	MIR181C	HGNC	protein_coding		66	0.00	0	G	XM_292819		13985568	13985568	+1	no_errors	ENST00000384881	ensembl	human	known	69_37n	rna	77	12.50	11	SNP	0.981	A
MLEC	9761	genome.wustl.edu	37	12	121132901	121132901	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:121132901T>C	ENST00000228506.3	+	4	1023	c.595T>C	c.(595-597)Tac>Cac	p.Y199H	MLEC_ENST00000412616.2_Intron|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	199					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TTCCTAGGGGTACTATGACAA	0.488																																						dbGAP											0													382.0	358.0	366.0					12																	121132901		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.595T>C	12.37:g.121132901T>C	ENSP00000228506:p.Tyr199His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Malectin	p.Y199H	ENST00000228506.3	37	c.595	CCDS9206.1	12	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781868	0.31502	.	.	ENSG00000110917	ENST00000228506;ENST00000545525	.	.	.	5.5	4.34	0.51931	Malectin (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	L	0.51422	1.61	0.80722	D	1	B	0.28900	0.227	B	0.33750	0.169	T	0.48031	-0.9070	9	0.18276	T	0.48	.	12.1497	0.54044	0.1283:0.0:0.0:0.8716	.	199	Q14165	MLEC_HUMAN	H	199;116	.	ENSP00000228506:Y199H	Y	+	1	0	MLEC	119617284	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	5.707000	0.68370	1.013000	0.39391	0.533000	0.62120	TAC	MLEC	-	pfam_Malectin	ENSG00000110917		0.488	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	HGNC	protein_coding	OTTHUMT00000402781.2	279	0.00	0	T	NM_014730		121132901	121132901	+1	no_errors	ENST00000228506	ensembl	human	known	69_37n	missense	178	43.26	138	SNP	1.000	C
MLH1	4292	genome.wustl.edu	37	3	37045916	37045916	+	Missense_Mutation	SNP	G	G	C	rs587779005		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:37045916G>C	ENST00000231790.2	+	4	547	c.331G>C	c.(331-333)Gct>Cct	p.A111P	MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.A13P|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	111			A -> V (in HNPCC2; unknown pathological significance). {ECO:0000269|PubMed:10777691, ECO:0000269|PubMed:16451135}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGCCATGTGGCTCATGTTAC	0.393		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	0													169.0	168.0	168.0					3																	37045916		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.331G>C	3.37:g.37045916G>C	ENSP00000231790:p.Ala111Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	p.A111P	ENST00000231790.2	37	c.331	CCDS2663.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.593876|5.593876	0.96602|0.96602	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000435176;ENST00000429117|ENST00000456676	D;D;T|.	0.91686|.	-2.89;-2.89;-0.99|.	6.02|6.02	6.02|6.02	0.97574|0.97574	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91686|0.91686	0.7372|0.7372	H|H	0.99225|0.99225	4.475|4.475	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.996;0.999;0.999|.	D|D	0.94496|0.94496	0.7705|0.7705	10|5	0.87932|.	D|.	0|.	-18.8789|-18.8789	19.3087|19.3087	0.94175|0.94175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	13;111;111|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	P|C	111;77;77;13;13|102	ENSP00000231790:A111P;ENSP00000402564:A13P;ENSP00000407019:A13P|.	ENSP00000231790:A111P|.	A|W	+|+	1|3	0|0	MLH1|MLH1	37020920|37020920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.990000|8.990000	0.93510|0.93510	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCT|TGG	MLH1	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N	ENSG00000076242		0.393	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2	126	0.00	0	G	NM_000249		37045916	37045916	+1	no_errors	ENST00000231790	ensembl	human	known	69_37n	missense	89	43.31	68	SNP	1.000	C
MLH3	27030	genome.wustl.edu	37	14	75516229	75516229	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:75516229T>C	ENST00000556740.1	-	1	165	c.130A>G	c.(130-132)Agg>Ggg	p.R44G	MLH3_ENST00000355774.2_Missense_Mutation_p.R44G|MLH3_ENST00000238662.7_Missense_Mutation_p.R44G|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.R44G			Q9UHC1	MLH3_HUMAN	mutL homolog 3	44					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.R44G(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATATTCACCCTGACAGCCACA	0.443								Mismatch excision repair (MMR)																														dbGAP											2	Substitution - Missense(2)	endometrium(2)											120.0	108.0	112.0					14																	75516229		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.130A>G	14.37:g.75516229T>C	ENSP00000452316:p.Arg44Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.R44G	ENST00000556740.1	37	c.130	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507071	0.44558	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000553263;ENST00000557648	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	5.22	4.0	0.46444	ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.74009	-0.3802	10	0.72032	D	0.01	-14.1415	11.0915	0.48119	0.0:0.0:0.2838:0.7162	.	44;44	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	G	44	ENSP00000348020:R44G;ENSP00000238662:R44G;ENSP00000451540:R44G;ENSP00000452316:R44G;ENSP00000451192:R44G;ENSP00000451095:R44G	ENSP00000238662:R44G	R	-	1	2	MLH3	74585982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.556000	0.36288	2.095000	0.63458	0.533000	0.62120	AGG	MLH3	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd	ENSG00000119684		0.443	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	44	0.00	0	T	NM_014381		75516229	75516229	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	1.000	C
KMT2A	4297	genome.wustl.edu	37	11	118366575	118366575	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:118366575A>G	ENST00000389506.5	+	19	5515	c.5515A>G	c.(5515-5517)Act>Gct	p.T1839A	KMT2A_ENST00000354520.4_Missense_Mutation_p.T1801A|KMT2A_ENST00000534358.1_Missense_Mutation_p.T1842A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1839					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGACTCACCAACTCCTCTGCA	0.493																																						dbGAP											0													161.0	171.0	168.0					11																	118366575		2200	4296	6496	-	-	-	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5515A>G	11.37:g.118366575A>G	ENSP00000374157:p.Thr1839Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.T1839A	ENST00000389506.5	37	c.5515	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	A	11.74	1.729766	0.30684	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.80994	-1.44;-1.44;-1.44	5.52	5.52	0.82312	.	0.108661	0.64402	D	0.000005	T	0.60011	0.2236	N	0.08118	0	0.41759	D	0.989707	B;B	0.14012	0.002;0.009	B;B	0.09377	0.001;0.004	T	0.57751	-0.7757	10	0.08179	T	0.78	.	11.8684	0.52507	0.8542:0.1458:0.0:0.0	.	1842;1839	E9PQG7;Q03164	.;MLL1_HUMAN	A	1842;1839;1801;749	ENSP00000436786:T1842A;ENSP00000374157:T1839A;ENSP00000346516:T1801A	ENSP00000346516:T1801A	T	+	1	0	MLL	117871785	0.965000	0.33210	0.983000	0.44433	0.990000	0.78478	3.220000	0.51207	2.229000	0.72834	0.397000	0.26171	ACT	MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	65	0.00	0	A	NM_005933		118366575	118366575	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	missense	56	36.26	33	SNP	0.995	G
MLLT4	4301	genome.wustl.edu	37	6	168352743	168352743	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:168352743A>G	ENST00000447894.2	+	29	4688	c.4688A>G	c.(4687-4689)gAg>gGg	p.E1563G	MLLT4_ENST00000366806.2_Missense_Mutation_p.E1563G|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1546G|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1570G|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1562G|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1563G|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1563G			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1563					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCATGCTGGAGTGGCAGTTC	0.592			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													52.0	46.0	48.0					6																	168352743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4688A>G	6.37:g.168352743A>G	ENSP00000404595:p.Glu1563Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.E1563G	ENST00000447894.2	37	c.4688		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.8|29.8	5.033571|5.033571	0.93575|0.93575	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704;ENST00000476946	T;T;T;T;T;T;T|.	0.55052|.	2.76;0.54;2.78;0.54;0.54;0.82;0.54|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67979|0.67979	0.2951|0.2951	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.993;0.999;0.995;0.995|.	T|T	0.70135|0.70135	-0.4955|-0.4955	10|5	0.87932|.	D|.	0|.	-11.523|-11.523	15.3486|15.3486	0.74363|0.74363	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1563;1562;1563;1547|.	P55196;P55196-5;P55196-6;P55196-2|.	AFAD_HUMAN;.;.;.|.	G|G	1563;1570;1563;1563;1546;1563;1562;1563|54;39	ENSP00000341118:E1563G;ENSP00000252692:E1570G;ENSP00000375956:E1563G;ENSP00000355771:E1563G;ENSP00000375960:E1546G;ENSP00000383623:E1562G;ENSP00000404595:E1563G|.	ENSP00000345834:E1563G|.	E|S	+|+	2|1	0|0	MLLT4|MLLT4	168095592|168095592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.684000|8.684000	0.91242|0.91242	2.018000|2.018000	0.59344|0.59344	0.533000|0.533000	0.62120|0.62120	GAG|AGT	MLLT4	-	NULL	ENSG00000130396		0.592	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	33	0.00	0	A	NM_005936		168352743	168352743	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	23	54.00	27	SNP	1.000	G
MLLT4	4301	genome.wustl.edu	37	6	168369817	168369817	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:168369817A>T	ENST00000447894.2	+	32	5260	c.5260A>T	c.(5260-5262)Act>Tct	p.T1754S	MLLT4_ENST00000366806.2_Missense_Mutation_p.T1754S|MLLT4_ENST00000392112.1_Missense_Mutation_p.T1673S|MLLT4_ENST00000351017.4_Missense_Mutation_p.T1761S|MLLT4_ENST00000400822.3_Missense_Mutation_p.T1764S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1754					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCCAGGATCTACTGGAGCAGC	0.443			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													105.0	110.0	108.0					6																	168369817		1958	4143	6101	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.5260A>T	6.37:g.168369817A>T	ENSP00000404595:p.Thr1754Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.T1754S	ENST00000447894.2	37	c.5260		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.867|6.867	0.529305|0.529305	0.13127|0.13127	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000351017;ENST00000366806;ENST00000392112;ENST00000400822;ENST00000447894|ENST00000485634;ENST00000515794	T;T;T;T;T|.	0.06933|.	3.38;3.48;3.24;3.39;3.38|.	4.81|4.81	-9.62|-9.62	0.00547|0.00547	.|.	0.986667|.	0.08255|.	N|.	0.974053|.	T|T	0.23806|0.23806	0.0576|0.0576	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.34725|0.34725	-0.9817|-0.9817	10|5	0.40728|.	T|.	0.16|.	-0.5966|-0.5966	10.3373|10.3373	0.43858|0.43858	0.6344:0.0:0.0824:0.2831|0.6344:0.0:0.0824:0.2831	.|.	1764|.	P55196-5|.	.|.	S|F	1761;1754;1673;1764;1754|120;53	ENSP00000252692:T1761S;ENSP00000355771:T1754S;ENSP00000375960:T1673S;ENSP00000383623:T1764S;ENSP00000404595:T1754S|.	ENSP00000252692:T1761S|.	T|Y	+|+	1|2	0|0	MLLT4|MLLT4	168112666|168112666	0.010000|0.010000	0.17322|0.17322	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.583000|-0.583000	0.05807|0.05807	-3.087000|-3.087000	0.00249|0.00249	-2.200000|-2.200000	0.00306|0.00306	ACT|TAC	MLLT4	-	NULL	ENSG00000130396		0.443	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	71	0.00	0	A	NM_005936		168369817	168369817	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	115	17.27	24	SNP	0.002	T
MMD	23531	genome.wustl.edu	37	17	53481166	53481166	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:53481166T>C	ENST00000262065.3	-	5	704	c.408A>G	c.(406-408)gcA>gcG	p.A136A		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	136					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTCCTCCAGCTGCCATGAGCC	0.353																																						dbGAP											0													78.0	81.0	80.0					17																	53481166		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.408A>G	17.37:g.53481166T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6X9|D3DTY6|Q8TAN7	Silent	SNP	pfam_HlyIII-related,tigrfam_HylIII	p.A136	ENST00000262065.3	37	c.408	CCDS11586.1	17																																																																																			MMD	-	pfam_HlyIII-related,tigrfam_HylIII	ENSG00000108960		0.353	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMD	HGNC	protein_coding	OTTHUMT00000439214.1	48	0.00	0	T			53481166	53481166	-1	no_errors	ENST00000262065	ensembl	human	known	69_37n	silent	29	38.30	18	SNP	1.000	C
MMRN1	22915	genome.wustl.edu	37	4	90816143	90816143	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:90816143T>G	ENST00000394980.1	+	2	340	c.21T>G	c.(19-21)ttT>ttG	p.F7L	MMRN1_ENST00000264790.2_Missense_Mutation_p.F7L|MMRN1_ENST00000394981.1_Missense_Mutation_p.F7L			Q13201	MMRN1_HUMAN	multimerin 1	7					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAAGATTATTTGTCCTTCTTT	0.433																																						dbGAP											0													77.0	82.0	80.0					4																	90816143		2203	4300	6503	-	-	-	SO:0001583	missense	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.21T>G	4.37:g.90816143T>G	ENSP00000378431:p.Phe7Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.F7L	ENST00000394980.1	37	c.21	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864123	0.32884	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.64438	0.33;0.33;-0.1	4.91	1.16	0.20824	.	0.239662	0.29273	N	0.012639	T	0.39627	0.1085	N	0.25380	0.74	0.24412	N	0.994657	B;B	0.12013	0.004;0.005	B;B	0.14578	0.011;0.003	T	0.19811	-1.0294	10	0.09338	T	0.73	.	6.8009	0.23750	0.0:0.2879:0.0:0.7121	.	7;7	Q13201-2;Q13201	.;MMRN1_HUMAN	L	7	ENSP00000378431:F7L;ENSP00000264790:F7L;ENSP00000378432:F7L	ENSP00000264790:F7L	F	+	3	2	MMRN1	91035166	0.242000	0.23868	0.701000	0.30321	0.942000	0.58702	-0.292000	0.08332	0.110000	0.17919	0.460000	0.39030	TTT	MMRN1	-	NULL	ENSG00000138722		0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	39	0.00	0	T	NM_007351		90816143	90816143	+1	no_errors	ENST00000264790	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.973	G
MPDZ	8777	genome.wustl.edu	37	9	13216858	13216858	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:13216858G>T	ENST00000319217.7	-	10	1452	c.1205C>A	c.(1204-1206)cCt>cAt	p.P402H	MPDZ_ENST00000381015.4_Missense_Mutation_p.P402H|MPDZ_ENST00000447879.1_Missense_Mutation_p.P402H|MPDZ_ENST00000541718.1_Missense_Mutation_p.P402H|MPDZ_ENST00000536827.1_Missense_Mutation_p.P402H|MPDZ_ENST00000546205.1_Missense_Mutation_p.P402H|MPDZ_ENST00000381022.2_Missense_Mutation_p.P402H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	402	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GATTCCTGAAGGTTCTAAGAT	0.318																																						dbGAP											0													116.0	102.0	107.0					9																	13216858		1815	4062	5877	-	-	-	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1205C>A	9.37:g.13216858G>T	ENSP00000320006:p.Pro402His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.P402H	ENST00000319217.7	37	c.1205		9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683336	0.88542	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.77	5.77	0.91146	.	0.171017	0.28140	N	0.016448	T	0.55162	0.1903	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.962;0.974	T	0.51764	-0.8664	10	0.44086	T	0.13	.	19.9837	0.97340	0.0:0.0:1.0:0.0	.	402;402;402	B7ZMI4;O75970-3;O75970-2	.;.;.	H	402	ENSP00000320006:P402H;ENSP00000439807:P402H;ENSP00000370410:P402H;ENSP00000444151:P402H;ENSP00000415208:P402H;ENSP00000370403:P402H;ENSP00000446358:P402H	ENSP00000320006:P402H	P	-	2	0	MPDZ	13206858	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.143000	0.71756	2.723000	0.93209	0.655000	0.94253	CCT	MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107186		0.318	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	157	0.00	0	G	NM_003829		13216858	13216858	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	missense	302	17.44	64	SNP	1.000	T
MPRIP	23164	genome.wustl.edu	37	17	17053480	17053480	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:17053480T>A	ENST00000341712.4	+	12	1298	c.1298T>A	c.(1297-1299)aTt>aAt	p.I433N	MPRIP_ENST00000395804.3_Missense_Mutation_p.I433N|MPRIP_ENST00000395811.5_Missense_Mutation_p.I433N|MPRIP_ENST00000444976.1_Missense_Mutation_p.I395N			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	433	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATGGAGAAATTGACTTGTCC	0.473																																						dbGAP											0													170.0	162.0	164.0					17																	17053480		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1298T>A	17.37:g.17053480T>A	ENSP00000342379:p.Ile433Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_Ferritin/RR-like,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I433N	ENST00000341712.4	37	c.1298	CCDS32578.1	17	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820553	0.90873	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.98795	0.9594	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99716	1.1008	9	0.87932	D	0	.	15.6695	0.77262	0.0:0.0:0.0:1.0	.	433;433	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	N	395;433;433;433	ENSP00000400189:I395N;ENSP00000379156:I433N;ENSP00000379149:I433N;ENSP00000342379:I433N	ENSP00000342379:I433N	I	+	2	0	MPRIP	16994205	1.000000	0.71417	0.934000	0.37439	0.969000	0.65631	7.948000	0.87774	2.178000	0.69098	0.533000	0.62120	ATT	MPRIP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000133030		0.473	MPRIP-002	KNOWN	basic|CCDS	protein_coding	MPRIP	HGNC	protein_coding	OTTHUMT00000131587.1	63	0.00	0	T	NM_015134		17053480	17053480	+1	no_errors	ENST00000395811	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	1.000	A
MRC2	9902	genome.wustl.edu	37	17	60751429	60751429	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:60751429C>T	ENST00000303375.5	+	9	1869	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	489	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGTAGGAAGGCCGCTGGAACG	0.592																																						dbGAP											0													40.0	30.0	34.0					17																	60751429		2160	4222	6382	-	-	-	SO:0001819	synonymous_variant	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1467C>T	17.37:g.60751429C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,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,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.G489	ENST00000303375.5	37	c.1467	CCDS11634.1	17																																																																																			MRC2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000011028		0.592	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	41	0.00	0	C			60751429	60751429	+1	no_errors	ENST00000303375	ensembl	human	known	69_37n	silent	30	43.40	23	SNP	0.912	T
MRGPRX1	259249	genome.wustl.edu	37	11	18955941	18955941	+	Missense_Mutation	SNP	G	G	A	rs111448117	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:18955941G>A	ENST00000302797.3	-	1	615	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	131					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGGTGGCAGCGGTACCAGATG	0.607																																						dbGAP											0													89.0	79.0	83.0					11																	18955941		2194	4286	6480	-	-	-	SO:0001583	missense	0				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.391C>T	11.37:g.18955941G>A	ENSP00000305766:p.Arg131Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.R131C	ENST00000302797.3	37	c.391	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	13.35	2.211438	0.39102	.	.	ENSG00000170255	ENST00000302797	T	0.10099	2.91	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.176763	0.40818	N	0.001008	T	0.17916	0.0430	M	0.86805	2.84	0.09310	N	0.999998	P	0.38300	0.626	B	0.41236	0.351	T	0.11203	-1.0597	10	0.87932	D	0	.	6.2841	0.21023	0.0:0.0:0.7039:0.2961	.	131	Q96LB2	MRGX1_HUMAN	C	131	ENSP00000305766:R131C	ENSP00000305766:R131C	R	-	1	0	MRGPRX1	18912517	0.000000	0.05858	0.908000	0.35775	0.421000	0.31385	0.240000	0.18042	1.579000	0.49836	0.491000	0.48974	CGC	MRGPRX1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170255		0.607	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	129	0.00	0	G	NM_147199		18955941	18955941	-1	no_errors	ENST00000302797	ensembl	human	known	69_37n	missense	154	15.85	29	SNP	0.124	A
MRPS26	64949	genome.wustl.edu	37	20	3028480	3028480	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:3028480G>T	ENST00000380325.3	+	4	707	c.583G>T	c.(583-585)Ggg>Tgg	p.G195W		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	195					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)	2						CACCAGAGAGGGGCTGGTGGT	0.587																																						dbGAP											0													60.0	50.0	53.0					20																	3028480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"""Mitochondrial ribosomal proteins / small subunits"""	14045	protein-coding gene	gene with protein product		611988	"""chromosome 20 open reading frame 193"""	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.583G>T	20.37:g.3028480G>T	ENSP00000369682:p.Gly195Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96Q58	Missense_Mutation	SNP	NULL	p.G195W	ENST00000380325.3	37	c.583	CCDS13043.1	20	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239483	0.79800	.	.	ENSG00000125901	ENST00000380325	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.83280	0.5220	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84898	0.0840	9	0.87932	D	0	-40.8241	18.1112	0.89537	0.0:0.0:1.0:0.0	.	195	Q9BYN8	RT26_HUMAN	W	195	.	ENSP00000369682:G195W	G	+	1	0	MRPS26	2976480	1.000000	0.71417	0.973000	0.42090	0.561000	0.35649	5.696000	0.68287	2.732000	0.93576	0.591000	0.81541	GGG	MRPS26	-	NULL	ENSG00000125901		0.587	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS26	HGNC	protein_coding	OTTHUMT00000077692.2	25	0.00	0	G	NM_030811		3028480	3028480	+1	no_errors	ENST00000380325	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	0.999	T
MTA2	9219	genome.wustl.edu	37	11	62365601	62365601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:62365601delA	ENST00000278823.2	-	6	774	c.385delT	c.(385-387)tacfs	p.Y129fs	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	129	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ACCAGTGAGTAAAAAAAGCAG	0.522																																						dbGAP											0													106.0	109.0	108.0					11																	62365601		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.385delT	11.37:g.62365601delA	ENSP00000278823:p.Tyr129fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DB1|Q9UQB5	Frame_Shift_Del	DEL	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.Y129fs	ENST00000278823.2	37	c.385	CCDS8022.1	11																																																																																			MTA2	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000149480		0.522	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	78	0.00	0	A	NM_004739		62365601	62365601	-1	no_errors	ENST00000278823	ensembl	human	known	69_37n	frame_shift_del	52	40.00	36	DEL	1.000	-
MTMR14	64419	genome.wustl.edu	37	3	9730753	9730753	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:9730753A>G	ENST00000296003.4	+	16	1542	c.1420A>G	c.(1420-1422)Act>Gct	p.T474A	MTMR14_ENST00000420925.1_Missense_Mutation_p.T228A|MTMR14_ENST00000351233.5_Missense_Mutation_p.T474A|MTMR14_ENST00000353332.5_Missense_Mutation_p.T474A	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	474					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AGGAGCGCCAACTCAGGCAGC	0.637																																						dbGAP											0													37.0	40.0	39.0					3																	9730753		2010	4176	6186	-	-	-	SO:0001583	missense	0			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1420A>G	3.37:g.9730753A>G	ENSP00000296003:p.Thr474Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	NULL	p.T474A	ENST00000296003.4	37	c.1420	CCDS43043.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.91|13.91	2.378833|2.378833	0.42207|0.42207	.|.	.|.	ENSG00000163719|ENSG00000163719	ENST00000419048|ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233	.|D	.|0.97114	.|-4.25	5.8|5.8	4.65|4.65	0.58169|0.58169	.|.	.|0.222920	.|0.48286	.|D	.|0.000197	D|D	0.91310|0.91310	0.7260|0.7260	N|N	0.20401|0.20401	0.57|0.57	0.22926|0.22926	N|N	0.998558|0.998558	.|B;B;B;B	.|0.10296	.|0.003;0.001;0.0;0.0	.|B;B;B;B	.|0.08055	.|0.003;0.001;0.002;0.001	T|T	0.79344|0.79344	-0.1842|-0.1842	6|10	0.14656|0.14252	T|T	0.56|0.57	-5.8452|-5.8452	7.7791|7.7791	0.29054|0.29054	0.7666:0.0:0.2334:0.0|0.7666:0.0:0.2334:0.0	.|.	.|228;474;474;474	.|C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.|.;.;.;MTMRE_HUMAN	S|A	473|474;228;474;474	.|ENSP00000401993:T228A	ENSP00000411890:N473S|ENSP00000296003:T474A	N|T	+|+	2|1	0|0	MTMR14|MTMR14	9705753|9705753	0.997000|0.997000	0.39634|0.39634	0.950000|0.950000	0.38849|0.38849	0.549000|0.549000	0.35272|0.35272	1.114000|1.114000	0.31196|0.31196	1.037000|1.037000	0.40024|0.40024	0.529000|0.529000	0.55759|0.55759	AAC|ACT	MTMR14	-	NULL	ENSG00000163719		0.637	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	32	0.00	0	A	NM_022485		9730753	9730753	+1	no_errors	ENST00000296003	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.906	G
MTMR3	8897	genome.wustl.edu	37	22	30415722	30415722	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:30415722A>G	ENST00000401950.2	+	17	2416	c.2074A>G	c.(2074-2076)Atc>Gtc	p.I692V	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.I692V|MTMR3_ENST00000323630.5_Missense_Mutation_p.I556V|MTMR3_ENST00000406629.1_Missense_Mutation_p.I692V|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.I692V	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	692					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GATGGAGAACATCTTGCAGGA	0.582																																						dbGAP											0													59.0	67.0	64.0					22																	30415722		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2074A>G	22.37:g.30415722A>G	ENSP00000384651:p.Ile692Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.I692V	ENST00000401950.2	37	c.2074	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683591	0.47991	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94232	-3.17;-3.15;-3.38;-3.2;-3.15	5.8	5.8	0.92144	.	5.892920	0.00166	N	0.000000	D	0.92711	0.7683	L	0.27053	0.805	0.58432	D	0.999991	D;D;D	0.56746	0.971;0.977;0.971	P;P;P	0.51866	0.682;0.569;0.682	T	0.82180	-0.0585	10	0.38643	T	0.18	.	9.7651	0.40557	0.9239:0.0:0.0761:0.0	.	692;692;692	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	V	692;692;556;692;692	ENSP00000384651:I692V;ENSP00000331649:I692V;ENSP00000318070:I556V;ENSP00000307271:I692V;ENSP00000384077:I692V	ENSP00000318070:I556V	I	+	1	0	MTMR3	28745722	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	8.355000	0.90083	2.209000	0.71365	0.533000	0.62120	ATC	MTMR3	-	NULL	ENSG00000100330		0.582	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	41	0.00	0	A	NM_021090		30415722	30415722	+1	no_errors	ENST00000401950	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	1.000	G
MUC12	10071	genome.wustl.edu	37	7	100636691	100636691	+	Silent	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:100636691C>G	ENST00000379442.3	+	5	3276	c.3276C>G	c.(3274-3276)ctC>ctG	p.L1092L	MUC12_ENST00000536621.1_Silent_p.L949L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1092	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						ACACAACACTCTTCCCTGACA	0.557																																						dbGAP											0													58.0	59.0	59.0					7																	100636691		535	1173	1708	-	-	-	SO:0001819	synonymous_variant	0			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.3276C>G	7.37:g.100636691C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.L1092	ENST00000379442.3	37	c.3276		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.557	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	164	0.00	0	C	XM_379904		100636691	100636691	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	205	19.92	51	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9066859	9066859	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:9066859T>C	ENST00000397910.4	-	3	20790	c.20587A>G	c.(20587-20589)Acc>Gcc	p.T6863A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6865	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGTGAGGTACTGCTCAAA	0.493																																						dbGAP											0													176.0	166.0	169.0					19																	9066859		2061	4213	6274	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20587A>G	19.37:g.9066859T>C	ENSP00000381008:p.Thr6863Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T6863A	ENST00000397910.4	37	c.20587	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	2.922	-0.222988	0.06061	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	2.33	-1.39	0.08997	.	.	.	.	.	T	0.22589	0.0545	L	0.53249	1.67	.	.	.	B	0.12013	0.005	B	0.16289	0.015	T	0.38672	-0.9650	8	0.87932	D	0	.	0.3337	0.00323	0.2221:0.1459:0.2278:0.4042	.	6863	B5ME49	.	A	6863	ENSP00000381008:T6863A	ENSP00000381008:T6863A	T	-	1	0	MUC16	8927859	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.625000	0.24477	-0.456000	0.07043	-1.637000	0.00776	ACC	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	182	0.54	1	T	NM_024690		9066859	9066859	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	234	15.00	42	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9077821	9077821	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:9077821T>C	ENST00000397910.4	-	3	9828	c.9625A>G	c.(9625-9627)Atg>Gtg	p.M3209V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3210	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGAGCTCATGATTTTGAGA	0.463																																						dbGAP											0													138.0	134.0	135.0					19																	9077821		1934	4137	6071	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9625A>G	19.37:g.9077821T>C	ENSP00000381008:p.Met3209Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.M3209V	ENST00000397910.4	37	c.9625	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	2.006	-0.428186	0.04701	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	1.86	-0.837	0.10766	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.17852	0.024	B	0.17979	0.02	T	0.38351	-0.9665	8	0.87932	D	0	.	6.9949	0.24777	0.0:0.0:0.642:0.358	.	3209	B5ME49	.	V	3209	ENSP00000381008:M3209V	ENSP00000381008:M3209V	M	-	1	0	MUC16	8938821	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.447000	0.06828	-0.247000	0.09597	0.260000	0.18958	ATG	MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	83	0.00	0	T	NM_024690		9077821	9077821	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	60	34.41	32	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9083271	9083271	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:9083271T>C	ENST00000397910.4	-	1	8747	c.8544A>G	c.(8542-8544)atA>atG	p.I2848M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2848	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTCACAGGTATCCCTTTGG	0.537																																						dbGAP											0													95.0	92.0	93.0					19																	9083271		2036	4191	6227	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8544A>G	19.37:g.9083271T>C	ENSP00000381008:p.Ile2848Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.I2848M	ENST00000397910.4	37	c.8544	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	1.012	-0.687684	0.03328	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.869	-1.74	0.08056	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.47603	0.551	T	0.44329	-0.9335	8	0.87932	D	0	.	4.986	0.14190	0.0:0.0:0.5429:0.4571	.	2848	B5ME49	.	M	2848	ENSP00000381008:I2848M	ENSP00000381008:I2848M	I	-	3	3	MUC16	8944271	0.001000	0.12720	0.000000	0.03702	0.149000	0.21700	-0.093000	0.11111	-1.085000	0.03088	0.260000	0.18958	ATA	MUC16	-	NULL	ENSG00000181143		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	176	0.56	1	T	NM_024690		9083271	9083271	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	125	36.50	73	SNP	0.000	C
MUSK	4593	genome.wustl.edu	37	9	113562979	113562979	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:113562979delT	ENST00000374448.4	+	15	2455	c.2321delT	c.(2320-2322)attfs	p.I774fs	MUSK_ENST00000189978.5_Frame_Shift_Del_p.I774fs|MUSK_ENST00000416899.2_Frame_Shift_Del_p.I766fs	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGTCCATTTTTTATAAC	0.507																																						dbGAP											0													91.0	89.0	90.0					9																	113562979		1957	4139	6096	-	-	-	SO:0001589	frameshift_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2321delT	9.37:g.113562979delT	ENSP00000363571:p.Ile774fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y782fs	ENST00000374448.4	37	c.2339	CCDS48005.1	9																																																																																			MUSK	-	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	ENSG00000030304		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		61	0.00	0	T			113562979	113562979	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	frame_shift_del	79	11.11	10	DEL	1.000	-
MYH10	4628	genome.wustl.edu	37	17	8480563	8480563	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:8480563A>G	ENST00000269243.4	-	5	762	c.624T>C	c.(622-624)caT>caC	p.H208H	MYH10_ENST00000360416.3_Silent_p.H208H|MYH10_ENST00000379980.4_Silent_p.H208H|MYH10_ENST00000396239.1_Silent_p.H208H	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	208	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAGGAATATTATGGTCCTTTC	0.373																																						dbGAP											0													102.0	103.0	103.0					17																	8480563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.624T>C	17.37:g.8480563A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.H208	ENST00000269243.4	37	c.624	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133026		0.373	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	93	0.00	0	A			8480563	8480563	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	silent	77	41.67	55	SNP	1.000	G
MYH9	4627	genome.wustl.edu	37	22	36700141	36700141	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:36700141G>A	ENST00000216181.5	-	19	2520	c.2290C>T	c.(2290-2292)Cgt>Tgt	p.R764C		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	764	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						ACACCGGCACGGAAGAAGACT	0.597			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													72.0	66.0	68.0					22																	36700141		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.2290C>T	22.37:g.36700141G>A	ENSP00000216181:p.Arg764Cys	Somatic		WXS	Illumina GAIIx	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,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.R764C	ENST00000216181.5	37	c.2290	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021983	0.75275	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.74842	-0.88	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94245	0.7488	10	0.87932	D	0	.	14.7228	0.69320	0.0:0.0:0.8462:0.1538	.	764	P35579	MYH9_HUMAN	C	628;764	ENSP00000216181:R764C	ENSP00000216181:R764C	R	-	1	0	MYH9	35030087	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.396000	0.44468	2.553000	0.86117	0.655000	0.94253	CGT	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000100345		0.597	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	36	0.00	0	G	NM_002473		36700141	36700141	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	missense	26	35.00	14	SNP	1.000	A
MYNN	55892	genome.wustl.edu	37	3	169500427	169500427	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:169500427T>A	ENST00000349841.5	+	5	2058	c.1395T>A	c.(1393-1395)caT>caA	p.H465Q	MYNN_ENST00000392733.1_Missense_Mutation_p.H465Q|MYNN_ENST00000356716.4_Missense_Mutation_p.H465Q|MYNN_ENST00000544106.1_Missense_Mutation_p.H465Q|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	465					regulation of transcription, DNA-templated (GO:0006355)|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)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTCGAAAACATACAGGTAAGT	0.393																																						dbGAP											0													130.0	116.0	120.0					3																	169500427		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1395T>A	3.37:g.169500427T>A	ENSP00000326240:p.His465Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H465Q	ENST00000349841.5	37	c.1395	CCDS3207.1	3	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117904	0.77323	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.88	-2.64	0.06114	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	0.82139	0.4972	M	0.91768	3.24	0.47276	D	0.999373	D;D	0.89917	1.0;0.999	D;D	0.80764	0.993;0.994	T	0.83198	-0.0080	10	0.87932	D	0	.	13.4567	0.61204	0.0:0.4962:0.0:0.5038	.	465;465	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	Q	465	ENSP00000349150:H465Q;ENSP00000326240:H465Q;ENSP00000376492:H465Q;ENSP00000440637:H465Q	ENSP00000326240:H465Q	H	+	3	2	MYNN	170983121	1.000000	0.71417	0.969000	0.41365	0.934000	0.57294	0.753000	0.26376	-0.735000	0.04837	-0.250000	0.11733	CAT	MYNN	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000085274		0.393	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	95	0.00	0	T	NM_018657		169500427	169500427	+1	no_errors	ENST00000349841	ensembl	human	known	69_37n	missense	167	18.14	37	SNP	0.996	A
MYO9A	4649	genome.wustl.edu	37	15	72146807	72146807	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:72146807A>G	ENST00000356056.5	-	35	6729	c.6257T>C	c.(6256-6258)aTt>aCt	p.I2086T	MYO9A_ENST00000564571.1_Missense_Mutation_p.I2086T|MYO9A_ENST00000424560.1_Missense_Mutation_p.I2157T|MYO9A_ENST00000444904.1_Missense_Mutation_p.I2067T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2086	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						ATGCATTTCAATGTAGTTTAT	0.423																																						dbGAP											0													160.0	146.0	151.0					15																	72146807		2199	4297	6496	-	-	-	SO:0001583	missense	0			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.6257T>C	15.37:g.72146807A>G	ENSP00000348349:p.Ile2086Thr	Somatic		WXS	Illumina GAIIx	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.I2157T	ENST00000356056.5	37	c.6470	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651277	0.88056	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.55760	0.5;0.5;0.5	5.99	5.99	0.97316	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.81302	0.4794	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86944	0.2081	9	0.87932	D	0	.	16.4719	0.84113	1.0:0.0:0.0:0.0	.	2086	B2RTY4	MYO9A_HUMAN	T	2086;2157;2067	ENSP00000348349:I2086T;ENSP00000399162:I2157T;ENSP00000398250:I2067T	ENSP00000348349:I2086T	I	-	2	0	MYO9A	69933861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.292000	0.77174	0.482000	0.46254	ATT	MYO9A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000066933		0.423	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	76	0.00	0	A	NM_006901		72146807	72146807	-1	no_errors	ENST00000424560	ensembl	human	known	69_37n	missense	116	15.94	22	SNP	1.000	G
MYO9A	4649	genome.wustl.edu	37	15	72152111	72152111	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:72152111A>G	ENST00000356056.5	-	34	6590	c.6118T>C	c.(6118-6120)Tgc>Cgc	p.C2040R	MYO9A_ENST00000564571.1_Missense_Mutation_p.C2040R|RNA5SP399_ENST00000364003.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.C2111R|MYO9A_ENST00000444904.1_Missense_Mutation_p.C2021R	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2040	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						TTCAGACAGCACTTCTTATGG	0.348																																						dbGAP											0													119.0	118.0	118.0					15																	72152111		2199	4297	6496	-	-	-	SO:0001583	missense	0			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.6118T>C	15.37:g.72152111A>G	ENSP00000348349:p.Cys2040Arg	Somatic		WXS	Illumina GAIIx	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.C2111R	ENST00000356056.5	37	c.6331	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077882	0.76528	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.94417	-3.42;-3.42;-3.42	5.02	5.02	0.67125	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	.	.	.	.	D	0.97952	0.9326	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99198	1.0872	9	0.87932	D	0	.	14.7384	0.69434	1.0:0.0:0.0:0.0	.	2040	B2RTY4	MYO9A_HUMAN	R	2040;2111;2021	ENSP00000348349:C2040R;ENSP00000399162:C2111R;ENSP00000398250:C2021R	ENSP00000348349:C2040R	C	-	1	0	MYO9A	69939165	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.856000	0.92245	1.881000	0.54492	0.528000	0.53228	TGC	MYO9A	-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000066933		0.348	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	114	0.00	0	A	NM_006901		72152111	72152111	-1	no_errors	ENST00000424560	ensembl	human	known	69_37n	missense	134	24.58	44	SNP	1.000	G
MYOM3	127294	genome.wustl.edu	37	1	24393521	24393521	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:24393521A>G	ENST00000374434.3	-	28	3575	c.3413T>C	c.(3412-3414)cTg>cCg	p.L1138P	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.L1138P|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_5'Flank|MYOM3_ENST00000330966.7_Missense_Mutation_p.L1141P	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1138	Ig-like C2-type 3.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTGCACGTCAGCTGCACTTG	0.642																																						dbGAP											0													20.0	22.0	21.0					1																	24393521		1997	4136	6133	-	-	-	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3413T>C	1.37:g.24393521A>G	ENSP00000363557:p.Leu1138Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1141P	ENST00000374434.3	37	c.3422	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300047	0.81136	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	D;D;T	0.83755	-1.76;-1.76;-0.37	5.35	5.35	0.76521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.206543	0.42053	D	0.000776	D	0.89234	0.6657	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.80764	0.994;0.93	D	0.90385	0.4391	10	0.87932	D	0	.	15.3226	0.74135	1.0:0.0:0.0:0.0	.	1138;1138	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	P	1138;1141;1138	ENSP00000363557:L1138P;ENSP00000332670:L1141P;ENSP00000328415:L1138P	ENSP00000328415:L1138P	L	-	2	0	MYOM3	24266108	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.186000	0.89706	2.028000	0.59812	0.402000	0.26972	CTG	MYOM3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000142661		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	37	0.00	0	A	NM_152372		24393521	24393521	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	1.000	G
MYOT	9499	genome.wustl.edu	37	5	137219153	137219153	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:137219153A>G	ENST00000239926.4	+	7	1271	c.897A>G	c.(895-897)atA>atG	p.I299M	MYOT_ENST00000515645.1_Missense_Mutation_p.I184M|MYOT_ENST00000421631.2_Missense_Mutation_p.I115M|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	299	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACAAAATGATAGTGTCTGAGA	0.433																																						dbGAP											0													135.0	125.0	129.0					5																	137219153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.897A>G	5.37:g.137219153A>G	ENSP00000239926:p.Ile299Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A4R6|B4DT79	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I299M	ENST00000239926.4	37	c.897	CCDS4194.1	5	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417177	0.62511	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66815	-0.23;-0.23;-0.23	5.08	2.64	0.31445	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75860	0.3907	M	0.75615	2.305	0.44098	D	0.996862	D	0.69078	0.997	D	0.70016	0.967	T	0.72727	-0.4206	10	0.59425	D	0.04	.	5.2408	0.15471	0.532:0.0:0.0737:0.3943	.	299	Q9UBF9	MYOTI_HUMAN	M	299;115;184	ENSP00000239926:I299M;ENSP00000391185:I115M;ENSP00000426281:I184M	ENSP00000239926:I299M	I	+	3	3	MYOT	137247052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.032000	0.57274	0.331000	0.23511	-0.336000	0.08194	ATA	MYOT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000120729		0.433	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2	99	0.00	0	A	NM_006790		137219153	137219153	+1	no_errors	ENST00000239926	ensembl	human	known	69_37n	missense	103	36.02	58	SNP	1.000	G
N4BP2L2	10443	genome.wustl.edu	37	13	33110048	33110048	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:33110048A>G	ENST00000267068.3	-	2	1281	c.1117T>C	c.(1117-1119)Tgg>Cgg	p.W373R	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.W373R|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	373					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGATCTTTCCAGCATCTTTCT	0.388																																						dbGAP											0													148.0	140.0	143.0					13																	33110048		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1117T>C	13.37:g.33110048A>G	ENSP00000267068:p.Trp373Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KME8	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.W373R	ENST00000267068.3	37	c.1117	CCDS9346.1	13	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788823	0.31685	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.77620	-0.9;-1.11;-1.06	5.7	5.7	0.88788	.	.	.	.	.	D	0.86222	0.5881	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87550	0.2464	9	0.87932	D	0	-14.2291	14.5507	0.68065	1.0:0.0:0.0:0.0	.	373;373	D6R968;Q92802	.;N42L2_HUMAN	R	373	ENSP00000394239:W373R;ENSP00000423362:W373R;ENSP00000267068:W373R	ENSP00000267068:W373R	W	-	1	0	N4BP2L2	32008048	0.998000	0.40836	0.792000	0.32020	0.416000	0.31233	4.030000	0.57260	2.185000	0.69588	0.528000	0.53228	TGG	N4BP2L2	-	NULL	ENSG00000244754		0.388	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000044421.1	67	0.00	0	A	NM_014887		33110048	33110048	-1	no_errors	ENST00000267068	ensembl	human	known	69_37n	missense	85	37.23	51	SNP	0.985	G
NAA15	80155	genome.wustl.edu	37	4	140265461	140265461	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:140265461T>A	ENST00000296543.5	+	6	982	c.659T>A	c.(658-660)aTt>aAt	p.I220N	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.I220N	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	220					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAAAGCAGATTTGTGATAAA	0.318																																						dbGAP											0													109.0	101.0	104.0					4																	140265461		1798	4076	5874	-	-	-	SO:0001583	missense	0			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.659T>A	4.37:g.140265461T>A	ENSP00000296543:p.Ile220Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I220N	ENST00000296543.5	37	c.659	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361752	0.82353	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.54071	0.59;0.59	4.8	4.8	0.61643	Tetratricopeptide-like helical (1);	0.056424	0.64402	D	0.000004	T	0.71753	0.3377	M	0.80847	2.515	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.72047	-0.4408	10	0.32370	T	0.25	-10.9424	14.8014	0.69919	0.0:0.0:0.0:1.0	.	220	Q9BXJ9	NAA15_HUMAN	N	220;94;220	ENSP00000296543:I220N;ENSP00000381920:I220N	ENSP00000296543:I220N	I	+	2	0	NAA15	140484911	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.456000	0.80751	2.145000	0.66743	0.397000	0.26171	ATT	NAA15	-	pirsf_NatA_aux_su	ENSG00000164134		0.318	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	83	0.00	0	T	NM_057175		140265461	140265461	+1	no_errors	ENST00000296543	ensembl	human	known	69_37n	missense	77	35.29	42	SNP	1.000	A
NAALAD2	10003	genome.wustl.edu	37	11	89891367	89891367	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:89891367T>C	ENST00000534061.1	+	7	1081	c.851T>C	c.(850-852)gTa>gCa	p.V284A	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.V284A|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	284	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CGAATACCTGTACATCCCATT	0.308																																						dbGAP											0													113.0	118.0	116.0					11																	89891367		2201	4299	6500	-	-	-	SO:0001583	missense	0			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.851T>C	11.37:g.89891367T>C	ENSP00000432481:p.Val284Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.V284A	ENST00000534061.1	37	c.851	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234917	0.79800	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.44881	0.91;0.91	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000004	T	0.47002	0.1422	L	0.52206	1.635	0.80722	D	1	D;P	0.56968	0.978;0.939	P;P	0.49226	0.603;0.603	T	0.39820	-0.9595	9	.	.	.	-17.9711	15.7891	0.78338	0.0:0.0:0.0:1.0	.	284;284	Q9Y3Q0;Q8IUX3	NALD2_HUMAN;.	A	284	ENSP00000432481:V284A;ENSP00000320083:V284A	.	V	+	2	0	NAALAD2	89531015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.399000	0.79935	2.143000	0.66587	0.473000	0.43528	GTA	NAALAD2	-	NULL	ENSG00000077616		0.308	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	56	0.00	0	T	NM_005467		89891367	89891367	+1	no_errors	ENST00000534061	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	1.000	C
NAALADL2	254827	genome.wustl.edu	37	3	174951810	174951810	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:174951810T>C	ENST00000454872.1	+	3	763	c.635T>C	c.(634-636)gTa>gCa	p.V212A	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTAGAAGATGTACAGTTTGTA	0.408																																						dbGAP											0													97.0	92.0	94.0					3																	174951810		1925	4130	6055	-	-	-	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.635T>C	3.37:g.174951810T>C	ENSP00000404705:p.Val212Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.V212A	ENST00000454872.1	37	c.635	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	T	8.236	0.805709	0.16467	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.42900	0.96	5.72	4.57	0.56435	.	0.607911	0.14619	N	0.308525	T	0.43456	0.1248	L	0.43923	1.385	0.22213	N	0.999285	P;P	0.35959	0.53;0.518	P;B	0.46144	0.505;0.138	T	0.30179	-0.9987	10	0.18276	T	0.48	-4.0874	10.9498	0.47323	0.0:0.0742:0.0:0.9258	.	195;212	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	A	212;19	ENSP00000404705:V212A	ENSP00000314951:V19A	V	+	2	0	NAALADL2	176434504	0.996000	0.38824	0.133000	0.22050	0.660000	0.38997	2.448000	0.44926	1.023000	0.39654	0.529000	0.55759	GTA	NAALADL2	-	NULL	ENSG00000177694		0.408	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	77	0.00	0	T	NM_207015		174951810	174951810	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	131	15.48	24	SNP	0.587	C
NAT9	26151	genome.wustl.edu	37	17	72767957	72767957	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:72767957A>G	ENST00000357814.3	-	7	603	c.530T>C	c.(529-531)cTg>cCg	p.L177P	NAT9_ENST00000580632.1_Missense_Mutation_p.L177P|NAT9_ENST00000582870.1_Missense_Mutation_p.L181P|NAT9_ENST00000581136.1_Missense_Mutation_p.L172P|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000582524.1_Silent_p.T137T|NAT9_ENST00000578822.1_Missense_Mutation_p.L182P|NAT9_ENST00000580301.1_Missense_Mutation_p.L176P|NAT9_ENST00000583757.1_Silent_p.T136T|NAT9_ENST00000580216.1_5'Flank	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	177	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						ACTCACTGTCAGTCTGAGGGT	0.557																																						dbGAP											0													75.0	71.0	72.0					17																	72767957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.530T>C	17.37:g.72767957A>G	ENSP00000350467:p.Leu177Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.L177P	ENST00000357814.3	37	c.530	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	A	3.113	-0.182320	0.06340	.	.	ENSG00000109065	ENST00000357814	T	0.52526	0.66	4.99	4.99	0.66335	.	0.189054	0.35677	N	0.003057	T	0.67739	0.2925	M	0.86178	2.8	0.39385	D	0.966319	D;D	0.60160	0.987;0.973	D;P	0.65987	0.94;0.732	T	0.72197	-0.4363	10	0.44086	T	0.13	-17.4479	11.0459	0.47859	0.8445:0.1554:0.0:0.0	.	176;177	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	P	177	ENSP00000350467:L177P	ENSP00000350467:L177P	L	-	2	0	NAT9	70279552	0.999000	0.42202	0.797000	0.32132	0.042000	0.13812	4.794000	0.62482	2.009000	0.58944	0.459000	0.35465	CTG	NAT9	-	NULL	ENSG00000109065		0.557	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	54	0.00	0	A	NM_015654		72767957	72767957	-1	no_errors	ENST00000357814	ensembl	human	known	69_37n	missense	59	33.71	30	SNP	0.401	G
NAV2	89797	genome.wustl.edu	37	11	20057565	20057565	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:20057565T>C	ENST00000396087.3	+	13	2997	c.2898T>C	c.(2896-2898)acT>acC	p.T966T	NAV2_ENST00000533917.1_Silent_p.T29T|NAV2_ENST00000360655.4_Silent_p.T879T|NAV2_ENST00000349880.4_Silent_p.T943T|NAV2_ENST00000540292.1_Silent_p.T897T|NAV2_ENST00000311043.8_Silent_p.T29T|NAV2_ENST00000527559.2_Silent_p.T895T|NAV2_ENST00000396085.1_Silent_p.T943T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	966					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCTCAGCACTGATGACATCA	0.552																																						dbGAP											0													300.0	187.0	226.0					11																	20057565		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2898T>C	11.37:g.20057565T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.T966	ENST00000396087.3	37	c.2898	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.552	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	144	0.00	0	T	NM_145117		20057565	20057565	+1	no_errors	ENST00000396087	ensembl	human	known	69_37n	silent	151	30.09	65	SNP	0.810	C
NCOA1	8648	genome.wustl.edu	37	2	24980898	24980898	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:24980898A>G	ENST00000406961.1	+	21	4590	c.3938A>G	c.(3937-3939)aAc>aGc	p.N1313S	NCOA1_ENST00000538539.1_Missense_Mutation_p.N1313S|NCOA1_ENST00000405141.1_Missense_Mutation_p.N1313S|NCOA1_ENST00000348332.3_Missense_Mutation_p.N1313S|NCOA1_ENST00000288599.5_Missense_Mutation_p.N1313S|NCOA1_ENST00000407230.1_Missense_Mutation_p.N1162S|NCOA1_ENST00000395856.3_Missense_Mutation_p.N1313S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1313					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGTATACAACAACATGAGC	0.468			T	PAX3	alveolar rhadomyosarcoma																																	dbGAP		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													146.0	113.0	124.0					2																	24980898		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3938A>G	2.37:g.24980898A>G	ENSP00000385216:p.Asn1313Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.N1313S	ENST00000406961.1	37	c.3938	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463384	0.63513	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02301	4.44;4.42;4.35;4.42;4.44;4.42;4.44	4.89	4.89	0.63831	.	0.178829	0.64402	D	0.000014	T	0.04724	0.0128	N	0.12746	0.255	0.80722	D	1	D;D;D;D;D	0.67145	0.993;0.996;0.976;0.996;0.993	D;D;P;D;D	0.70935	0.935;0.971;0.86;0.971;0.935	T	0.63739	-0.6569	10	0.37606	T	0.19	-15.2436	14.3382	0.66606	1.0:0.0:0.0:0.0	.	1313;1313;1313;1313;1162	A8K1V4;Q15788-3;Q15788;Q15788-2;B5MCN7	.;.;NCOA1_HUMAN;.;.	S	1313;1313;1162;1313;1313;1313;1313	ENSP00000385216:N1313S;ENSP00000385097:N1313S;ENSP00000385195:N1162S;ENSP00000444039:N1313S;ENSP00000320940:N1313S;ENSP00000288599:N1313S;ENSP00000379197:N1313S	ENSP00000288599:N1313S	N	+	2	0	NCOA1	24834402	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.273000	0.78527	2.044000	0.60594	0.477000	0.44152	AAC	NCOA1	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.468	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	107	0.00	0	A	NM_147223		24980898	24980898	+1	no_errors	ENST00000348332	ensembl	human	known	69_37n	missense	70	48.53	66	SNP	1.000	G
NBEAL1	65065	genome.wustl.edu	37	2	204022515	204022515	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:204022515T>A	ENST00000449802.1	+	35	5927	c.5594T>A	c.(5593-5595)cTt>cAt	p.L1865H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1865										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAATTAGACCTTCCTGAAGAG	0.338																																						dbGAP											0													140.0	131.0	134.0					2																	204022515		1809	4073	5882	-	-	-	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5594T>A	2.37:g.204022515T>A	ENSP00000399903:p.Leu1865His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1865H	ENST00000449802.1	37	c.5594	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238564	0.58886	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.58506	0.33	5.3	5.3	0.74995	.	0.372387	0.28772	N	0.014186	T	0.65719	0.2718	M	0.70275	2.135	0.58432	D	0.999994	D;D	0.59767	0.986;0.986	P;P	0.53722	0.733;0.733	T	0.63699	-0.6578	10	0.16896	T	0.51	.	14.2241	0.65848	0.0:0.0:0.0:1.0	.	1865;1854	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	H	1865	ENSP00000399903:L1865H	ENSP00000344985:L1865H	L	+	2	0	NBEAL1	203730760	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.458000	0.73509	1.995000	0.58328	0.533000	0.62120	CTT	NBEAL1	-	NULL	ENSG00000144426		0.338	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	75	0.00	0	T			204022515	204022515	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	missense	119	25.62	41	SNP	1.000	A
NDUFB10	4716	genome.wustl.edu	37	16	2011613	2011613	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:2011613G>A	ENST00000268668.6	+	3	502	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000569148.1_Missense_Mutation_p.V118M|NDUFB10_ENST00000543683.2_Missense_Mutation_p.V129M|SNORA64_ENST00000384674.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	129					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)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						GTTCACCCAGGTGGCCAAGGC	0.572																																						dbGAP											0													80.0	80.0	80.0					16																	2011613		2199	4300	6499	-	-	-	SO:0001583	missense	0			AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.385G>A	16.37:g.2011613G>A	ENSP00000268668:p.Val129Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96II6	Splice_Site	SNP	-	e3+1	ENST00000268668.6	37	c.384+1	CCDS10451.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028653	0.75390	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	5.39	5.39	0.77823	.	0.239450	0.42821	D	0.000642	T	0.80226	0.4584	M	0.78049	2.395	0.41099	D	0.985659	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.962	T	0.82486	-0.0433	9	0.66056	D	0.02	-25.1495	18.167	0.89731	0.0:0.0:1.0:0.0	.	129;129	Q96II6;O96000	.;NDUBA_HUMAN	M	129	.	ENSP00000268668:V129M	V	+	1	0	NDUFB10	1951614	1.000000	0.71417	0.955000	0.39395	0.907000	0.53573	7.673000	0.83973	2.530000	0.85305	0.655000	0.94253	GTG	NDUFB10	-	-	ENSG00000140990		0.572	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB10	HGNC	protein_coding	OTTHUMT00000250614.2	41	0.00	0	G	NM_004548		2011613	2011613	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000570172	ensembl	human	novel	69_37n	splice_site	32	38.46	20	SNP	0.924	A
NDUFV3	4731	genome.wustl.edu	37	21	44323880	44323880	+	Intron	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:44323880A>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.Q253R|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CCCAGATCTCAAGTAGATGAA	0.398																																						dbGAP											0													114.0	129.0	124.0					21																	44323880		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5094A>G	21.37:g.44323880A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	NULL	p.Q253R	ENST00000340344.4	37	c.758	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852071	0.51270	.	.	ENSG00000160194	ENST00000354250	T	0.43688	0.94	5.51	0.532	0.17114	.	0.586545	0.18916	N	0.127607	T	0.27731	0.0682	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.17837	-1.0356	10	0.27785	T	0.31	-0.3972	8.3536	0.32316	0.6971:0.0:0.3029:0.0	.	253	P56181-2	.	R	253	ENSP00000346196:Q253R	ENSP00000346196:Q253R	Q	+	2	0	NDUFV3	43196949	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.748000	0.26305	-0.133000	0.11537	-0.256000	0.11100	CAA	NDUFV3	-	NULL	ENSG00000160194		0.398	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	41	0.00	0	A			44323880	44323880	+1	no_errors	ENST00000354250	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	0.000	G
NEB	4703	genome.wustl.edu	37	2	152450704	152450704	+	Intron	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:152450704T>C	ENST00000172853.10	-	77	11749				NEB_ENST00000604864.1_Silent_p.K4778K|NEB_ENST00000427231.2_Silent_p.K4778K|NEB_ENST00000397345.3_Silent_p.K4778K|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Silent_p.K4778K			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)		TCTCATAAGCTTTCTTATATT	0.453																																						dbGAP											0													1.0	1.0	1.0					2																	152450704		252	433	685	-	-	-	SO:0001627	intron_variant	0			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.11601+15618A>G	2.37:g.152450704T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	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,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.K4778	ENST00000172853.10	37	c.14334		2																																																																																			NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.453	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		35	0.00	0	T	NM_004543		152450704	152450704	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	silent	44	26.23	16	SNP	0.966	C
NEB	4703	genome.wustl.edu	37	2	152541344	152541344	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:152541344delG	ENST00000172853.10	-	28	2930	c.2783delC	c.(2782-2784)cctfs	p.P928fs	NEB_ENST00000604864.1_Frame_Shift_Del_p.P928fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.P928fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.P928fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.P928fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.P928fs			P20929	NEBU_HUMAN	nebulin	928					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)		GATGCTATCAGGGGGGTAGCT	0.463																																						dbGAP											0													90.0	87.0	88.0					2																	152541344		1922	4145	6067	-	-	-	SO:0001589	frameshift_variant	0			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.2783delC	2.37:g.152541344delG	ENSP00000172853:p.Pro928fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	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,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.P928fs	ENST00000172853.10	37	c.2783		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.463	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		99	0.00	0	G	NM_004543		152541344	152541344	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	frame_shift_del	113	16.06	22	DEL	0.564	-
NES	10763	genome.wustl.edu	37	1	156639821	156639821	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:156639821C>T	ENST00000368223.3	-	4	4291	c.4159G>A	c.(4159-4161)Gca>Aca	p.A1387T		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1387	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGGTTCTGCCACCTCCCCA	0.597																																						dbGAP											0													39.0	46.0	43.0					1																	156639821		2202	4300	6502	-	-	-	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4159G>A	1.37:g.156639821C>T	ENSP00000357206:p.Ala1387Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.A1387T	ENST00000368223.3	37	c.4159	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302447	0.40694	.	.	ENSG00000132688	ENST00000368223	D	0.86230	-2.09	4.46	-0.0351	0.13894	.	0.905175	0.08987	N	0.864968	T	0.68897	0.3051	L	0.55481	1.735	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.61613	-0.7027	10	0.87932	D	0	.	4.063	0.09847	0.2674:0.4582:0.0:0.2744	.	1387	P48681	NEST_HUMAN	T	1387	ENSP00000357206:A1387T	ENSP00000357206:A1387T	A	-	1	0	NES	154906445	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-0.321000	0.08018	0.073000	0.16731	0.557000	0.71058	GCA	NES	-	NULL	ENSG00000132688		0.597	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	23	0.00	0	C	NM_006617		156639821	156639821	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.000	T
NETO2	81831	genome.wustl.edu	37	16	47117199	47117199	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:47117199A>G	ENST00000562435.1	-	9	1895	c.1511T>C	c.(1510-1512)aTt>aCt	p.I504T	NETO2_ENST00000303155.5_Missense_Mutation_p.I497T	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	504					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCACAGGGAATCTCCTCCAT	0.428										HNSCC(25;0.065)																												dbGAP											0													136.0	130.0	132.0					16																	47117199		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1511T>C	16.37:g.47117199A>G	ENSP00000455169:p.Ile504Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.I504T	ENST00000562435.1	37	c.1511	CCDS10727.1	16	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299926	0.60195	.	.	ENSG00000171208	ENST00000303155	.	.	.	6.02	6.02	0.97574	.	0.048821	0.85682	D	0.000000	T	0.52158	0.1717	L	0.40543	1.245	0.58432	D	0.999998	P;B;P	0.36535	0.554;0.281;0.557	B;B;B	0.35971	0.101;0.075;0.215	T	0.56986	-0.7888	9	0.87932	D	0	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	361;504;180	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	T	504	.	ENSP00000306726:I504T	I	-	2	0	NETO2	45674700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.990000	0.76225	2.311000	0.77944	0.533000	0.62120	ATT	NETO2	-	NULL	ENSG00000171208		0.428	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NETO2	HGNC	protein_coding	OTTHUMT00000256766.2	118	0.00	0	A	NM_018092		47117199	47117199	-1	no_errors	ENST00000562435	ensembl	human	known	69_37n	missense	160	20.79	42	SNP	1.000	G
NF1	4763	genome.wustl.edu	37	17	29563041	29563041	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:29563041T>C	ENST00000358273.4	+	29	4357		c.e29+2		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						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)		TCCTACCAGGTTTGTCATCTT	0.383			"""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)																												dbGAP	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(2)|central_nervous_system(2)|lung(1)	GRCh37	CS072253	NF1	S							107.0	103.0	104.0					17																	29563041		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	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.3974+2T>C	17.37:g.29563041T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	-	e29+2	ENST00000358273.4	37	c.3974+2	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184753	0.78677	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26587167	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.774000	0.62339	2.313000	0.78055	0.455000	0.32223	.	NF1	-	-	ENSG00000196712		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	74	0.00	0	T	NM_000267	Intron	29563041	29563041	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	splice_site	53	39.08	34	SNP	1.000	C
NFAT5	10725	genome.wustl.edu	37	16	69693765	69693765	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:69693765T>C	ENST00000354436.2	+	6	1596	c.1278T>C	c.(1276-1278)acT>acC	p.T426T	NFAT5_ENST00000566899.1_Silent_p.T350T|NFAT5_ENST00000432919.1_Silent_p.T444T|NFAT5_ENST00000393742.2_Silent_p.T350T|NFAT5_ENST00000349945.1_Silent_p.T350T|NFAT5_ENST00000567239.1_Silent_p.T444T	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	426	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGGCTCCACTTTGACACTGC	0.383																																						dbGAP											0													149.0	147.0	148.0					16																	69693765		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1278T>C	16.37:g.69693765T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.T444	ENST00000354436.2	37	c.1332	CCDS10881.1	16																																																																																			NFAT5	-	superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT	ENSG00000102908		0.383	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	83	0.00	0	T	NM_138714		69693765	69693765	+1	no_errors	ENST00000432919	ensembl	human	known	69_37n	silent	86	29.51	36	SNP	0.971	C
NFE2L1	4779	genome.wustl.edu	37	17	46133761	46133761	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:46133761T>A	ENST00000362042.3	+	3	1140	c.524T>A	c.(523-525)aTt>aAt	p.I175N	NFE2L1_ENST00000357480.5_Missense_Mutation_p.I175N|NFE2L1_ENST00000585291.1_Missense_Mutation_p.I175N|NFE2L1_ENST00000361665.3_Intron|NFE2L1_ENST00000582155.1_Missense_Mutation_p.I17N|NFE2L1_ENST00000536222.1_Missense_Mutation_p.I49N|NFE2L1_ENST00000583378.1_Intron	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	175	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATAGATCTGATTGACATCCTT	0.517																																						dbGAP											0													334.0	334.0	334.0					17																	46133761		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.524T>A	17.37:g.46133761T>A	ENSP00000354855:p.Ile175Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.I175N	ENST00000362042.3	37	c.524	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511486	0.85389	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.53857	0.89;0.6	5.11	5.11	0.69529	.	0.290613	0.38548	N	0.001652	T	0.69178	0.3082	M	0.62723	1.935	0.80722	D	1	D;D;P;P	0.89917	1.0;0.999;0.928;0.846	D;D;P;P	0.91635	0.999;0.996;0.595;0.499	T	0.72564	-0.4255	10	0.72032	D	0.01	-39.7492	13.8753	0.63648	0.0:0.0:0.0:1.0	.	49;17;175;175	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	N	194;175;175;49	ENSP00000350072:I175N;ENSP00000445811:I49N	ENSP00000350072:I175N	I	+	2	0	NFE2L1	43488760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.959000	0.87885	1.940000	0.56252	0.379000	0.24179	ATT	NFE2L1	-	NULL	ENSG00000082641		0.517	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	122	0.00	0	T	NM_003204		46133761	46133761	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	missense	157	25.94	55	SNP	1.000	A
NGEF	25791	genome.wustl.edu	37	2	233791755	233791755	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:233791755T>C	ENST00000264051.3	-	4	803	c.525A>G	c.(523-525)atA>atG	p.I175M	NGEF_ENST00000409079.1_Splice_Site_p.I83M|NGEF_ENST00000373552.4_Splice_Site_p.I83M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	175	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				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)		GACACCCACCTATTTGTTCAA	0.602																																						dbGAP											0													49.0	51.0	50.0					2																	233791755		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			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.526+1A>G	2.37:g.233791755T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	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.I175M	ENST00000264051.3	37	c.525	CCDS2500.1	2	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581715	0.65992	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079	T;T	0.73047	-0.54;-0.71	4.84	3.62	0.41486	.	0.112837	0.53938	D	0.000043	T	0.73001	0.3531	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.996;0.995;0.999	P;D;D	0.75484	0.809;0.986;0.942	T	0.73107	-0.4087	10	0.46703	T	0.11	-19.8032	10.627	0.45512	0.0:0.0:0.3057:0.6943	.	83;83;175	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	M	175;83;65;83	ENSP00000264051:I175M;ENSP00000362653:I83M	ENSP00000264051:I175M	I	-	3	3	NGEF	233499999	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.478000	0.35442	1.818000	0.53035	0.533000	0.62120	ATA	NGEF	-	NULL	ENSG00000066248		0.602	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	43	0.00	0	T	XM_044799	Missense_Mutation	233791755	233791755	-1	no_errors	ENST00000264051	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	C
NHS	4810	genome.wustl.edu	37	X	17750097	17750097	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:17750097A>G	ENST00000380060.3	+	8	4744	c.4406A>G	c.(4405-4407)aAt>aGt	p.N1469S	NHS_ENST00000398097.3_Missense_Mutation_p.N1313S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1490					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCAGCAGTAATGTGACAACC	0.498																																						dbGAP											0													153.0	138.0	143.0					X																	17750097		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4406A>G	X.37:g.17750097A>G	ENSP00000369400:p.Asn1469Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.N1469S	ENST00000380060.3	37	c.4406	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.471687	0.01044	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.43688	0.95;0.94	5.79	-11.6	0.00059	.	1.402880	0.03949	N	0.288215	T	0.15349	0.0370	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.08106	-1.0738	10	0.08599	T	0.76	-0.0521	9.6183	0.39706	0.1515:0.2748:0.5052:0.0686	.	1490;1311;1313;1469	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	1469;1313;1311	ENSP00000369400:N1469S;ENSP00000381170:N1313S	ENSP00000369397:N1311S	N	+	2	0	NHS	17660018	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-2.209000	0.01228	-3.611000	0.00132	-1.310000	0.01310	AAT	NHS	-	NULL	ENSG00000188158		0.498	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	67	0.00	0	A	NM_198270		17750097	17750097	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	missense	95	26.36	34	SNP	0.000	G
NGFRAP1	27018	genome.wustl.edu	37	X	102632568	102632568	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:102632568C>T	ENST00000372645.3	+	3	476	c.149C>T	c.(148-150)gCc>gTc	p.A50V	NGFRAP1_ENST00000372635.1_Missense_Mutation_p.A50V|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.A40V|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.A50V|NGFRAP1_ENST00000361298.4_Missense_Mutation_p.A40V			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	50					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TTTCGATGGGCCATACCCAAT	0.512																																						dbGAP											0													185.0	172.0	176.0					X																	102632568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.149C>T	X.37:g.102632568C>T	ENSP00000361728:p.Ala50Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like,pirsf_BEX	p.A50V	ENST00000372645.3	37	c.149	CCDS14508.1	X	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147084	0.57151	.	.	ENSG00000166681	ENST00000361298;ENST00000372645;ENST00000372635;ENST00000372634;ENST00000299872	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	3.82	2.96	0.34315	.	0.529195	0.15954	N	0.236611	T	0.08133	0.0203	L	0.32530	0.975	0.27270	N	0.958392	B	0.02656	0.0	B	0.04013	0.001	T	0.20371	-1.0277	10	0.44086	T	0.13	-8.4588	6.4476	0.21885	0.0:0.864:0.0:0.136	.	50	Q00994	BEX3_HUMAN	V	40;50;50;40;50	ENSP00000354843:A40V;ENSP00000361728:A50V;ENSP00000361718:A50V;ENSP00000361717:A40V;ENSP00000299872:A50V	ENSP00000299872:A50V	A	+	2	0	NGFRAP1	102519224	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.448000	0.35112	0.974000	0.38366	0.600000	0.82982	GCC	NGFRAP1	-	pfam_TF_A-like/BEX-like,pirsf_BEX	ENSG00000166681		0.512	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NGFRAP1	HGNC	protein_coding	OTTHUMT00000057709.1	85	0.00	0	C	NM_014380		102632568	102632568	+1	no_errors	ENST00000299872	ensembl	human	known	69_37n	missense	94	22.22	28	SNP	0.998	T
NID2	22795	genome.wustl.edu	37	14	52507555	52507555	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:52507555G>T	ENST00000216286.5	-	8	1839	c.1840C>A	c.(1840-1842)Cat>Aat	p.H614N	NID2_ENST00000541773.1_Missense_Mutation_p.H561N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	614	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCATGTCATGGGTAAAGGCA	0.463																																						dbGAP											0													132.0	116.0	121.0					14																	52507555		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1840C>A	14.37:g.52507555G>T	ENSP00000216286:p.His614Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.H614N	ENST00000216286.5	37	c.1840	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614556	0.46631	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.29917	1.55;1.55	5.63	4.71	0.59529	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.240900	0.49916	D	0.000133	T	0.40570	0.1122	M	0.80847	2.515	0.40994	D	0.984875	B;P;P;B	0.47762	0.002;0.9;0.498;0.009	B;B;B;B	0.42522	0.021;0.39;0.175;0.012	T	0.52726	-0.8537	10	0.59425	D	0.04	.	15.6269	0.76867	0.0:0.0:0.8621:0.1379	.	208;561;616;614	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	N	614;208;561;616	ENSP00000216286:H614N;ENSP00000443730:H561N	ENSP00000216286:H614N	H	-	1	0	NID2	51577305	1.000000	0.71417	0.145000	0.22337	0.114000	0.19823	6.913000	0.75759	2.639000	0.89480	0.650000	0.86243	CAT	NID2	-	pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000087303		0.463	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	99	0.00	0	G			52507555	52507555	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	68	41.03	48	SNP	0.987	T
NLGN2	57555	genome.wustl.edu	37	17	7319375	7319375	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:7319375T>A	ENST00000302926.2	+	6	1656	c.1583T>A	c.(1582-1584)gTc>gAc	p.V528D	NLGN2_ENST00000575301.1_Missense_Mutation_p.V528D	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	528					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AAGAATGACGTCATGCTCAGT	0.637																																						dbGAP											0													67.0	57.0	60.0					17																	7319375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1583T>A	17.37:g.7319375T>A	ENSP00000305288:p.Val528Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2I1	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.V528D	ENST00000302926.2	37	c.1583	CCDS11103.1	17	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234305	0.79688	.	.	ENSG00000169992	ENST00000302926	T	0.66995	-0.24	5.44	5.44	0.79542	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	L	0.53249	1.67	0.80722	D	1	P	0.37330	0.59	B	0.28638	0.092	T	0.63808	-0.6553	10	0.54805	T	0.06	.	13.502	0.61462	0.0:0.0:0.0:1.0	.	528	Q8NFZ4	NLGN2_HUMAN	D	528	ENSP00000305288:V528D	ENSP00000305288:V528D	V	+	2	0	NLGN2	7260099	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.859000	0.86982	2.288000	0.76882	0.533000	0.62120	GTC	NLGN2	-	pfam_CarbesteraseB	ENSG00000169992		0.637	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	HGNC	protein_coding	OTTHUMT00000226941.2	19	0.00	0	T	NM_020795		7319375	7319375	+1	no_errors	ENST00000302926	ensembl	human	known	69_37n	missense	10	61.54	16	SNP	1.000	A
NLRC5	84166	genome.wustl.edu	37	16	57054809	57054809	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:57054809A>G	ENST00000262510.6	+	3	410	c.185A>G	c.(184-186)cAt>cGt	p.H62R	NLRC5_ENST00000539144.1_Missense_Mutation_p.H62R|NLRC5_ENST00000308149.7_Missense_Mutation_p.H62R|NLRC5_ENST00000436936.1_Missense_Mutation_p.H62R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	62					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)				AACAAGCTGCATGTCCAGGGT	0.542																																						dbGAP											0													107.0	89.0	95.0					16																	57054809		2198	4300	6498	-	-	-	SO:0001583	missense	0			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.185A>G	16.37:g.57054809A>G	ENSP00000262510:p.His62Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_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.H62R	ENST00000262510.6	37	c.185	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	A	6.364	0.435236	0.12045	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000544641;ENST00000539144	T;T;T;T	0.71579	-0.38;-0.41;-0.58;-0.41	4.76	-3.52	0.04682	.	.	.	.	.	T	0.45397	0.1340	N	0.25144	0.715	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.22173	-1.0224	9	0.21540	T	0.41	.	1.0576	0.01593	0.2983:0.1266:0.3271:0.248	.	62	Q86WI3	NLRC5_HUMAN	R	62	ENSP00000262510:H62R;ENSP00000308886:H62R;ENSP00000389739:H62R;ENSP00000441727:H62R	ENSP00000262510:H62R	H	+	2	0	NLRC5	55612310	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.026000	0.12392	-0.449000	0.07117	0.374000	0.22700	CAT	NLRC5	-	NULL	ENSG00000140853		0.542	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	87	0.00	0	A	NM_032206		57054809	57054809	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	missense	92	17.86	20	SNP	0.000	G
NLRP13	126204	genome.wustl.edu	37	19	56443489	56443489	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:56443489G>A	ENST00000342929.3	-	1	188	c.189C>T	c.(187-189)gcC>gcT	p.A63A	NLRP13_ENST00000588751.1_Silent_p.A63A	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	63	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCAAAGGGTCGGCAGCTCTCA	0.537																																						dbGAP											0													63.0	65.0	64.0					19																	56443489		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.189C>T	19.37:g.56443489G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A63	ENST00000342929.3	37	c.189	CCDS33119.1	19																																																																																			NLRP13	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000173572		0.537	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	31	0.00	0	G	NM_176810		56443489	56443489	-1	no_errors	ENST00000342929	ensembl	human	known	69_37n	silent	45	21.05	12	SNP	0.000	A
NLRP5	126206	genome.wustl.edu	37	19	56520208	56520208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:56520208delA	ENST00000390649.3	+	3	497	c.497delA	c.(496-498)gaafs	p.E166fs		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	166					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCAAGCAAGGAAAAAGTGCCA	0.473																																						dbGAP											0													70.0	70.0	70.0					19																	56520208		1936	4151	6087	-	-	-	SO:0001589	frameshift_variant	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.497delA	19.37:g.56520208delA	ENSP00000375063:p.Glu166fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTY4|Q86W29	Frame_Shift_Del	DEL	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V168fs	ENST00000390649.3	37	c.497	CCDS12938.1	19																																																																																			NLRP5	-	NULL	ENSG00000171487		0.473	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	90	0.00	0	A	NM_153447		56520208	56520208	+1	no_errors	ENST00000390649	ensembl	human	known	69_37n	frame_shift_del	106	20.15	27	DEL	0.021	-
NPHP1	4867	genome.wustl.edu	37	2	110926098	110926098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:110926098delT	ENST00000393272.3	-	6	652	c.555delA	c.(553-555)aaafs	p.K185fs	NPHP1_ENST00000417665.1_Frame_Shift_Del_p.K185fs|NPHP1_ENST00000445609.2_Frame_Shift_Del_p.K185fs|NPHP1_ENST00000355301.4_Frame_Shift_Del_p.K123fs|NPHP1_ENST00000316534.4_Frame_Shift_Del_p.K185fs	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	185	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						AACCATCAGGTTTTTTTTCAA	0.338																																						dbGAP											0													135.0	139.0	137.0					2																	110926098		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			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.555delA	2.37:g.110926098delT	ENSP00000376953:p.Lys185fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O14837	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.K185fs	ENST00000393272.3	37	c.555	CCDS46385.1	2																																																																																			NPHP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000144061		0.338	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	132	0.00	0	T	NM_000272		110926098	110926098	-1	no_errors	ENST00000316534	ensembl	human	known	69_37n	frame_shift_del	150	17.13	31	DEL	0.398	-
NPLOC4	55666	genome.wustl.edu	37	17	79564290	79564290	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:79564290A>G	ENST00000331134.6	-	10	1189	c.974T>C	c.(973-975)gTc>gCc	p.V325A	NPLOC4_ENST00000374747.5_Missense_Mutation_p.V325A|NPLOC4_ENST00000539314.1_Missense_Mutation_p.V164A	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	325					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACTGTAGCGGACGGTACCCTT	0.468																																						dbGAP											0													132.0	131.0	131.0					17																	79564290		2042	4188	6230	-	-	-	SO:0001583	missense	0			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.974T>C	17.37:g.79564290A>G	ENSP00000331487:p.Val325Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4	p.V325A	ENST00000331134.6	37	c.974	CCDS45812.1	17	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679225	0.88542	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.54	5.54	0.83059	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.91635	0.951;0.999;0.999	T	0.80549	-0.1333	9	0.54805	T	0.06	-34.7412	16.0226	0.80509	1.0:0.0:0.0:0.0	.	164;325;325	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	A	325;324;164	.	ENSP00000331487:V325A	V	-	2	0	NPLOC4	77174728	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	8.724000	0.91462	2.239000	0.73571	0.524000	0.50904	GTC	NPLOC4	-	pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4	ENSG00000182446		0.468	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	HGNC	protein_coding	OTTHUMT00000440140.1	97	0.00	0	A			79564290	79564290	-1	no_errors	ENST00000374747	ensembl	human	known	69_37n	missense	205	18.33	46	SNP	1.000	G
NR1H2	7376	genome.wustl.edu	37	19	50881064	50881064	+	Frame_Shift_Del	DEL	G	G	-	rs373906062		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:50881064delG	ENST00000253727.5	+	4	353	c.118delG	c.(118-120)gggfs	p.G41fs	NR1H2_ENST00000411902.2_Frame_Shift_Del_p.G41fs|NR1H2_ENST00000599105.1_Frame_Shift_Del_p.G41fs|NR1H2_ENST00000593926.1_Frame_Shift_Del_p.G41fs|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Frame_Shift_Del_p.G41fs	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	41					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCGTGGCCCGGGGGTCCGGA	0.657																																						dbGAP											0													33.0	37.0	36.0					19																	50881064		1839	4097	5936	-	-	-	SO:0001589	frameshift_variant	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.118delG	19.37:g.50881064delG	ENSP00000253727:p.Gly41fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Frame_Shift_Del	DEL	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.G41fs	ENST00000253727.5	37	c.118	CCDS42593.1	19																																																																																			NR1H2	-	NULL	ENSG00000131408		0.657	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	49	0.00	0	G			50881064	50881064	+1	no_errors	ENST00000253727	ensembl	human	known	69_37n	frame_shift_del	29	31.11	14	DEL	0.058	-
NR2F2	7026	genome.wustl.edu	37	15	96880700	96880700	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:96880700T>C	ENST00000394166.3	+	3	2483	c.1094T>C	c.(1093-1095)cTt>cCt	p.L365P	NR2F2_ENST00000421109.2_Missense_Mutation_p.L232P|NR2F2_ENST00000453270.2_Missense_Mutation_p.L212P|NR2F2_ENST00000394171.2_Missense_Mutation_p.L212P	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	365	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L365P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AAGCTTTTGCTTCGCCTCCCT	0.522																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											155.0	140.0	145.0					15																	96880700		2197	4298	6495	-	-	-	SO:0001583	missense	0			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1094T>C	15.37:g.96880700T>C	ENSP00000377721:p.Leu365Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.L365P	ENST00000394166.3	37	c.1094	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233096	0.58777	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.44	5.44	0.79542	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99790	1.1031	10	0.87932	D	0	.	15.7849	0.78294	0.0:0.0:0.0:1.0	.	365;232	P24468;Q3KQR7	COT2_HUMAN;.	P	232;365;212;212	ENSP00000401674:L232P;ENSP00000377721:L365P;ENSP00000377726:L212P;ENSP00000389853:L212P	ENSP00000377721:L365P	L	+	2	0	NR2F2	94681704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.179000	0.69175	0.528000	0.53228	CTT	NR2F2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000185551		0.522	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	HGNC	protein_coding	OTTHUMT00000313534.1	78	0.00	0	T			96880700	96880700	+1	no_errors	ENST00000394166	ensembl	human	known	69_37n	missense	157	11.30	20	SNP	1.000	C
NR4A2	4929	genome.wustl.edu	37	2	157185038	157185038	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:157185038A>G	ENST00000339562.4	-	4	1234	c.872T>C	c.(871-873)gTg>gCg	p.V291A	NR4A2_ENST00000426264.1_Missense_Mutation_p.V228A|NR4A2_ENST00000409572.1_Missense_Mutation_p.V291A|NR4A2_ENST00000429376.1_Missense_Mutation_p.V228A|NR4A2_ENST00000539077.1_Missense_Mutation_p.V302A|NR4A2_ENST00000409108.2_Missense_Mutation_p.V291A	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	291					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ATTTTTTTGCACTGTGCGCTG	0.423																																						dbGAP											0													72.0	70.0	71.0					2																	157185038		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.872T>C	2.37:g.157185038A>G	ENSP00000344479:p.Val291Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16311|Q53RZ2|Q6NXU0	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_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.V302A	ENST00000339562.4	37	c.905	CCDS2201.1	2	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708653	0.68615	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	6.17	6.17	0.99709	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99418	1.0932	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	291	P43354	NR4A2_HUMAN	A	291;228;291;302;291;228	ENSP00000344479:V291A;ENSP00000389986:V228A;ENSP00000386747:V291A;ENSP00000444925:V302A;ENSP00000386993:V291A;ENSP00000410952:V228A	ENSP00000344479:V291A	V	-	2	0	NR4A2	156893284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GTG	NR4A2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000153234		0.423	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2	59	0.00	0	A			157185038	157185038	-1	no_errors	ENST00000539077	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	1.000	G
NRK	203447	genome.wustl.edu	37	X	105150446	105150446	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:105150446delA	ENST00000243300.9	+	11	1188	c.885delA	c.(883-885)atafs	p.I295fs	NRK_ENST00000428173.2_Frame_Shift_Del_p.I295fs	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGTGTACGATAAAAAATTTCC	0.383										HNSCC(51;0.14)																												dbGAP											0													61.0	50.0	53.0					X																	105150446		1829	4079	5908	-	-	-	SO:0001589	frameshift_variant	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.885delA	X.37:g.105150446delA	ENSP00000434830:p.Ile295fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32ND6|Q5H9K2|Q6ZMP2	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.N297fs	ENST00000243300.9	37	c.885		X																																																																																			NRK	-	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	ENSG00000123572		0.383	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	60	0.00	0	A	NM_198465		105150446	105150446	+1	no_errors	ENST00000428173	ensembl	human	known	69_37n	frame_shift_del	88	23.08	27	DEL	0.998	-
NRXN1	9378	genome.wustl.edu	37	2	50733715	50733715	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:50733715A>G	ENST00000406316.2	-	13	3891	c.2415T>C	c.(2413-2415)aaT>aaC	p.N805N	NRXN1_ENST00000401669.2_Silent_p.N805N|NRXN1_ENST00000404971.1_Silent_p.N845N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.N797N|NRXN1_ENST00000406859.3_Silent_p.N805N|NRXN1_ENST00000402717.3_Silent_p.N797N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	805	Laminin G-like 4. {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)	p.N845K(1)|p.N846K(1)|p.N805K(1)		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)			ACTCGTTATCATTGAGGTTAT	0.453																																						dbGAP											3	Substitution - Missense(3)	lung(3)											126.0	122.0	123.0					2																	50733715		1926	4132	6058	-	-	-	SO:0001819	synonymous_variant	0			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.2415T>C	2.37:g.50733715A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.N797	ENST00000406316.2	37	c.2391	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.453	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	131	0.00	0	A			50733715	50733715	-1	no_errors	ENST00000402717	ensembl	human	known	69_37n	silent	152	21.65	42	SNP	1.000	G
NSD1	64324	genome.wustl.edu	37	5	176719060	176719060	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:176719060T>G	ENST00000439151.2	+	22	6409	c.6364T>G	c.(6364-6366)Ttt>Gtt	p.F2122V	NSD1_ENST00000361032.4_Missense_Mutation_p.F2019V|NSD1_ENST00000347982.4_Missense_Mutation_p.F1853V|NSD1_ENST00000354179.4_Missense_Mutation_p.F1853V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2122					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGATGAGTGTTTTAGTTGTGG	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			GRCh37	CD052495	NSD1	D							92.0	75.0	81.0					5																	176719060		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6364T>G	5.37:g.176719060T>G	ENSP00000395929:p.Phe2122Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.F2122V	ENST00000439151.2	37	c.6364	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	T	29.9	5.046275	0.93740	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63	5.44	5.44	0.79542	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000005	D	0.98232	0.9415	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.99616	1.0982	10	0.72032	D	0.01	.	15.5763	0.76392	0.0:0.0:0.0:1.0	.	1853;2122	Q96L73-2;Q96L73	.;NSD1_HUMAN	V	1853;2122;1853;2019	ENSP00000346111:F1853V;ENSP00000395929:F2122V;ENSP00000343209:F1853V;ENSP00000354310:F2019V	ENSP00000343209:F1853V	F	+	1	0	NSD1	176651666	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.037000	0.88933	2.080000	0.62538	0.529000	0.55759	TTT	NSD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000165671		0.507	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	61	0.00	0	T	NM_172349		176719060	176719060	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	77	30.63	34	SNP	1.000	G
NSD1	64324	genome.wustl.edu	37	5	176719136	176719136	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:176719136T>G	ENST00000439151.2	+	22	6485	c.6440T>G	c.(6439-6441)cTc>cGc	p.L2147R	NSD1_ENST00000361032.4_Missense_Mutation_p.L2044R|NSD1_ENST00000347982.4_Missense_Mutation_p.L1878R|NSD1_ENST00000354179.4_Missense_Mutation_p.L1878R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2147					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGACTGTCTCAATCTGACC	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													81.0	66.0	71.0					5																	176719136		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6440T>G	5.37:g.176719136T>G	ENSP00000395929:p.Leu2147Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L2147R	ENST00000439151.2	37	c.6440	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	T	29.0	4.966297	0.92855	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.44	5.44	0.79542	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.52532	D	0.000063	D	0.98018	0.9347	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99312	1.0904	10	0.87932	D	0	.	15.5763	0.76392	0.0:0.0:0.0:1.0	.	1878;2147	Q96L73-2;Q96L73	.;NSD1_HUMAN	R	1878;2147;1878;2044	ENSP00000346111:L1878R;ENSP00000395929:L2147R;ENSP00000343209:L1878R;ENSP00000354310:L2044R	ENSP00000343209:L1878R	L	+	2	0	NSD1	176651742	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.037000	0.88933	2.080000	0.62538	0.529000	0.55759	CTC	NSD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000165671		0.507	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	62	0.00	0	T	NM_172349		176719136	176719136	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	54	28.00	21	SNP	1.000	G
NUP133	55746	genome.wustl.edu	37	1	229631263	229631263	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:229631263T>C	ENST00000261396.3	-	8	1116	c.1025A>G	c.(1024-1026)tAt>tGt	p.Y342C	NUP133_ENST00000537506.1_Missense_Mutation_p.Y326C	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	342					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|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)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CAAGTCCAAATATCGAATGTT	0.303																																						dbGAP											0													158.0	148.0	151.0					1																	229631263		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1025A>G	1.37:g.229631263T>C	ENSP00000261396:p.Tyr342Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.Y342C	ENST00000261396.3	37	c.1025	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921513	0.73213	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.42900	0.96;0.96;0.96	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.63769	-0.6562	10	0.40728	T	0.16	-16.0932	15.1324	0.72536	0.0:0.0:0.0:1.0	.	342	Q8WUM0	NU133_HUMAN	C	342;342;342;326	ENSP00000261396:Y342C;ENSP00000355640:Y342C;ENSP00000443496:Y326C	ENSP00000261396:Y342C	Y	-	2	0	NUP133	227697886	1.000000	0.71417	0.819000	0.32651	0.930000	0.56654	6.610000	0.74178	2.163000	0.67991	0.533000	0.62120	TAT	NUP133	-	pfam_Nucleoporin_Nup133/Nup155_N	ENSG00000069248		0.303	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	212	0.00	0	T	NM_018230		229631263	229631263	-1	no_errors	ENST00000261396	ensembl	human	known	69_37n	missense	308	21.77	86	SNP	0.997	C
NUP214	8021	genome.wustl.edu	37	9	134073368	134073368	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:134073368C>T	ENST00000359428.5	+	29	4631	c.4487C>T	c.(4486-4488)gCc>gTc	p.A1496V	NUP214_ENST00000411637.2_Missense_Mutation_p.A1486V|NUP214_ENST00000451030.1_Missense_Mutation_p.A1497V|NUP214_ENST00000483497.2_Missense_Mutation_p.A322V			P35658	NU214_HUMAN	nucleoporin 214kDa	1496	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				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)		ACAGAAGAGGCCACTTCATCA	0.557			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													107.0	103.0	105.0					9																	134073368		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4487C>T	9.37:g.134073368C>T	ENSP00000352400:p.Ala1496Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.A1497V	ENST00000359428.5	37	c.4490	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176273	0.38413	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.56611	1.25;1.26;1.25;0.73;0.45	5.82	0.116	0.14647	.	0.925474	0.08945	N	0.870991	T	0.29256	0.0728	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.17268	0.011;0.021;0.006;0.003;0.003	B;B;B;B;B	0.16722	0.009;0.016;0.015;0.006;0.006	T	0.21245	-1.0251	10	0.46703	T	0.11	-1.4298	5.2881	0.15712	0.0:0.4446:0.2499:0.3055	.	322;925;1090;1486;1496	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	V	1496;1486;1497;1475;1090;925;322;273;273	ENSP00000352400:A1496V;ENSP00000396576:A1486V;ENSP00000405014:A1497V;ENSP00000436793:A322V;ENSP00000435364:A273V	ENSP00000352400:A1496V	A	+	2	0	NUP214	133063189	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.105000	0.10907	0.033000	0.15463	0.561000	0.74099	GCC	NUP214	-	NULL	ENSG00000126883		0.557	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	43	0.00	0	C	NM_005085		134073368	134073368	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	missense	47	35.62	26	SNP	0.001	T
OLA1	29789	genome.wustl.edu	37	2	174945897	174945897	+	Missense_Mutation	SNP	G	G	A	rs375033952		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:174945897G>A	ENST00000409546.1	-	9	1639	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	OLA1_ENST00000344357.5_Missense_Mutation_p.R159C|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000284719.3_Missense_Mutation_p.R317C					Obg-like ATPase 1									p.R317C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GTCCATGCACGCACTTCATCT	0.393																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											87.0	78.0	81.0					2																	174945897		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.1009C>T	2.37:g.174945897G>A	ENSP00000386350:p.Arg337Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.R317C	ENST00000409546.1	37	c.949		2	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691802	0.48097	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546	T;T;T	0.24723	1.84;1.84;1.84	5.96	5.96	0.96718	Domain of unknown function DUF933 (1);TGS-like (1);Beta-grasp fold, ferredoxin-type (1);	0.050869	0.85682	D	0.000000	T	0.70081	0.3183	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.98;0.996;0.98	T	0.81132	-0.1072	10	0.87932	D	0	-5.692	20.4008	0.98991	0.0:0.0:1.0:0.0	.	317;159;317	D7EHM2;Q9NTK5-2;Q9NTK5	.;.;OLA1_HUMAN	C	317;159;337	ENSP00000284719:R317C;ENSP00000340167:R159C;ENSP00000386350:R337C	ENSP00000284719:R317C	R	-	1	0	OLA1	174654143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.214000	0.65236	2.826000	0.97356	0.655000	0.94253	CGT	OLA1	-	pfam_DUF933,superfamily_TGS-like,pirsf_CHP00092,tigrfam_CHP00092	ENSG00000138430		0.393	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1	70	0.00	0	G	NM_013341		174945897	174945897	-1	no_errors	ENST00000284719	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	1.000	A
OLFM1	10439	genome.wustl.edu	37	9	138011606	138011606	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:138011606A>G	ENST00000371793.3	+	6	1291	c.1040A>G	c.(1039-1041)tAc>tGc	p.Y347C	OLFM1_ENST00000252854.4_Missense_Mutation_p.Y329C|OLFM1_ENST00000371796.3_Missense_Mutation_p.Y320C	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	347	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ATGTACCACTACGCCTGGGGT	0.572																																						dbGAP											0													83.0	72.0	76.0					9																	138011606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1040A>G	9.37:g.138011606A>G	ENSP00000360858:p.Tyr347Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like	p.Y347C	ENST00000371793.3	37	c.1040		9	.	.	.	.	.	.	.	.	.	.	A	20.9	4.058772	0.76074	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.92805	-3.11;-3.11;-3.11	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98221	1.0478	10	0.87932	D	0	.	14.8166	0.70039	1.0:0.0:0.0:0.0	.	347;329	Q99784;Q6IMJ8	NOE1_HUMAN;.	C	329;320;347	ENSP00000252854:Y329C;ENSP00000360861:Y320C;ENSP00000360858:Y347C	ENSP00000252854:Y329C	Y	+	2	0	OLFM1	137151427	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.060000	0.93907	1.909000	0.55274	0.459000	0.35465	TAC	OLFM1	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.572	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	48	0.00	0	A	NM_014279		138011606	138011606	+1	no_errors	ENST00000371793	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	1.000	G
OR2AG1	144125	genome.wustl.edu	37	11	6806662	6806662	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:6806662T>C	ENST00000307401.4	+	1	415	c.394T>C	c.(394-396)Tac>Cac	p.Y132H		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCTCTGACATACATGACCCT	0.527																																						dbGAP											0													109.0	98.0	101.0					11																	6806662		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.394T>C	11.37:g.6806662T>C	ENSP00000307447:p.Tyr132His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y132H	ENST00000307401.4	37	c.394	CCDS31414.1	11	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557193	0.45590	.	.	ENSG00000170803	ENST00000307401	T	0.33438	1.41	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000470	T	0.61527	0.2354	M	0.92691	3.335	0.41790	D	0.989862	D	0.76494	0.999	D	0.75484	0.986	T	0.71031	-0.4710	10	0.87932	D	0	.	11.0036	0.47620	0.0:0.0:0.0:1.0	.	132	Q9H205	O2AG1_HUMAN	H	132	ENSP00000307447:Y132H	ENSP00000307447:Y132H	Y	+	1	0	OR2AG1	6763238	1.000000	0.71417	0.999000	0.59377	0.120000	0.20174	7.530000	0.81962	1.763000	0.52060	0.482000	0.46254	TAC	OR2AG1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170803		0.527	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG1	HGNC	protein_coding	OTTHUMT00000385980.1	67	0.00	0	T	NM_001004489		6806662	6806662	+1	no_errors	ENST00000307401	ensembl	human	known	69_37n	missense	134	17.68	29	SNP	1.000	C
OR2B2	81697	genome.wustl.edu	37	6	27879599	27879599	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:27879599G>C	ENST00000303324.2	-	1	575	c.499C>G	c.(499-501)Cca>Gca	p.P167A		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCACACAGTGGCATCTTAAGT	0.463																																						dbGAP											0													86.0	81.0	82.0					6																	27879599		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.499C>G	6.37:g.27879599G>C	ENSP00000304419:p.Pro167Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P167A	ENST00000303324.2	37	c.499	CCDS4641.1	6	.	.	.	.	.	.	.	.	.	.	G	9.377	1.072073	0.20147	.	.	ENSG00000168131	ENST00000303324	T	0.00179	8.61	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39083	U	0.001461	T	0.00300	0.0009	M	0.85630	2.765	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24870	-1.0148	10	0.72032	D	0.01	.	9.0305	0.36256	0.1049:0.0:0.8951:0.0	.	167	Q9GZK3	OR2B2_HUMAN	A	167	ENSP00000304419:P167A	ENSP00000304419:P167A	P	-	1	0	OR2B2	27987578	0.000000	0.05858	0.986000	0.45419	0.025000	0.11179	-0.176000	0.09811	2.371000	0.80710	0.563000	0.77884	CCA	OR2B2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000168131		0.463	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B2	HGNC	protein_coding	OTTHUMT00000040163.1	41	0.00	0	G			27879599	27879599	-1	no_errors	ENST00000303324	ensembl	human	known	69_37n	missense	61	37.11	36	SNP	0.046	C
OR4A15	81328	genome.wustl.edu	37	11	55135492	55135492	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:55135492C>A	ENST00000314706.3	+	1	133	c.133C>A	c.(133-135)Ctc>Atc	p.L45I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTCTTAGGGCTCACACAGAA	0.418																																						dbGAP											0													68.0	64.0	65.0					11																	55135492		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.133C>A	11.37:g.55135492C>A	ENSP00000325065:p.Leu45Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L45I	ENST00000314706.3	37	c.133	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	c	11.51	1.659699	0.29515	.	.	ENSG00000181958	ENST00000314706	T	0.01406	4.93	3.48	3.48	0.39840	.	2.916530	0.01925	N	0.040781	T	0.04318	0.0119	L	0.56199	1.76	0.09310	N	1	P	0.50710	0.938	P	0.48770	0.589	T	0.43734	-0.9373	10	0.62326	D	0.03	.	10.3795	0.44104	0.0:1.0:0.0:0.0	.	45	Q8NGL6	O4A15_HUMAN	I	45	ENSP00000325065:L45I	ENSP00000325065:L45I	L	+	1	0	OR4A15	54892068	0.000000	0.05858	0.166000	0.22797	0.018000	0.09664	-0.211000	0.09332	1.785000	0.52413	0.492000	0.49549	CTC	OR4A15	-	NULL	ENSG00000181958		0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	58	0.00	0	C	NM_001005275		55135492	55135492	+1	no_errors	ENST00000314706	ensembl	human	known	69_37n	missense	60	41.18	42	SNP	0.026	A
OR4L1	122742	genome.wustl.edu	37	14	20528647	20528647	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:20528647A>G	ENST00000315683.1	+	1	444	c.444A>G	c.(442-444)tcA>tcG	p.S148S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	148						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(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CGATACTTTCATGGATAATTG	0.388																																						dbGAP											0													139.0	131.0	133.0					14																	20528647		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.444A>G	14.37:g.20528647A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S148	ENST00000315683.1	37	c.444	CCDS32029.1	14																																																																																			OR4L1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176246		0.388	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1	90	0.00	0	A			20528647	20528647	+1	no_errors	ENST00000315683	ensembl	human	known	69_37n	silent	74	38.84	47	SNP	0.986	G
OR5K3	403277	genome.wustl.edu	37	3	98109906	98109906	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:98109906C>G	ENST00000383695.1	+	1	397	c.397C>G	c.(397-399)Cac>Gac	p.H133D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H133N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTGCAGTACCACACCATGAT	0.468																																						dbGAP											1	Substitution - Missense(1)	lung(1)											168.0	155.0	159.0					3																	98109906		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.397C>G	3.37:g.98109906C>G	ENSP00000373194:p.His133Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H133D	ENST00000383695.1	37	c.397	CCDS33803.1	3	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946046	0.34377	.	.	ENSG00000206536	ENST00000383695	T	0.24151	1.87	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.146315	0.31747	N	0.007126	T	0.22244	0.0536	L	0.46741	1.465	0.25020	N	0.991343	B	0.30326	0.276	B	0.28916	0.096	T	0.12426	-1.0548	10	0.27082	T	0.32	-34.7503	11.557	0.50755	0.1787:0.8213:0.0:0.0	.	133	A6NET4	OR5K3_HUMAN	D	133	ENSP00000373194:H133D	ENSP00000373194:H133D	H	+	1	0	OR5K3	99592596	0.000000	0.05858	1.000000	0.80357	0.919000	0.55068	-1.196000	0.03041	2.527000	0.85204	0.603000	0.83216	CAC	OR5K3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000206536		0.468	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K3	HGNC	protein_coding	OTTHUMT00000359110.1	175	0.57	1	C			98109906	98109906	+1	no_errors	ENST00000383695	ensembl	human	known	69_37n	missense	172	28.03	67	SNP	0.950	G
ORAI1	84876	genome.wustl.edu	37	12	122079541	122079541	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:122079541T>C	ENST00000330079.7	+	2	1097	c.904T>C	c.(904-906)Tat>Cat	p.Y302H		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	300					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		CGGCAGCCACTATGCCTAGGC	0.652																																						dbGAP											0													44.0	48.0	47.0					12																	122079541		2036	4184	6220	-	-	-	SO:0001583	missense	0			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.904T>C	12.37:g.122079541T>C	ENSP00000328216:p.Tyr302His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	pfam_CRAC_channel,superfamily_FH2_actin-bd	p.Y302H	ENST00000330079.7	37	c.904	CCDS41851.1	12	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830136	0.71258	.	.	ENSG00000182500	ENST00000330079	T	0.35973	1.28	5.29	4.13	0.48395	.	0.896266	0.09808	N	0.753228	T	0.21590	0.0520	N	0.08118	0	0.39486	D	0.967964	P	0.39624	0.681	B	0.34536	0.185	T	0.06041	-1.0849	10	0.87932	D	0	-3.7521	12.6612	0.56815	0.0:0.0:0.1381:0.8619	.	300	Q96D31	CRCM1_HUMAN	H	302	ENSP00000328216:Y302H	ENSP00000328216:Y302H	Y	+	1	0	ORAI1	120563924	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.936000	0.48971	0.938000	0.37419	0.383000	0.25322	TAT	ORAI1	-	NULL	ENSG00000182500		0.652	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI1	HGNC	protein_coding	OTTHUMT00000402151.1	16	0.00	0	T	NM_032790		122079541	122079541	+1	no_errors	ENST00000330079	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	1.000	C
OSBPL11	114885	genome.wustl.edu	37	3	125301808	125301808	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:125301808T>C	ENST00000296220.5	-	2	468	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	60	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GCCATACACATTTTCCATGTG	0.363																																						dbGAP											0													71.0	67.0	69.0					3																	125301808		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.179A>G	3.37:g.125301808T>C	ENSP00000296220:p.Asn60Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9I7	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N60S	ENST00000296220.5	37	c.179	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559624	0.27827	.	.	ENSG00000144909	ENST00000296220	T	0.16597	2.33	5.19	2.82	0.32997	Pleckstrin homology domain (2);	0.055251	0.64402	N	0.000001	T	0.10252	0.0251	L	0.34521	1.04	0.45427	D	0.998406	B	0.02656	0.0	B	0.04013	0.001	T	0.15780	-1.0425	10	0.06236	T	0.91	-21.3826	9.0496	0.36367	0.0:0.152:0.0:0.848	.	60	Q9BXB4	OSB11_HUMAN	S	60	ENSP00000296220:N60S	ENSP00000296220:N60S	N	-	2	0	OSBPL11	126784498	1.000000	0.71417	0.998000	0.56505	0.577000	0.36160	3.785000	0.55424	0.438000	0.26450	0.533000	0.62120	AAT	OSBPL11	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000144909		0.363	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	43	0.00	0	T	NM_022776		125301808	125301808	-1	no_errors	ENST00000296220	ensembl	human	known	69_37n	missense	70	20.45	18	SNP	1.000	C
OTOF	9381	genome.wustl.edu	37	2	26696942	26696942	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:26696942T>C	ENST00000272371.2	-	27	3451	c.3325A>G	c.(3325-3327)Aat>Gat	p.N1109D	OTOF_ENST00000339598.3_Missense_Mutation_p.N362D|OTOF_ENST00000338581.6_Missense_Mutation_p.N362D|OTOF_ENST00000403946.3_Missense_Mutation_p.N1109D|OTOF_ENST00000402415.3_Missense_Mutation_p.N419D	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1109					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)					ACCGGGCCATTGATGGGGGGC	0.647																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											0													57.0	59.0	58.0					2																	26696942		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3325A>G	2.37:g.26696942T>C	ENSP00000272371:p.Asn1109Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_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.N1109D	ENST00000272371.2	37	c.3325	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	t	0.412	-0.912918	0.02415	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79141	-1.01;-1.01;-0.98;-1.24;-1.24	5.75	0.608	0.17569	.	0.294635	0.42172	N	0.000752	T	0.31888	0.0811	N	0.00170	-1.935	0.31083	N	0.711716	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.40794	-0.9544	10	0.10377	T	0.69	-17.2672	5.1117	0.14813	0.0:0.4359:0.1717:0.3924	.	1109;362;419;362	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	D	362;362;419;1109;1109	ENSP00000345137:N362D;ENSP00000344521:N362D;ENSP00000383906:N419D;ENSP00000272371:N1109D;ENSP00000385255:N1109D	ENSP00000272371:N1109D	N	-	1	0	OTOF	26550446	1.000000	0.71417	0.883000	0.34634	0.001000	0.01503	1.516000	0.35856	0.086000	0.17137	-1.243000	0.01532	AAT	OTOF	-	NULL	ENSG00000115155		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	39	0.00	0	T			26696942	26696942	-1	no_errors	ENST00000272371	ensembl	human	known	69_37n	missense	15	57.14	20	SNP	0.992	C
OTUD7A	161725	genome.wustl.edu	37	15	31776728	31776728	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:31776728A>G	ENST00000307050.4	-	11	1642	c.1550T>C	c.(1549-1551)cTg>cCg	p.L517P	OTUD7A_ENST00000382902.1_Missense_Mutation_p.L524P	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	517					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GAAGCTGCCCAGCTTGTTGGC	0.592																																						dbGAP											0													86.0	69.0	75.0					15																	31776728		2201	4300	6501	-	-	-	SO:0001583	missense	0			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1550T>C	15.37:g.31776728A>G	ENSP00000305926:p.Leu517Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWK5	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.L524P	ENST00000307050.4	37	c.1571	CCDS10026.1	15	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874960	0.72180	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.52295	0.68;0.67	4.88	4.88	0.63580	.	0.227351	0.38663	N	0.001620	T	0.64713	0.2623	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68943	0.961;0.915	T	0.68957	-0.5272	10	0.87932	D	0	-17.2562	14.5235	0.67870	1.0:0.0:0.0:0.0	.	524;517	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	P	517;524	ENSP00000305926:L517P;ENSP00000372358:L524P	ENSP00000305926:L517P	L	-	2	0	OTUD7A	29564020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.464000	0.90380	1.819000	0.53055	0.528000	0.53228	CTG	OTUD7A	-	NULL	ENSG00000169918		0.592	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	78	0.00	0	A	NM_130901		31776728	31776728	-1	no_errors	ENST00000382902	ensembl	human	known	69_37n	missense	45	38.36	28	SNP	1.000	G
PADI2	11240	genome.wustl.edu	37	1	17409045	17409045	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:17409045G>A	ENST00000375486.4	-	10	1216	c.1153C>T	c.(1153-1155)Ctc>Ttc	p.L385F	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.L269F|PADI2_ENST00000375481.1_Missense_Mutation_p.L385F	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	385					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTTACCAGGAGCTCCTTCACA	0.552																																						dbGAP											0													72.0	68.0	70.0					1																	17409045		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1153C>T	1.37:g.17409045G>A	ENSP00000364635:p.Leu385Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L385F	ENST00000375486.4	37	c.1153	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096541	0.76870	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.26067	1.76;1.76;1.76	4.73	3.82	0.43975	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	M	0.82823	2.61	0.80722	D	1	P;D	0.89917	0.85;1.0	P;D	0.97110	0.733;1.0	T	0.57866	-0.7737	10	0.62326	D	0.03	-44.4241	11.9664	0.53038	0.0853:0.0:0.9147:0.0	.	269;385	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	F	385;269;385	ENSP00000364635:L385F;ENSP00000405894:L269F;ENSP00000364630:L385F	ENSP00000364630:L385F	L	-	1	0	PADI2	17281632	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.968000	0.56809	1.360000	0.45960	0.650000	0.86243	CTC	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000117115		0.552	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	42	0.00	0	G			17409045	17409045	-1	no_errors	ENST00000375486	ensembl	human	known	69_37n	missense	50	21.54	14	SNP	1.000	A
OTUD7B	56957	genome.wustl.edu	37	1	149943110	149943110	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:149943110A>G	ENST00000369135.4	-	3	449	c.155T>C	c.(154-156)cTa>cCa	p.L52P	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	52					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGATGGGGGTAGGTTTCCAGC	0.532																																						dbGAP											0													105.0	104.0	105.0					1																	149943110		1924	4146	6070	-	-	-	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.155T>C	1.37:g.149943110A>G	ENSP00000358131:p.Leu52Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.L52P	ENST00000369135.4	37	c.155	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090926	0.76756	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.38240	1.15;1.33	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.47783	0.1464	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44711	-0.9310	9	.	.	.	-9.6631	14.2857	0.66245	1.0:0.0:0.0:0.0	.	52	Q6GQQ9	OTU7B_HUMAN	P	52	ENSP00000358131:L52P;ENSP00000408231:L52P	.	L	-	2	0	OTUD7B	148209734	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	8.658000	0.91110	2.241000	0.73720	0.528000	0.53228	CTA	OTUD7B	-	NULL	ENSG00000163113		0.532	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	82	0.00	0	A	NM_020205		149943110	149943110	-1	no_errors	ENST00000369135	ensembl	human	known	69_37n	missense	112	24.32	36	SNP	1.000	G
PBK	55872	genome.wustl.edu	37	8	27690580	27690581	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:27690580_27690581insT	ENST00000301905.4	-	2	513_514	c.50_51insA	c.(49-51)aagfs	p.K17fs	PBK_ENST00000522944.1_Frame_Shift_Ins_p.K17fs	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	17					mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K17K(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TACCAGATTTCTTTTTTTCTGA	0.322																																						dbGAP											2	Substitution - coding silent(2)	lung(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.51dupA	8.37:g.27690587_27690587dupT	ENSP00000301905:p.Lys17fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Frame_Shift_Ins	INS	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.K18fs	ENST00000301905.4	37	c.51_50	CCDS6063.1	8																																																																																			PBK	-	superfamily_Kinase-like_dom	ENSG00000168078		0.322	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBK	HGNC	protein_coding	OTTHUMT00000219952.2	249	0.00	0	-	NM_018492		27690580	27690581	-1	no_errors	ENST00000301905	ensembl	human	known	69_37n	frame_shift_ins	325	15.80	61	INS	0.952:0.950	T
PBXIP1	57326	genome.wustl.edu	37	1	154919038	154919038	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:154919038G>T	ENST00000368463.3	-	10	1183	c.1112C>A	c.(1111-1113)cCc>cAc	p.P371H	PBXIP1_ENST00000539880.1_Missense_Mutation_p.P198H|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P342H|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_Missense_Mutation_p.P216H	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	371					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-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)			CTGCTCCCTGGGGCCTTGCTC	0.637																																						dbGAP											0													65.0	59.0	61.0					1																	154919038		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1112C>A	1.37:g.154919038G>T	ENSP00000357448:p.Pro371His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	NULL	p.P371H	ENST00000368463.3	37	c.1112	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.512408	0.00984	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.11277	2.8;2.8;2.8;2.79	3.91	0.802	0.18686	.	0.921336	0.09263	N	0.826219	T	0.01730	0.0055	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47761	-0.9092	10	0.38643	T	0.18	-0.4859	4.1205	0.10103	0.2216:0.0:0.5541:0.2243	.	371	Q96AQ6	PBIP1_HUMAN	H	342;371;371;198;147;216	ENSP00000357450:P342H;ENSP00000357448:P371H;ENSP00000440142:P198H;ENSP00000438584:P216H	ENSP00000295523:P371H	P	-	2	0	PBXIP1	153185662	0.004000	0.15560	0.030000	0.17652	0.086000	0.17979	0.320000	0.19540	-0.035000	0.13691	-0.251000	0.11542	CCC	PBXIP1	-	NULL	ENSG00000163346		0.637	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	49	0.00	0	G	NM_020524		154919038	154919038	-1	no_errors	ENST00000368463	ensembl	human	known	69_37n	missense	58	10.77	7	SNP	0.003	T
PCDH17	27253	genome.wustl.edu	37	13	58206872	58206872	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:58206872C>T	ENST00000377918.3	+	1	218	c.192C>T	c.(190-192)taC>taT	p.Y64Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	64	Cadherin 1. {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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGGTAGCTACCGGGTGCTGG	0.697																																					Melanoma(72;952 1291 1619 12849 33676)	dbGAP											0													24.0	25.0	25.0					13																	58206872		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.192C>T	13.37:g.58206872C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y64	ENST00000377918.3	37	c.192	CCDS31986.1	13																																																																																			PCDH17	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.697	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	20	0.00	0	C	NM_001040429		58206872	58206872	+1	no_errors	ENST00000377918	ensembl	human	known	69_37n	silent	13	45.83	11	SNP	1.000	T
PCDH20	64881	genome.wustl.edu	37	13	61987885	61987885	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:61987885delG	ENST00000409186.1	-	5	2452	c.347delC	c.(346-348)cctfs	p.P116fs	PCDH20_ENST00000409204.4_Frame_Shift_Del_p.P116fs			Q8N6Y1	PCD20_HUMAN	protocadherin 20	116	Cadherin 1. {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)		GAAGGAGAGAGGGGGGTTCCA	0.682																																						dbGAP											0													24.0	21.0	22.0					13																	61987885		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			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.347delC	13.37:g.61987885delG	ENSP00000386653:p.Pro116fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P116fs	ENST00000409186.1	37	c.347	CCDS9442.2	13																																																																																			PCDH20	-	pfscan_Cadherin	ENSG00000197991		0.682	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	19	0.00	0	G	NM_022843		61987885	61987885	-1	no_errors	ENST00000409186	ensembl	human	known	69_37n	frame_shift_del	13	27.78	5	DEL	0.967	-
PCDHA7	56141	genome.wustl.edu	37	5	140214295	140214295	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:140214295C>G	ENST00000525929.1	+	1	327	c.327C>G	c.(325-327)atC>atG	p.I109M	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.I109M|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGAAAGGC	0.552																																					NSCLC(160;258 2013 5070 22440 28951)	dbGAP											0													144.0	172.0	163.0					5																	140214295		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.327C>G	5.37:g.140214295C>G	ENSP00000436426:p.Ile109Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I109M	ENST00000525929.1	37	c.327	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582231	0.46006	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.31510	1.49;1.49	3.99	3.08	0.35506	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.263686	0.18934	N	0.127123	T	0.46112	0.1376	M	0.76170	2.325	0.23162	N	0.998199	P;D	0.53745	0.859;0.962	P;P	0.60286	0.872;0.766	T	0.31475	-0.9942	10	0.72032	D	0.01	.	5.3857	0.16216	0.0:0.4524:0.3684:0.1793	.	109;109	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	109	ENSP00000436426:I109M;ENSP00000367365:I109M	ENSP00000367365:I109M	I	+	3	3	PCDHA7	140194479	0.000000	0.05858	1.000000	0.80357	0.947000	0.59692	-4.066000	0.00302	0.743000	0.32719	0.449000	0.29647	ATC	PCDHA7	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204963		0.552	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	92	0.00	0	C	NM_018910		140214295	140214295	+1	no_errors	ENST00000525929	ensembl	human	known	69_37n	missense	116	13.43	18	SNP	0.891	G
PCDHA7	56141	genome.wustl.edu	37	5	140215804	140215804	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:140215804A>G	ENST00000525929.1	+	1	1836	c.1836A>G	c.(1834-1836)caA>caG	p.Q612Q	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.Q612Q|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGTTGCAACCGGTGGCGG	0.647																																					NSCLC(160;258 2013 5070 22440 28951)	dbGAP											0													118.0	113.0	115.0					5																	140215804		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1836A>G	5.37:g.140215804A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q612	ENST00000525929.1	37	c.1836	CCDS54918.1	5																																																																																			PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204963		0.647	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	91	0.00	0	A	NM_018910		140215804	140215804	+1	no_errors	ENST00000525929	ensembl	human	known	69_37n	silent	76	14.44	13	SNP	0.001	G
PCDHA10	56139	genome.wustl.edu	37	5	140236696	140236696	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:140236696T>C	ENST00000307360.5	+	1	1063	c.1063T>C	c.(1063-1065)Tct>Cct	p.S355P	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S355P|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	355	Cadherin 4. {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)			CACTTCTCTGTCTCTCCCAGT	0.488																																						dbGAP											0													156.0	142.0	147.0					5																	140236696		2196	4274	6470	-	-	-	SO:0001583	missense	0			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.1063T>C	5.37:g.140236696T>C	ENSP00000304234:p.Ser355Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S355P	ENST00000307360.5	37	c.1063	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	T	12.69	2.012400	0.35511	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.20881	4.59;2.04	4.15	0.43	0.16515	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.44286	0.1286	M	0.81614	2.55	0.09310	N	1	D;D;P	0.62365	0.991;0.985;0.951	D;D;P	0.65874	0.939;0.932;0.851	T	0.33497	-0.9866	9	0.52906	T	0.07	.	12.2629	0.54661	0.0:0.0:0.322:0.678	.	355;355;355	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	P	355	ENSP00000421030:S355P;ENSP00000304234:S355P	ENSP00000304234:S355P	S	+	1	0	PCDHA10	140216880	0.000000	0.05858	0.504000	0.27639	0.961000	0.63080	-0.002000	0.12924	-0.009000	0.14296	0.459000	0.35465	TCT	PCDHA10	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000250120		0.488	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	91	0.00	0	T	NM_018901		140236696	140236696	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	91	22.03	26	SNP	0.003	C
PCDHB6	56130	genome.wustl.edu	37	5	140531205	140531205	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:140531205T>C	ENST00000231136.1	+	1	1367	c.1367T>C	c.(1366-1368)cTg>cCg	p.L456P	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L320P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	456	Cadherin 5. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTACACCCTGTTCGTCCGC	0.597																																						dbGAP											0													81.0	90.0	87.0					5																	140531205		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1367T>C	5.37:g.140531205T>C	ENSP00000231136:p.Leu456Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L456P	ENST00000231136.1	37	c.1367	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610845	0.46527	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01745	4.66;4.66	4.18	4.18	0.49190	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08223	0.0205	M	0.71036	2.16	0.20196	N	0.99993	D	0.89917	1.0	D	0.80764	0.994	T	0.11372	-1.0590	9	0.87932	D	0	.	8.3802	0.32466	0.0:0.0899:0.0:0.9101	.	456	Q9Y5E3	PCDB6_HUMAN	P	320;456;241	ENSP00000438466:L320P;ENSP00000231136:L456P	ENSP00000231136:L456P	L	+	2	0	PCDHB6	140511389	0.000000	0.05858	0.751000	0.31187	0.986000	0.74619	0.311000	0.19380	1.665000	0.50811	0.397000	0.26171	CTG	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113211		0.597	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	76	0.00	0	T	NM_018939		140531205	140531205	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	missense	63	17.95	14	SNP	0.003	C
PCDHGA7	56108	genome.wustl.edu	37	5	140763960	140763960	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:140763960G>T	ENST00000518325.1	+	1	1494	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	498	Cadherin 5. {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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCCAGGGGGCTCCAGTGT	0.507																																						dbGAP											0													44.0	47.0	46.0					5																	140763960		1952	4180	6132	-	-	-	SO:0001819	synonymous_variant	0			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1494G>T	5.37:g.140763960G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN87|Q9Y5D0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G498	ENST00000518325.1	37	c.1494	CCDS54927.1	5																																																																																			PCDHGA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253537		0.507	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	42	0.00	0	G	NM_018920		140763960	140763960	+1	no_errors	ENST00000518325	ensembl	human	known	69_37n	silent	53	22.06	15	SNP	0.001	T
PCDHGC5	56097	genome.wustl.edu	37	5	140869786	140869786	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:140869786C>G	ENST00000252087.1	+	1	979	c.979C>G	c.(979-981)Cag>Gag	p.Q327E	PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCAGGGACAGCCTGCCAT	0.542																																						dbGAP											0													73.0	71.0	72.0					5																	140869786		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.979C>G	5.37:g.140869786C>G	ENSP00000252087:p.Gln327Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q327E	ENST00000252087.1	37	c.979	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.884328	0.00532	.	.	ENSG00000240764	ENST00000252087	T	0.01629	4.72	5.95	4.06	0.47325	Cadherin (5);Cadherin-like (1);	0.000000	0.52532	D	0.000075	T	0.01421	0.0046	N	0.21240	0.645	0.18873	N	0.999984	P;B	0.37015	0.578;0.304	B;B	0.39562	0.201;0.303	T	0.48758	-0.9007	10	0.14252	T	0.57	.	5.4941	0.16793	0.1341:0.4103:0.3815:0.0742	.	327;327	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	E	327	ENSP00000252087:Q327E	ENSP00000252087:Q327E	Q	+	1	0	PCDHGC5	140849970	0.000000	0.05858	0.999000	0.59377	0.002000	0.02628	0.519000	0.22862	1.506000	0.48736	-0.302000	0.09304	CAG	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000240764		0.542	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	62	0.00	0	C	NM_018929		140869786	140869786	+1	no_errors	ENST00000252087	ensembl	human	known	69_37n	missense	89	11.00	11	SNP	0.348	G
PCM1	5108	genome.wustl.edu	37	8	17819685	17819685	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:17819685T>C	ENST00000519253.1	+	16	2714		c.e16+2		PCM1_ENST00000524226.1_Splice_Site|PCM1_ENST00000325083.8_Splice_Site			Q15154	PCM1_HUMAN	pericentriolar material 1						centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GATAATGAGGTATTGTAAATT	0.353			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	dbGAP		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													60.0	58.0	58.0					8																	17819685		1841	4092	5933	-	-	-	SO:0001630	splice_region_variant	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2463+2T>C	8.37:g.17819685T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Splice_Site	SNP	-	e14+2	ENST00000519253.1	37	c.2463+2		8	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677203	0.68042	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9821	0.80116	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCM1	17863965	1.000000	0.71417	0.988000	0.46212	0.879000	0.50718	5.477000	0.66799	2.235000	0.73313	0.533000	0.62120	.	PCM1	-	-	ENSG00000078674		0.353	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	71	0.00	0	T	NM_006197	Intron	17819685	17819685	+1	no_errors	ENST00000325083	ensembl	human	known	69_37n	splice_site	93	21.85	26	SNP	0.999	C
PCSK2	5126	genome.wustl.edu	37	20	17462282	17462282	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:17462282A>C	ENST00000262545.2	+	12	1799	c.1484A>C	c.(1483-1485)gAg>gCg	p.E495A	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.E460A|PCSK2_ENST00000377899.1_Missense_Mutation_p.E476A	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	495					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GACGCCTGTGAGGGGAAGGAA	0.527																																						dbGAP											0													122.0	111.0	115.0					20																	17462282		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1484A>C	20.37:g.17462282A>C	ENSP00000262545:p.Glu495Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E495A	ENST00000262545.2	37	c.1484	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692278	0.30052	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.62105	0.05;0.05;0.05	5.83	5.83	0.93111	Galactose-binding domain-like (1);	0.092366	0.85682	D	0.000000	T	0.49098	0.1537	N	0.25201	0.72	0.58432	D	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.002;0.003	T	0.40156	-0.9578	10	0.30854	T	0.27	-43.0693	15.0239	0.71653	1.0:0.0:0.0:0.0	.	460;476;495	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	A	476;495;460	ENSP00000367131:E476A;ENSP00000262545:E495A;ENSP00000437458:E460A	ENSP00000262545:E495A	E	+	2	0	PCSK2	17410282	1.000000	0.71417	0.975000	0.42487	0.950000	0.60333	9.302000	0.96175	2.224000	0.72417	0.477000	0.44152	GAG	PCSK2	-	superfamily_Galactose-bd-like	ENSG00000125851		0.527	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	64	0.00	0	A	NM_002594		17462282	17462282	+1	no_errors	ENST00000262545	ensembl	human	known	69_37n	missense	83	11.70	11	SNP	1.000	C
PDCD7	10081	genome.wustl.edu	37	15	65421426	65421426	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:65421426A>T	ENST00000204549.4	-	2	1007	c.953T>A	c.(952-954)aTt>aAt	p.I318N		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	318					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						AGCCCGTAGAATGTCCACCAT	0.468																																						dbGAP											0													363.0	345.0	351.0					15																	65421426		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.953T>A	15.37:g.65421426A>T	ENSP00000204549:p.Ile318Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AK8|Q9Y6D7	Missense_Mutation	SNP	NULL	p.I318N	ENST00000204549.4	37	c.953	CCDS10201.1	15	.	.	.	.	.	.	.	.	.	.	A	28.4	4.915767	0.92178	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	5.83	5.83	0.93111	.	0.063541	0.64402	D	0.000008	T	0.66616	0.2807	M	0.72118	2.19	0.51233	D	0.999918	P	0.51537	0.946	P	0.49012	0.598	T	0.71833	-0.4473	9	0.87932	D	0	-0.796	16.194	0.82011	1.0:0.0:0.0:0.0	.	318	Q8N8D1	PDCD7_HUMAN	N	318;103;112	.	ENSP00000204549:I318N	I	-	2	0	PDCD7	63208479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.225000	0.72522	0.460000	0.39030	ATT	PDCD7	-	NULL	ENSG00000090470		0.468	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD7	HGNC	protein_coding	OTTHUMT00000256784.2	222	0.00	0	A	NM_005707		65421426	65421426	-1	no_errors	ENST00000204549	ensembl	human	known	69_37n	missense	252	18.12	56	SNP	1.000	T
PDIK1L	149420	genome.wustl.edu	37	1	26440821	26440821	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:26440821T>A	ENST00000374271.4	+	3	309	c.22T>A	c.(22-24)Tac>Aac	p.Y8N	PDIK1L_ENST00000374269.1_Missense_Mutation_p.Y8N	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	8	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCCAAAGTACGATCTAAT	0.443																																						dbGAP											0													108.0	91.0	97.0					1																	26440821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.22T>A	1.37:g.26440821T>A	ENSP00000363389:p.Tyr8Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R777|D3DPK2|Q5T2I0|Q8NDB3	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.Y8N	ENST00000374271.4	37	c.22	CCDS274.1	1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967024	0.92855	.	.	ENSG00000175087	ENST00000444713;ENST00000374271;ENST00000374269	T;T;T	0.37235	1.21;1.21;1.21	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.88775	2.98	0.40083	D	0.976154	D	0.76494	0.999	D	0.80764	0.994	T	0.74808	-0.3539	10	0.87932	D	0	-12.4056	16.2316	0.82347	0.0:0.0:0.0:1.0	.	8	Q8N165	PDK1L_HUMAN	N	8	ENSP00000406510:Y8N;ENSP00000363389:Y8N;ENSP00000363387:Y8N	ENSP00000363387:Y8N	Y	+	1	0	PDIK1L	26313408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.996000	0.88334	2.308000	0.77769	0.533000	0.62120	TAC	PDIK1L	-	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	ENSG00000175087		0.443	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIK1L	HGNC	protein_coding	OTTHUMT00000019752.1	75	0.00	0	T	NM_152835		26440821	26440821	+1	no_errors	ENST00000374269	ensembl	human	known	69_37n	missense	69	49.26	67	SNP	1.000	A
PDRG1	81572	genome.wustl.edu	37	20	30534319	30534319	+	Missense_Mutation	SNP	T	T	C	rs200378363		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:30534319T>C	ENST00000202017.4	-	4	429	c.299A>G	c.(298-300)aAc>aGc	p.N100S		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	100					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAAAAGGCGGTTGACCTTCAC	0.463																																						dbGAP											0													162.0	147.0	152.0					20																	30534319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"""chromosome 20 open reading frame 126"""	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.299A>G	20.37:g.30534319T>C	ENSP00000202017:p.Asn100Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R511|Q96GP3|Q9BUW8	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.N100S	ENST00000202017.4	37	c.299	CCDS13194.1	20	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231216	0.39399	.	.	ENSG00000088356	ENST00000202017	T	0.40756	1.02	5.94	0.945	0.19543	Prefoldin beta-like (1);	0.122019	0.85682	N	0.000000	T	0.32224	0.0822	L	0.56124	1.755	0.44323	D	0.997204	B	0.06786	0.001	B	0.14023	0.01	T	0.08493	-1.0719	10	0.45353	T	0.12	-5.4449	5.1569	0.15040	0.0:0.2349:0.1421:0.623	.	100	Q9NUG6	PDRG1_HUMAN	S	100	ENSP00000202017:N100S	ENSP00000202017:N100S	N	-	2	0	PDRG1	29997980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.559000	0.23485	0.131000	0.18576	0.460000	0.39030	AAC	PDRG1	-	pfam_PFD_beta-like,superfamily_Prefoldin	ENSG00000088356		0.463	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDRG1	HGNC	protein_coding	OTTHUMT00000078593.2	88	0.00	0	T	NM_030815		30534319	30534319	-1	no_errors	ENST00000202017	ensembl	human	known	69_37n	missense	82	34.13	43	SNP	0.999	C
PDS5B	23047	genome.wustl.edu	37	13	33344580	33344580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:33344580delA	ENST00000315596.10	+	32	4132	c.3946delA	c.(3946-3948)aaafs	p.K1318fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1318					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)	p.K1318fs*76(1)		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)		AAAAGGAAGCAAAAAAAAATC	0.443																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)								12,3522		1,10,1756	36.0	35.0	36.0			4.2	1.0	13		36	23,7817		2,19,3899	no	frameshift	PDS5B	NM_015032.3		3,29,5655	A1A1,A1R,RR		0.2934,0.3396,0.3077			33344580	35,11339	1833	4094	5927	-	-	-	SO:0001589	frameshift_variant	0			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.3946delA	13.37:g.33344580delA	ENSP00000313851:p.Lys1318fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.K1318fs	ENST00000315596.10	37	c.3946	CCDS41878.1	13																																																																																			PDS5B	-	NULL	ENSG00000083642		0.443	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	27	0.00	0	A	NM_015032		33344580	33344580	+1	no_errors	ENST00000315596	ensembl	human	known	69_37n	frame_shift_del	35	12.50	5	DEL	1.000	-
PDYN	5173	genome.wustl.edu	37	20	1961210	1961210	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:1961210T>C	ENST00000217305.2	-	4	749	c.524A>G	c.(523-525)tAt>tGt	p.Y175C	PDYN_ENST00000539905.1_Missense_Mutation_p.Y175C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.Y175C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	175					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAAGCCCCCATAGCGTTTGAC	0.587																																						dbGAP											0													103.0	105.0	104.0					20																	1961210		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.524A>G	20.37:g.1961210T>C	ENSP00000217305:p.Tyr175Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Q3	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept	p.Y175C	ENST00000217305.2	37	c.524	CCDS13023.1	20	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040339	0.75732	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.90385	-2.66;-2.66;-2.66	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-10.4722	12.4466	0.55654	0.0:0.0:0.0:1.0	.	175	P01213	PDYN_HUMAN	C	175	ENSP00000440185:Y175C;ENSP00000442259:Y175C;ENSP00000217305:Y175C	ENSP00000217305:Y175C	Y	-	2	0	PDYN	1909210	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.103000	0.71492	2.046000	0.60703	0.402000	0.26972	TAT	PDYN	-	prints_Opioid_neupept	ENSG00000101327		0.587	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDYN	HGNC	protein_coding	OTTHUMT00000077569.2	81	0.00	0	T			1961210	1961210	-1	no_errors	ENST00000217305	ensembl	human	known	69_37n	missense	55	43.88	43	SNP	1.000	C
PEG3	5178	genome.wustl.edu	37	19	57327372	57327372	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:57327372A>G	ENST00000326441.9	-	10	2801	c.2438T>C	c.(2437-2439)aTc>aCc	p.I813T	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.I813T|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.I689T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.I687T|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	813					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGATGGTTGATAGCATCGAA	0.473																																						dbGAP											0													136.0	130.0	132.0					19																	57327372		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2438T>C	19.37:g.57327372A>G	ENSP00000326581:p.Ile813Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	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.I813T	ENST00000326441.9	37	c.2438	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	A	4.337	0.061878	0.08339	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02812	4.15;4.15	4.11	-5.38	0.02673	.	0.954163	0.08658	N	0.912829	T	0.02418	0.0074	L	0.33093	0.98	.	.	.	B;B;B	0.23540	0.0;0.087;0.064	B;B;B	0.16289	0.001;0.012;0.015	T	0.40553	-0.9557	9	0.23302	T	0.38	-0.0108	11.8119	0.52188	0.4242:0.0:0.5758:0.0	.	689;813;748	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	813	ENSP00000326581:I813T;ENSP00000403051:I813T	ENSP00000326581:I813T	I	-	2	0	ZIM2	62019184	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.453000	0.02383	-1.254000	0.02485	0.477000	0.44152	ATC	PEG3	-	NULL	ENSG00000198300		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	58	0.00	0	A			57327372	57327372	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	70	33.33	35	SNP	0.000	G
PELP1	27043	genome.wustl.edu	37	17	4578434	4578434	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:4578434A>G	ENST00000574876.1	-	11	1231	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A	PELP1_ENST00000572293.1_Missense_Mutation_p.V455A|PELP1_ENST00000436683.2_Missense_Mutation_p.V258A|PELP1_ENST00000269230.7_Missense_Mutation_p.V403A|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000301396.4_Missense_Mutation_p.V549A			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	405					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGAATTGAGGACCTGGGGAAG	0.592																																						dbGAP											0													30.0	31.0	31.0					17																	4578434		1924	4125	6049	-	-	-	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1214T>C	17.37:g.4578434A>G	ENSP00000461625:p.Val405Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.V549A	ENST00000574876.1	37	c.1646	CCDS58503.1	17	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144654	0.37825	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.69806	-0.43;-0.34;-0.3	5.59	5.59	0.84812	.	0.217177	0.40222	N	0.001158	T	0.64057	0.2564	L	0.54323	1.7	0.30456	N	0.774745	P;P	0.46656	0.882;0.882	B;B	0.43701	0.351;0.428	T	0.66528	-0.5901	10	0.29301	T	0.29	-29.2226	13.6973	0.62587	1.0:0.0:0.0:0.0	.	258;405	E7EV54;Q8IZL8	.;PELP1_HUMAN	A	549;403;258	ENSP00000301396:V549A;ENSP00000269230:V403A;ENSP00000416231:V258A	ENSP00000269230:V403A	V	-	2	0	AC091153.1	4525183	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.258000	0.58822	2.129000	0.65627	0.459000	0.35465	GTC	PELP1	-	NULL	ENSG00000141456		0.592	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	18	0.00	0	A	NM_014389		4578434	4578434	-1	no_errors	ENST00000301396	ensembl	human	known	69_37n	missense	18	52.63	20	SNP	1.000	G
PER2	8864	genome.wustl.edu	37	2	239165684	239165684	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:239165684A>G	ENST00000254657.3	-	17	2223	c.1944T>C	c.(1942-1944)ggT>ggC	p.G648G	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	648	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGGTGCGTACCTACTCCCG	0.592											OREG0015336	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													74.0	69.0	70.0					2																	239165684		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1944T>C	2.37:g.239165684A>G		Somatic	2409	WXS	Illumina GAIIx	Phase_IV	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.G648	ENST00000254657.3	37	c.1944	CCDS2528.1	2																																																																																			PER2	-	NULL	ENSG00000132326		0.592	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	63	0.00	0	A	NM_022817		239165684	239165684	-1	no_errors	ENST00000254657	ensembl	human	known	69_37n	silent	36	34.55	19	SNP	0.000	G
PEX6	5190	genome.wustl.edu	37	6	42934554	42934554	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:42934554T>G	ENST00000304611.8	-	9	1996	c.1927A>C	c.(1927-1929)Agc>Cgc	p.S643R	PEX6_ENST00000244546.4_Missense_Mutation_p.S643R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	643					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCTGCCCGGCTGCTGTGGGTC	0.577																																						dbGAP											0													178.0	181.0	180.0					6																	42934554		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1927A>C	6.37:g.42934554T>G	ENSP00000303511:p.Ser643Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.S643R	ENST00000304611.8	37	c.1927	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	T	13.85	2.358858	0.41801	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.77358	-1.09;-1.09	5.35	4.17	0.49024	.	0.229502	0.53938	D	0.000047	T	0.58609	0.2134	L	0.51422	1.61	0.39007	D	0.95946	B	0.19200	0.034	B	0.18263	0.021	T	0.61342	-0.7082	10	0.87932	D	0	-10.1852	10.2781	0.43523	0.1469:0.0:0.0:0.8531	.	643	Q13608	PEX6_HUMAN	R	643	ENSP00000303511:S643R;ENSP00000244546:S643R	ENSP00000244546:S643R	S	-	1	0	PEX6	43042532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.458000	0.35223	0.829000	0.34733	0.379000	0.24179	AGC	PEX6	-	NULL	ENSG00000124587		0.577	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	70	0.00	0	T	NM_000287		42934554	42934554	-1	no_errors	ENST00000304611	ensembl	human	known	69_37n	missense	61	36.46	35	SNP	1.000	G
PFKFB2	5208	genome.wustl.edu	37	1	207241610	207241610	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:207241610G>T	ENST00000367080.3	+	10	1067	c.943G>T	c.(943-945)Ggg>Tgg	p.G315W	PFKFB2_ENST00000541914.1_Missense_Mutation_p.G129W|PFKFB2_ENST00000367079.2_Missense_Mutation_p.G315W|PFKFB2_ENST00000545806.1_Missense_Mutation_p.G282W|PFKFB2_ENST00000411990.2_Missense_Mutation_p.G217W	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	315	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TGAATCTCTCGGGGTGCCCTA	0.483																																						dbGAP											0													93.0	89.0	90.0					1																	207241610		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.943G>T	1.37:g.207241610G>T	ENSP00000356047:p.Gly315Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.G315W	ENST00000367080.3	37	c.943	CCDS31004.1	1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896522	0.72639	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.67	5.67	0.87782	Histidine phosphatase superfamily, clade-1 (2);	0.044791	0.85682	D	0.000000	D	0.89966	0.6868	H	0.96748	3.875	0.54753	D	0.999982	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79108	0.959;0.992;0.954;0.979	D	0.92895	0.6334	10	0.87932	D	0	.	18.7645	0.91866	0.0:0.0:1.0:0.0	.	129;217;315;315	B4DI16;B4DY91;Q5VVQ3;O60825	.;.;.;F262_HUMAN	W	217;315;315;282;129	ENSP00000408717:G217W;ENSP00000356047:G315W;ENSP00000356046:G315W;ENSP00000439420:G282W;ENSP00000440878:G129W	ENSP00000356046:G315W	G	+	1	0	PFKFB2	205308233	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.439000	0.52878	2.684000	0.91462	0.650000	0.86243	GGG	PFKFB2	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000123836		0.483	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	HGNC	protein_coding	OTTHUMT00000087838.1	65	0.00	0	G			207241610	207241610	+1	no_errors	ENST00000367080	ensembl	human	known	69_37n	missense	79	21.78	22	SNP	1.000	T
PGS1	9489	genome.wustl.edu	37	17	76420260	76420260	+	3'UTR	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:76420260C>A	ENST00000262764.6	+	0	1826				DNAH17_ENST00000389840.5_Intron|DNAH17_ENST00000586052.1_Intron|PGS1_ENST00000588281.1_3'UTR|DNAH17_ENST00000585328.1_Intron|AC061992.1_ENST00000600087.1_5'Flank	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GGCTGAGGGTCAGGTGTGCTG	0.642																																					Esophageal Squamous(45;182 1126 10685 43198)	dbGAP											0													16.0	18.0	17.0					17																	76420260		2201	4293	6494	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.*129C>A	17.37:g.76420260C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	RNA	SNP	-	NULL	ENST00000262764.6	37	NULL	CCDS42391.1	17																																																																																			PGS1	-	-	ENSG00000087157		0.642	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	HGNC	protein_coding	OTTHUMT00000437301.1	24	0.00	0	C	NM_024419		76420260	76420260	+1	no_errors	ENST00000588281	ensembl	human	known	69_37n	rna	26	27.78	10	SNP	0.005	A
PHKA1	5255	genome.wustl.edu	37	X	71800923	71800923	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:71800923T>G	ENST00000373542.4	-	32	3760	c.3601A>C	c.(3601-3603)Acc>Ccc	p.T1201P	PHKA1_ENST00000541944.1_Missense_Mutation_p.T1129P|PHKA1_ENST00000373539.3_Missense_Mutation_p.T1218P|PHKA1_ENST00000373545.3_Missense_Mutation_p.T1159P|PHKA1_ENST00000339490.3_Missense_Mutation_p.T1188P	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1201					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAGAGGTAGGTCATGGTGCCA	0.567																																						dbGAP											0													94.0	72.0	79.0					X																	71800923		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3601A>C	X.37:g.71800923T>G	ENSP00000362643:p.Thr1201Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T1218P	ENST00000373542.4	37	c.3652	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125189	0.77436	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	4.96	3.79	0.43588	.	0.100391	0.64402	D	0.000002	D	0.96873	0.8979	M	0.87758	2.905	0.58432	D	0.99999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.987;0.999;0.999	D	0.95711	0.8758	10	0.72032	D	0.01	-10.0109	7.8958	0.29706	0.0:0.101:0.0:0.899	.	1129;1159;1188;1201	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	P	1159;1201;1129;1188;1218	ENSP00000362646:T1159P;ENSP00000362643:T1201P;ENSP00000441251:T1129P;ENSP00000342469:T1188P;ENSP00000362640:T1218P	ENSP00000342469:T1188P	T	-	1	0	PHKA1	71717648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.874000	0.69652	0.574000	0.29417	0.437000	0.28790	ACC	PHKA1	-	NULL	ENSG00000067177		0.567	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	102	0.00	0	T			71800923	71800923	-1	no_errors	ENST00000373539	ensembl	human	known	69_37n	missense	64	28.89	26	SNP	1.000	G
PHLDB2	90102	genome.wustl.edu	37	3	111685516	111685516	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:111685516C>T	ENST00000431670.2	+	14	3545	c.3134C>T	c.(3133-3135)gCt>gTt	p.A1045V	PHLDB2_ENST00000481953.1_Missense_Mutation_p.A1002V|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.A536V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A1002V|PHLDB2_ENST00000393925.3_Missense_Mutation_p.A1045V|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A1029V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1045						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTGAAGCAGGCTCATGCAGAA	0.468																																						dbGAP											0													82.0	92.0	88.0					3																	111685516		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3134C>T	3.37:g.111685516C>T	ENSP00000405405:p.Ala1045Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A1045V	ENST00000431670.2	37	c.3134	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.717456	0.96839	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.999;0.999;0.999	T	0.71642	-0.4531	10	0.54805	T	0.06	.	18.8071	0.92041	0.0:1.0:0.0:0.0	.	164;536;1045;1002;1029	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	V	1029;1045;1002;1002;1045;1002;536	ENSP00000377500:A1029V;ENSP00000405405:A1045V;ENSP00000405292:A1002V;ENSP00000418296:A1002V;ENSP00000377502:A1045V;ENSP00000418319:A1002V;ENSP00000420303:A536V	ENSP00000377500:A1029V	A	+	2	0	PHLDB2	113168206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.410000	0.80065	2.818000	0.97014	0.591000	0.81541	GCT	PHLDB2	-	NULL	ENSG00000144824		0.468	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	51	0.00	0	C	NM_145753		111685516	111685516	+1	no_errors	ENST00000393925	ensembl	human	known	69_37n	missense	78	34.45	41	SNP	1.000	T
PIGG	54872	genome.wustl.edu	37	4	515577	515577	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:515577C>T	ENST00000453061.2	+	8	1567	c.1461C>T	c.(1459-1461)caC>caT	p.H487H	PIGG_ENST00000509768.1_Silent_p.H398H|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.H354H|PIGG_ENST00000504346.1_Silent_p.H398H|PIGG_ENST00000310340.5_Silent_p.H479H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	487					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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGGCCGTTCACGTCATTGTGT	0.572																																						dbGAP											0													199.0	168.0	179.0					4																	515577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1461C>T	4.37:g.515577C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.H487	ENST00000453061.2	37	c.1461	CCDS46992.1	4																																																																																			PIGG	-	NULL	ENSG00000174227		0.572	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	258	0.00	0	C	NM_017733		515577	515577	+1	no_errors	ENST00000453061	ensembl	human	known	69_37n	silent	237	15.90	45	SNP	0.734	T
PIH1D2	120379	genome.wustl.edu	37	11	111943778	111943778	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:111943778C>G	ENST00000280350.4	-	2	343	c.121G>C	c.(121-123)Ggg>Cgg	p.G41R	PIH1D2_ENST00000530641.1_Missense_Mutation_p.G41R|PIH1D2_ENST00000532211.1_Missense_Mutation_p.G41R|C11orf57_ENST00000530104.1_5'Flank|C11orf57_ENST00000532163.1_5'Flank|PIH1D2_ENST00000431456.1_Missense_Mutation_p.G41R|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000528775.1_Missense_Mutation_p.G41R|C11orf57_ENST00000420986.2_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	41										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AGCTGTTTCCCTTCTTTCAGC	0.488																																						dbGAP											0													101.0	91.0	94.0					11																	111943778		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.121G>C	11.37:g.111943778C>G	ENSP00000280350:p.Gly41Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU48|E9PD82	Missense_Mutation	SNP	NULL	p.G41R	ENST00000280350.4	37	c.121	CCDS8355.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.980895|3.980895	0.74474|0.74474	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.15139|.	2.45;2.45;2.45;2.45;2.45;2.45|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.213804|.	0.49305|.	N|.	0.000147|.	T|T	0.77232|0.77232	0.4100|0.4100	M|M	0.78916|0.78916	2.43|2.43	0.50813|0.50813	D|D	0.999899|0.999899	D;D;D|.	0.64830|.	0.994;0.994;0.992|.	P;D;P|.	0.63957|.	0.872;0.92;0.856|.	T|T	0.77552|0.77552	-0.2545|-0.2545	10|5	0.21014|.	T|.	0.42|.	-14.9103|-14.9103	17.5246|17.5246	0.87796|0.87796	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	41;41;41|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	R|T	41;41;41;41;41;6|13	ENSP00000434275:G41R;ENSP00000388209:G41R;ENSP00000431841:G41R;ENSP00000280350:G41R;ENSP00000431147:G41R;ENSP00000433297:G6R|.	ENSP00000280350:G41R|.	G|R	-|-	1|2	0|0	PIH1D2|PIH1D2	111448988|111448988	0.919000|0.919000	0.31177|0.31177	0.935000|0.935000	0.37517|0.37517	0.605000|0.605000	0.37080|0.37080	4.706000|4.706000	0.61845|0.61845	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GGG|AGG	PIH1D2	-	NULL	ENSG00000150773		0.488	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D2	HGNC	protein_coding	OTTHUMT00000391916.1	42	0.00	0	C	NM_138789		111943778	111943778	-1	no_errors	ENST00000280350	ensembl	human	known	69_37n	missense	93	13.08	14	SNP	0.942	G
PIK3R1	5295	genome.wustl.edu	37	5	67592114	67592114	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:67592114G>T	ENST00000521381.1	+	15	2546	c.1930G>T	c.(1930-1932)Ggc>Tgc	p.G644C	PIK3R1_ENST00000320694.8_Missense_Mutation_p.G344C|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G281C|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G374C|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G644C|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G644C|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G652C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	644	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAGCGAGATGGCACTTTTCT	0.458			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											180.0	171.0	174.0					5																	67592114		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1930G>T	5.37:g.67592114G>T	ENSP00000428056:p.Gly644Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.G652C	ENST00000521381.1	37	c.1954	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898171	0.91962	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.95	4.95	0.65309	SH2 motif (4);	0.045612	0.85682	D	0.000000	D	0.99058	0.9677	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99243	1.0885	10	0.87932	D	0	-14.6346	18.3669	0.90394	0.0:0.0:1.0:0.0	.	374;344;644	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	C	644;644;652;644;344;374;281	ENSP00000428056:G644C;ENSP00000429277:G644C;ENSP00000379855:G652C;ENSP00000274335:G644C;ENSP00000323512:G344C;ENSP00000338554:G374C;ENSP00000430098:G281C	ENSP00000274335:G644C	G	+	1	0	PIK3R1	67627870	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	9.657000	0.98554	2.583000	0.87209	0.650000	0.86243	GGC	PIK3R1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000145675		0.458	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	109	0.00	0	G	NM_181504		67592114	67592114	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	missense	82	29.31	34	SNP	1.000	T
PIK3R1	5295	genome.wustl.edu	37	5	67593261	67593261	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:67593261T>A	ENST00000521381.1	+	16	2623	c.2007T>A	c.(2005-2007)caT>caA	p.H669Q	PIK3R1_ENST00000320694.8_Missense_Mutation_p.H369Q|PIK3R1_ENST00000523872.1_Missense_Mutation_p.H306Q|PIK3R1_ENST00000336483.5_Missense_Mutation_p.H399Q|PIK3R1_ENST00000274335.5_Missense_Mutation_p.H669Q|PIK3R1_ENST00000521657.1_Missense_Mutation_p.H669Q|PIK3R1_ENST00000396611.1_Missense_Mutation_p.H677Q	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	669	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAGTAAAGCATTGTGTCATAA	0.433			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											174.0	164.0	167.0					5																	67593261		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.2007T>A	5.37:g.67593261T>A	ENSP00000428056:p.His669Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.H677Q	ENST00000521381.1	37	c.2031	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190393	0.58017	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	4.96	-4.51	0.03483	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.80764	0.971;0.983;0.994	D	0.95686	0.8736	10	0.87932	D	0	-24.1815	17.6724	0.88222	0.0:0.8951:0.0:0.1049	.	399;369;669	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	Q	669;669;677;669;369;399;306	ENSP00000428056:H669Q;ENSP00000429277:H669Q;ENSP00000379855:H677Q;ENSP00000274335:H669Q;ENSP00000323512:H369Q;ENSP00000338554:H399Q;ENSP00000430098:H306Q	ENSP00000274335:H669Q	H	+	3	2	PIK3R1	67629017	0.948000	0.32251	0.895000	0.35142	0.821000	0.46438	0.118000	0.15605	-1.302000	0.02335	-0.250000	0.11733	CAT	PIK3R1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000145675		0.433	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	90	0.00	0	T	NM_181504		67593261	67593261	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	missense	104	32.47	50	SNP	1.000	A
PIK3R3	8503	genome.wustl.edu	37	1	46521525	46521525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:46521525delT	ENST00000262741.5	-	7	1572	c.883delA	c.(883-885)atgfs	p.M295fs	PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.M341fs|PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.M295fs|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.M295fs|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Intron	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	295					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	ATGCTATTCATTTTTTTATCT	0.428																																						dbGAP											0													200.0	186.0	191.0					1																	46521525		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.883delA	1.37:g.46521525delT	ENSP00000262741:p.Met295fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Frame_Shift_Del	DEL	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.M341fs	ENST00000262741.5	37	c.1021	CCDS529.1	1																																																																																			PIK3R3	-	prints_PI3kinase_P85	ENSG00000117461		0.428	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	142	0.00	0	T	NM_003629		46521525	46521525	-1	no_errors	ENST00000540385	ensembl	human	known	69_37n	frame_shift_del	222	20.07	56	DEL	1.000	-
PIK3R4	30849	genome.wustl.edu	37	3	130449170	130449170	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:130449170T>G	ENST00000356763.3	-	5	2124	c.1567A>C	c.(1567-1569)Aat>Cat	p.N523H		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	523					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TAATTTCCATTTGGATGTGTA	0.318																																						dbGAP											0													99.0	101.0	100.0					3																	130449170		2202	4298	6500	-	-	-	SO:0001583	missense	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1567A>C	3.37:g.130449170T>G	ENSP00000349205:p.Asn523His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N523H	ENST00000356763.3	37	c.1567	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269117	0.40095	.	.	ENSG00000196455	ENST00000356763	T	0.45668	0.89	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.096778	0.64402	D	0.000001	T	0.23330	0.0564	N	0.04880	-0.145	0.48395	D	0.99964	B	0.02656	0.0	B	0.04013	0.001	T	0.06058	-1.0848	10	0.22706	T	0.39	-24.5591	14.7726	0.69691	0.0:0.0:0.0:1.0	.	523	Q99570	PI3R4_HUMAN	H	523	ENSP00000349205:N523H	ENSP00000349205:N523H	N	-	1	0	PIK3R4	131931860	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	4.857000	0.62939	1.955000	0.56771	0.383000	0.25322	AAT	PIK3R4	-	superfamily_ARM-type_fold	ENSG00000196455		0.318	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	128	0.00	0	T	NM_014602		130449170	130449170	-1	no_errors	ENST00000356763	ensembl	human	known	69_37n	missense	135	20.59	35	SNP	1.000	G
PIKFYVE	200576	genome.wustl.edu	37	2	209201654	209201654	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:209201654T>C	ENST00000264380.4	+	28	4769		c.e28+2			NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing						cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GAAAGCAAGGTATGAAATGTA	0.383																																						dbGAP											0													65.0	70.0	68.0					2																	209201654		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4611+2T>C	2.37:g.209201654T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Splice_Site	SNP	-	e27+2	ENST00000264380.4	37	c.4611+2	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059692	0.55325	.	.	ENSG00000115020	ENST00000264380	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5819	0.76448	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIKFYVE	208909899	1.000000	0.71417	0.977000	0.42913	0.505000	0.33919	6.735000	0.74806	2.164000	0.68074	0.533000	0.62120	.	PIKFYVE	-	-	ENSG00000115020		0.383	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	45	0.00	0	T	NM_015040	Intron	209201654	209201654	+1	no_errors	ENST00000264380	ensembl	human	known	69_37n	splice_site	39	37.10	23	SNP	1.000	C
PINK1	65018	genome.wustl.edu	37	1	20964396	20964396	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:20964396G>T	ENST00000321556.4	+	2	543	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	150					activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCTTGCAGGGCTTTCGGCTG	0.557																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	dbGAP											0													78.0	85.0	83.0					1																	20964396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.449G>T	1.37:g.20964396G>T	ENSP00000364204:p.Gly150Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6T9|Q8NBU3|Q96DE4	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.G150V	ENST00000321556.4	37	c.449	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590820	0.86851	.	.	ENSG00000158828	ENST00000321556	D	0.87650	-2.28	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92391	0.7585	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92586	0.6079	10	0.66056	D	0.02	1.4534	15.1357	0.72562	0.0:0.0:1.0:0.0	.	150	Q9BXM7	PINK1_HUMAN	V	150	ENSP00000364204:G150V	ENSP00000364204:G150V	G	+	2	0	PINK1	20836983	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.680000	0.68168	2.720000	0.93068	0.555000	0.69702	GGC	PINK1	-	superfamily_Kinase-like_dom	ENSG00000158828		0.557	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	81	0.00	0	G	NM_032409		20964396	20964396	+1	no_errors	ENST00000321556	ensembl	human	known	69_37n	missense	58	36.96	34	SNP	1.000	T
PITPNM2	57605	genome.wustl.edu	37	12	123471302	123471302	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:123471302G>A	ENST00000542749.1	-	22	3551	c.3488C>T	c.(3487-3489)gCg>gTg	p.A1163V	PITPNM2_ENST00000280562.5_Missense_Mutation_p.A1157V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A884V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A1163V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1163					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGCCAGCCACGCCACCACCCG	0.647																																						dbGAP											0													51.0	45.0	47.0					12																	123471302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3488C>T	12.37:g.123471302G>A	ENSP00000437611:p.Ala1163Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.A1163V	ENST00000542749.1	37	c.3488	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.474150	0.96291	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.02	5.02	0.67125	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.068033	0.64402	D	0.000017	D	0.87297	0.6142	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79784	0.942;0.993	D	0.88435	0.3038	10	0.72032	D	0.01	-16.2495	18.709	0.91649	0.0:0.0:1.0:0.0	.	1157;1163	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	V	1157;1163;884;1163	ENSP00000280562:A1157V;ENSP00000322218:A1163V;ENSP00000376223:A884V;ENSP00000437611:A1163V	ENSP00000280562:A1157V	A	-	2	0	PITPNM2	122037255	1.000000	0.71417	0.955000	0.39395	0.986000	0.74619	9.845000	0.99498	2.490000	0.84030	0.561000	0.74099	GCG	PITPNM2	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000090975		0.647	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	58	0.00	0	G	NM_020845		123471302	123471302	-1	no_errors	ENST00000320201	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	1.000	A
PITX2	5308	genome.wustl.edu	37	4	111542358	111542358	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:111542358T>C	ENST00000354925.2	-	6	2057	c.352A>G	c.(352-354)Atc>Gtc	p.I118V	PITX2_ENST00000355080.5_Missense_Mutation_p.I72V|PITX2_ENST00000394598.2_Missense_Mutation_p.I118V|PITX2_ENST00000557119.2_Missense_Mutation_p.I125V|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000306732.3_Missense_Mutation_p.I125V|PITX2_ENST00000556049.1_5'Flank	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	118					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II 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)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CACACAGCGATTTCTTCGCGT	0.617																																						dbGAP											0													41.0	42.0	42.0					4																	111542358		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.352A>G	4.37:g.111542358T>C	ENSP00000347004:p.Ile118Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.I125V	ENST00000354925.2	37	c.373	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	T	34	5.335607	0.95758	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000511990	D;D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92;-3.92	5.37	5.37	0.77165	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	L	0.45422	1.42	0.80722	D	1	D;P;D;P	0.71674	0.998;0.65;0.998;0.956	D;P;D;D	0.91635	0.998;0.658;0.999;0.978	D	0.97270	0.9910	10	0.87932	D	0	.	15.6714	0.77279	0.0:0.0:0.0:1.0	.	118;72;118;125	D6RFI4;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	V	125;118;72;118;118;72	ENSP00000304169:I125V;ENSP00000378097:I118V;ENSP00000347192:I72V;ENSP00000347004:I118V;ENSP00000421454:I118V;ENSP00000424142:I72V	ENSP00000304169:I125V	I	-	1	0	PITX2	111761807	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.076000	0.71267	2.161000	0.67846	0.533000	0.62120	ATC	PITX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_Homeodomain	ENSG00000164093		0.617	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	41	0.00	0	T			111542358	111542358	-1	no_errors	ENST00000306732	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	C
PIWIL2	55124	genome.wustl.edu	37	8	22210611	22210611	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:22210611T>C	ENST00000454009.2	+	21	3052	c.2543T>C	c.(2542-2544)gTg>gCg	p.V848A	PIWIL2_ENST00000521356.1_Missense_Mutation_p.V848A|PIWIL2_ENST00000356766.6_Missense_Mutation_p.V848A	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	848	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCAAGATGGTGGTGTTTGTA	0.413																																						dbGAP											0													177.0	177.0	177.0					8																	22210611		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2543T>C	8.37:g.22210611T>C	ENSP00000406956:p.Val848Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.V848A	ENST00000454009.2	37	c.2543	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	T	5.063	0.197320	0.09599	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13089	2.62;2.62;2.62	5.48	5.48	0.80851	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.060032	0.64402	D	0.000003	T	0.05914	0.0154	N	0.02247	-0.625	0.49798	D	0.999829	B;B	0.16603	0.018;0.018	B;B	0.15052	0.012;0.012	T	0.38542	-0.9656	10	0.12766	T	0.61	-13.6507	14.553	0.68081	0.0:0.0:0.0:1.0	.	848;848	E7ECA4;Q8TC59	.;PIWL2_HUMAN	A	848	ENSP00000349208:V848A;ENSP00000428267:V848A;ENSP00000406956:V848A	ENSP00000349208:V848A	V	+	2	0	PIWIL2	22266556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.778000	0.55371	2.082000	0.62665	0.454000	0.30748	GTG	PIWIL2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000197181		0.413	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	109	0.00	0	T			22210611	22210611	+1	no_errors	ENST00000356766	ensembl	human	known	69_37n	missense	139	29.08	57	SNP	1.000	C
PKD1L1	168507	genome.wustl.edu	37	7	47925473	47925473	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:47925473T>C	ENST00000289672.2	-	18	3066	c.3016A>G	c.(3016-3018)Agg>Ggg	p.R1006G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1006	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGGTTCCCCTTGGAGCTGAA	0.607																																						dbGAP											0													87.0	89.0	88.0					7																	47925473		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3016A>G	7.37:g.47925473T>C	ENSP00000289672:p.Arg1006Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.R1006G	ENST00000289672.2	37	c.3016	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	T	3.443	-0.113680	0.06881	.	.	ENSG00000158683	ENST00000289672	T	0.19669	2.13	4.97	-0.564	0.11774	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1939.410000	0.00166	N	0.000000	T	0.11836	0.0288	N	0.13043	0.29	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.15636	-1.0430	10	0.18276	T	0.48	-0.5334	3.9313	0.09286	0.1578:0.4326:0.0:0.4096	.	1006	Q8TDX9	PK1L1_HUMAN	G	1006	ENSP00000289672:R1006G	ENSP00000289672:R1006G	R	-	1	2	PKD1L1	47891998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.038000	0.03553	-0.313000	0.08728	-0.427000	0.05922	AGG	PKD1L1	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000158683		0.607	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	59	0.00	0	T	NM_138295		47925473	47925473	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	88	32.82	43	SNP	0.000	C
PKMYT1	9088	genome.wustl.edu	37	16	3025624	3025624	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:3025624A>G	ENST00000262300.8	-	4	1076	c.568T>C	c.(568-570)Tgc>Cgc	p.C190R	PKMYT1_ENST00000573944.1_Missense_Mutation_p.C181R|PKMYT1_ENST00000574385.1_Missense_Mutation_p.C181R|PKMYT1_ENST00000440027.2_Missense_Mutation_p.C190R|PKMYT1_ENST00000431515.2_Missense_Mutation_p.C190R|PKMYT1_ENST00000574730.1_Missense_Mutation_p.C121R	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTGGGCCCGCACAGCTCCGTC	0.706																																						dbGAP											0													27.0	27.0	27.0					16																	3025624		2195	4298	6493	-	-	-	SO:0001583	missense	0			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.568T>C	16.37:g.3025624A>G	ENSP00000262300:p.Cys190Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom	p.C190R	ENST00000262300.8	37	c.568	CCDS10486.1	16	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463786	0.84425	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.62666	-0.6806	10	0.87932	D	0	-17.4757	14.107	0.65096	1.0:0.0:0.0:0.0	.	181;121;190;190	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	R	190;190;190;190;181	ENSP00000392855:C190R;ENSP00000262300:C190R;ENSP00000397739:C190R;ENSP00000371675:C181R	ENSP00000262300:C190R	C	-	1	0	PKMYT1	2965625	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	8.614000	0.90917	2.209000	0.71365	0.533000	0.62120	TGC	PKMYT1	-	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_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom	ENSG00000127564		0.706	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	HGNC	protein_coding	OTTHUMT00000250963.2	17	0.00	0	A	NM_004203		3025624	3025624	-1	no_errors	ENST00000262300	ensembl	human	known	69_37n	missense	6	62.50	10	SNP	1.000	G
PLA2R1	22925	genome.wustl.edu	37	2	160901313	160901313	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:160901313A>G	ENST00000283243.7	-	2	671	c.465T>C	c.(463-465)ggT>ggC	p.G155G	PLA2R1_ENST00000392771.1_Silent_p.G155G	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	155	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAATGTCTCCACCACCTGACC	0.413																																						dbGAP											0													74.0	78.0	77.0					2																	160901313		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.465T>C	2.37:g.160901313A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	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.G155	ENST00000283243.7	37	c.465	CCDS33309.1	2																																																																																			PLA2R1	-	superfamily_Ricin_B_lectin	ENSG00000153246		0.413	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	34	0.00	0	A			160901313	160901313	-1	no_errors	ENST00000283243	ensembl	human	known	69_37n	silent	44	15.38	8	SNP	0.814	G
PLAA	9373	genome.wustl.edu	37	9	26917106	26917106	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:26917106T>C	ENST00000397292.3	-	10	1892	c.1475A>G	c.(1474-1476)gAt>gGt	p.D492G	PLAA_ENST00000520884.1_Missense_Mutation_p.D492G|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	492					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGTAAAAGGATCTGCTGTGGG	0.428																																					Melanoma(175;2670 2735 14091 35526)	dbGAP											0													128.0	118.0	121.0					9																	26917106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1475A>G	9.37:g.26917106T>C	ENSP00000380460:p.Asp492Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D492G	ENST00000397292.3	37	c.1475	CCDS35000.1	9	.	.	.	.	.	.	.	.	.	.	T	21.8	4.201229	0.79015	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.61980	0.06;0.28	5.93	5.93	0.95920	.	0.090165	0.85682	D	0.000000	T	0.80803	0.4693	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.965;0.989	T	0.82452	-0.0450	10	0.48119	T	0.1	-21.242	14.9582	0.71135	0.0:0.0:0.0:1.0	.	492;492	E5RIM3;Q9Y263	.;PLAP_HUMAN	G	492	ENSP00000380460:D492G;ENSP00000429372:D492G	ENSP00000380460:D492G	D	-	2	0	PLAA	26907106	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.316000	0.65815	2.270000	0.75569	0.482000	0.46254	GAT	PLAA	-	NULL	ENSG00000137055		0.428	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAA	HGNC	protein_coding	OTTHUMT00000051958.2	67	0.00	0	T	NM_001031689		26917106	26917106	-1	no_errors	ENST00000397292	ensembl	human	known	69_37n	missense	82	21.90	23	SNP	1.000	C
PLCD4	84812	genome.wustl.edu	37	2	219487380	219487380	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:219487380C>A	ENST00000450993.2	+	6	890	c.551C>A	c.(550-552)aCg>aAg	p.T184K	U3_ENST00000516996.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.T184K|PLCD4_ENST00000417849.1_Missense_Mutation_p.T184K	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	184	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGCAGACACGTCCCAGTCT	0.373																																						dbGAP											0													50.0	48.0	49.0					2																	219487380		1862	4097	5959	-	-	-	SO:0001583	missense	0			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.551C>A	2.37:g.219487380C>A	ENSP00000388631:p.Thr184Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FS8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.T184K	ENST00000450993.2	37	c.551	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	C	0.764	-0.768265	0.02974	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	T;T;T	0.74947	-0.89;-0.89;-0.89	4.66	-0.672	0.11377	EF-hand-like domain (1);	0.593063	0.17722	N	0.164216	T	0.33411	0.0862	N	0.01618	-0.8	0.26657	N	0.972	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36817	-0.9732	10	0.02654	T	1	.	2.3276	0.04227	0.5134:0.2571:0.1129:0.1165	.	184;184	B7Z5V4;Q9BRC7	.;PLCD4_HUMAN	K	184	ENSP00000388631:T184K;ENSP00000396942:T184K;ENSP00000396185:T184K	ENSP00000251959:T184K	T	+	2	0	PLCD4	219195624	0.998000	0.40836	0.006000	0.13384	0.729000	0.41735	1.748000	0.38308	0.034000	0.15491	0.655000	0.94253	ACG	PLCD4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000115556		0.373	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	55	0.00	0	C			219487380	219487380	+1	no_errors	ENST00000417849	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	0.744	A
PLCL2	23228	genome.wustl.edu	37	3	17131386	17131386	+	Missense_Mutation	SNP	C	C	G	rs141251542		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:17131386C>G	ENST00000418129.2	+	6	3453	c.2988C>G	c.(2986-2988)aaC>aaG	p.N996K	PLCL2_ENST00000432376.1_Missense_Mutation_p.N996K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1122					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAAAAGCAAACGATGAAACTG	0.423																																						dbGAP											0													62.0	59.0	60.0					3																	17131386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2988C>G	3.37:g.17131386C>G	ENSP00000409637:p.Asn996Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.N996K	ENST00000418129.2	37	c.2988	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	C	0.500	-0.871458	0.02570	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000432376	T;T	0.15834	2.39;2.39	5.91	-8.52	0.00920	.	0.603214	0.17702	N	0.164887	T	0.10465	0.0256	.	.	.	0.80722	D	1	B	0.20164	0.042	B	0.22386	0.039	T	0.06356	-1.0831	9	0.62326	D	0.03	.	8.7327	0.34510	0.0768:0.2049:0.0765:0.6419	.	1122	Q9UPR0	PLCL2_HUMAN	K	996;1123;996	ENSP00000409637:N996K;ENSP00000412836:N996K	ENSP00000285094:N1123K	N	+	3	2	PLCL2	17106390	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.226000	0.02953	-1.788000	0.01266	-1.735000	0.00691	AAC	PLCL2	-	NULL	ENSG00000154822		0.423	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	39	0.00	0	C			17131386	17131386	+1	no_errors	ENST00000418129	ensembl	human	known	69_37n	missense	52	29.73	22	SNP	0.000	G
PLCXD2	257068	genome.wustl.edu	37	3	111432906	111432906	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:111432906T>C	ENST00000477665.1	+	3	1121	c.797T>C	c.(796-798)aTc>aCc	p.I266T	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000393934.3_Missense_Mutation_p.I266T	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	266					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCCCAAGCGATCCTCACCCCC	0.567																																						dbGAP											0													49.0	50.0	50.0					3																	111432906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.797T>C	3.37:g.111432906T>C	ENSP00000420686:p.Ile266Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96N12	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.I266T	ENST00000477665.1	37	c.797	CCDS54619.1	3	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159245	0.78226	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.39	5.39	0.77823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.76926	0.4056	M	0.76328	2.33	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	T	0.76146	-0.3066	8	0.33141	T	0.24	-18.2549	13.3815	0.60770	0.0:0.0:0.0:1.0	.	266;266	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	T	266	.	ENSP00000377511:I266T	I	+	2	0	PLCXD2	112915596	1.000000	0.71417	0.595000	0.28798	0.984000	0.73092	7.584000	0.82572	2.034000	0.60081	0.460000	0.39030	ATC	PLCXD2	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000240891		0.567	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	HGNC	protein_coding	OTTHUMT00000354322.1	26	0.00	0	T	NM_153268		111432906	111432906	+1	no_errors	ENST00000477665	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	1.000	C
PLEKHD1	400224	genome.wustl.edu	37	14	69966879	69966879	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:69966879delA	ENST00000322564.7	+	2	409	c.197delA	c.(196-198)gaafs	p.E66fs		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	66	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(1)|endometrium(1)|kidney(2)	4						TCTGAGAGCGAAAAAAAGAGC	0.502																																						dbGAP											0													108.0	92.0	97.0					14																	69966879		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.197delA	14.37:g.69966879delA	ENSP00000317175:p.Glu66fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJC2	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K68fs	ENST00000322564.7	37	c.197	CCDS53903.1	14																																																																																			PLEKHD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000175985		0.502	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHD1	HGNC	protein_coding	OTTHUMT00000412451.2	112	0.00	0	A	NM_001161498		69966879	69966879	+1	no_errors	ENST00000322564	ensembl	human	known	69_37n	frame_shift_del	97	36.71	58	DEL	1.000	-
PLEKHG2	64857	genome.wustl.edu	37	19	39915425	39915425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:39915425G>T	ENST00000409794.3	+	19	4502	c.3652G>T	c.(3652-3654)Gga>Tga	p.G1218*	PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.G1159*|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.G1189*|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1218					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTGAGAGAGGAGGCTCTCT	0.527																																						dbGAP											0													191.0	188.0	189.0					19																	39915425		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3652G>T	19.37:g.39915425G>T	ENSP00000386733:p.Gly1218*	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1218*	ENST00000409794.3	37	c.3652	CCDS33022.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.016019|6.016019	0.97205|0.97205	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|.	.|.	.|.	4.21|4.21	3.17|3.17	0.36434|0.36434	.|.	.|0.627861	.|0.13231	.|N	.|0.403684	T|.	0.36138|.	0.0956|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999995|0.999995	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20042|.	-1.0287|.	4|.	.|.	.|.	.|.	.|.	8.7385|8.7385	0.34543|0.34543	0.1112:0.0:0.8888:0.0|0.1112:0.0:0.8888:0.0	.|.	.|.	.|.	.|.	D|X	1085|1218;1189;1159	.|.	.|.	E|G	+|+	3|1	2|0	PLEKHG2|PLEKHG2	44607265|44607265	0.030000|0.030000	0.19436|0.19436	0.002000|0.002000	0.10522|0.10522	0.144000|0.144000	0.21451|0.21451	0.516000|0.516000	0.22817|0.22817	1.088000|1.088000	0.41272|0.41272	0.561000|0.561000	0.74099|0.74099	GAG|GGA	PLEKHG2	-	NULL	ENSG00000090924		0.527	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	45	0.00	0	G	NM_022835		39915425	39915425	+1	no_errors	ENST00000409794	ensembl	human	known	69_37n	nonsense	56	30.86	25	SNP	0.003	T
PLOD3	8985	genome.wustl.edu	37	7	100856126	100856126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:100856126delC	ENST00000223127.3	-	8	1274	c.876delG	c.(874-876)gggfs	p.G292fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	292					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTCACCTGCCCCCCCGGGA	0.672																																						dbGAP											0													28.0	29.0	29.0					7																	100856126		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.876delG	7.37:g.100856126delC	ENSP00000223127:p.Gly292fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6W6|Q540C3	Frame_Shift_Del	DEL	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.Q293fs	ENST00000223127.3	37	c.876	CCDS5715.1	7																																																																																			PLOD3	-	NULL	ENSG00000106397		0.672	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1	28	0.00	0	C			100856126	100856126	-1	no_errors	ENST00000223127	ensembl	human	known	69_37n	frame_shift_del	24	20.00	6	DEL	1.000	-
PLXNA3	55558	genome.wustl.edu	37	X	153691781	153691781	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:153691781C>T	ENST00000369682.3	+	5	1540	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	455	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.P455P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					AGACAGTCCCCGTGGTGGATG	0.632																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											123.0	106.0	112.0					X																	153691781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1365C>T	X.37:g.153691781C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	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.P455	ENST00000369682.3	37	c.1365	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000130827		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	66	0.00	0	C	NM_017514		153691781	153691781	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	silent	71	15.48	13	SNP	0.023	T
PMFBP1	83449	genome.wustl.edu	37	16	72166652	72166652	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:72166652A>G	ENST00000237353.10	-	10	1703	c.1442T>C	c.(1441-1443)cTg>cCg	p.L481P	PMFBP1_ENST00000355636.6_Missense_Mutation_p.L336P|PMFBP1_ENST00000537465.1_Missense_Mutation_p.L481P	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	481						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCACCAGCCAGCCTCTCCTG	0.617																																						dbGAP											0													93.0	83.0	87.0					16																	72166652		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1442T>C	16.37:g.72166652A>G	ENSP00000237353:p.Leu481Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.L481P	ENST00000237353.10	37	c.1442	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229330	0.79688	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19806	2.12;2.6;2.59	5.48	1.87	0.25490	.	0.928471	0.08853	N	0.884103	T	0.21761	0.0524	L	0.32530	0.975	0.09310	N	0.999999	P;P;P	0.52061	0.95;0.95;0.95	P;P;P	0.53809	0.735;0.735;0.735	T	0.12578	-1.0542	10	0.39692	T	0.17	-0.3485	1.538	0.02549	0.458:0.147:0.0828:0.3122	.	481;481;481	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	P	481;481;336	ENSP00000443817:L481P;ENSP00000237353:L481P;ENSP00000347854:L336P	ENSP00000237353:L481P	L	-	2	0	PMFBP1	70724153	0.019000	0.18553	0.131000	0.22000	0.832000	0.47134	1.289000	0.33307	0.032000	0.15435	0.459000	0.35465	CTG	PMFBP1	-	NULL	ENSG00000118557		0.617	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	89	0.00	0	A	NM_031293		72166652	72166652	-1	no_errors	ENST00000537465	ensembl	human	known	69_37n	missense	66	17.07	14	SNP	0.007	G
POLA2	23649	genome.wustl.edu	37	11	65062088	65062088	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:65062088T>C	ENST00000265465.3	+	15	1956	c.1425T>C	c.(1423-1425)gaT>gaC	p.D475D	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Silent_p.D267D	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	475					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CATCCACAGATCTGCTTTTCC	0.517																																						dbGAP											0													106.0	100.0	102.0					11																	65062088		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1425T>C	11.37:g.65062088T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.I145T	ENST00000265465.3	37	c.434	CCDS8098.1	11	.	.	.	.	.	.	.	.	.	.	T	3.936	-0.015136	0.07681	.	.	ENSG00000014138	ENST00000525924	.	.	.	5.58	-9.37	0.00626	.	.	.	.	.	T	0.74481	0.3722	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77672	-0.2500	4	.	.	.	-24.8532	24.3536	0.99989	0.0:0.8773:0.0:0.1227	.	.	.	.	T	145	.	.	I	+	2	0	POLA2	64818664	0.956000	0.32656	0.058000	0.19502	0.225000	0.24961	0.096000	0.15147	-1.964000	0.01012	0.459000	0.35465	ATC	POLA2	-	pfam_DNA_pol_alpha/epsilon_bsu	ENSG00000014138		0.517	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	86	0.00	0	T	NM_002689		65062088	65062088	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525924	ensembl	human	putative	69_37n	missense	104	23.53	32	SNP	0.972	C
POLG	5428	genome.wustl.edu	37	15	89876333	89876333	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:89876333G>A	ENST00000268124.5	-	2	986	c.653C>T	c.(652-654)tCg>tTg	p.S218L	POLG_ENST00000442287.2_Missense_Mutation_p.S218L|RP11-217B1.2_ENST00000569473.1_RNA|POLG_ENST00000525806.1_5'UTR|RP11-217B1.2_ENST00000562356.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	218					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTACCAGGCCGAGGGGGATAT	0.597								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	dbGAP											0													31.0	29.0	29.0					15																	89876333		2195	4281	6476	-	-	-	SO:0001583	missense	0			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.653C>T	15.37:g.89876333G>A	ENSP00000268124:p.Ser218Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.S218L	ENST00000268124.5	37	c.653	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133836	0.37630	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.92099	-2.97;-2.97	4.56	2.4	0.29515	Ribonuclease H-like (1);	0.378744	0.26525	N	0.023890	T	0.81143	0.4761	L	0.38175	1.15	0.28364	N	0.920337	P	0.39094	0.659	B	0.22753	0.041	T	0.74293	-0.3712	10	0.39692	T	0.17	-8.1027	3.8152	0.08812	0.0957:0.1144:0.5317:0.2581	.	218	P54098	DPOG1_HUMAN	L	218	ENSP00000268124:S218L;ENSP00000399851:S218L	ENSP00000268124:S218L	S	-	2	0	POLG	87677337	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	1.405000	0.34635	0.915000	0.36847	0.561000	0.74099	TCG	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom	ENSG00000140521		0.597	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	8	0.00	0	G	NM_002693		89876333	89876333	-1	no_errors	ENST00000268124	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	0.878	A
POLH	5429	genome.wustl.edu	37	6	43581864	43581864	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:43581864A>G	ENST00000372236.4	+	11	2007	c.1712A>G	c.(1711-1713)tAt>tGt	p.Y571C	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.Y509C	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCAACAGAGTATCCAGGGTGT	0.448								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													dbGAP											0													78.0	82.0	81.0					6																	43581864		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1712A>G	6.37:g.43581864A>G	ENSP00000361310:p.Tyr571Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N	p.Y571C	ENST00000372236.4	37	c.1712	CCDS4902.1	6	.	.	.	.	.	.	.	.	.	.	A	3.114	-0.182100	0.06340	.	.	ENSG00000170734	ENST00000372236;ENST00000535400	T;T	0.58210	0.46;0.35	5.4	-5.03	0.02973	.	1.736940	0.02153	N	0.058152	T	0.10937	0.0267	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.06862	-1.0803	10	0.36615	T	0.2	-10.4095	0.985	0.01444	0.2162:0.3068:0.2699:0.2071	.	509;571	B4DG64;Q9Y253	.;POLH_HUMAN	C	571;509	ENSP00000361310:Y571C;ENSP00000442102:Y509C	ENSP00000361310:Y571C	Y	+	2	0	POLH	43689842	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.536000	0.06135	-0.574000	0.05990	0.459000	0.35465	TAT	POLH	-	pirsf_DNA_pol_eta	ENSG00000170734		0.448	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLH	HGNC	protein_coding	OTTHUMT00000040666.1	72	0.00	0	A	NM_006502		43581864	43581864	+1	no_errors	ENST00000372236	ensembl	human	known	69_37n	missense	64	43.86	50	SNP	0.000	G
POLQ	10721	genome.wustl.edu	37	3	121248613	121248613	+	Missense_Mutation	SNP	T	T	A	rs201384851		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:121248613T>A	ENST00000264233.5	-	7	1115	c.987A>T	c.(985-987)ttA>ttT	p.L329F	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	329	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTCATAACATAAACTAACAA	0.343								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													107.0	99.0	102.0					3																	121248613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.987A>T	3.37:g.121248613T>A	ENSP00000264233:p.Leu329Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.L329F	ENST00000264233.5	37	c.987	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	T	19.31	3.804027	0.70682	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.74209	-0.82	5.37	1.69	0.24217	Helicase, C-terminal (1);	0.231953	0.36066	N	0.002811	D	0.88651	0.6494	H	0.96691	3.865	0.51012	D	0.999905	D	0.89917	1.0	D	0.91635	0.999	D	0.87342	0.2332	10	0.87932	D	0	.	8.1682	0.31239	0.0:0.3915:0.0:0.6084	.	329	O75417	DPOLQ_HUMAN	F	329;464	ENSP00000264233:L329F	ENSP00000264233:L329F	L	-	3	2	POLQ	122731303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.643000	0.24750	0.334000	0.23590	0.533000	0.62120	TTA	POLQ	-	pfscan_Helicase_C	ENSG00000051341		0.343	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	61	0.00	0	T	NM_199420		121248613	121248613	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	missense	58	24.36	19	SNP	1.000	A
POM121	9883	genome.wustl.edu	37	7	72416772	72416772	+	Nonstop_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:72416772A>G	ENST00000434423.2	+	13	3749	c.3749A>G	c.(3748-3750)tAg>tGg	p.*1250W	POM121_ENST00000358357.3_Nonstop_Mutation_p.*985W|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000446813.1_Intron|POM121_ENST00000395270.1_Intron|POM121_ENST00000257622.4_Nonstop_Mutation_p.*985W			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	0					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)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CGCAAAAAGTAGCCTTTGTCC	0.592																																						dbGAP											0													27.0	28.0	28.0					7																	72416772		2203	4295	6498	-	-	-	SO:0001578	stop_lost	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3749A>G	7.37:g.72416772A>G	ENSP00000405562:p.*1250Trpext*?	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Nonstop_Mutation	SNP	NULL	p.*1250W	ENST00000434423.2	37	c.3749		7	.	.	.	.	.	.	.	.	.	.	A	12.54	1.968251	0.34754	.	.	ENSG00000196313	ENST00000257622;ENST00000358357;ENST00000434423	.	.	.	3.01	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3003	0.37842	1.0:0.0:0.0:0.0	.	.	.	.	W	985;985;1250	.	.	X	+	2	0	POM121	72054708	1.000000	0.71417	0.882000	0.34594	0.082000	0.17680	3.505000	0.53356	1.375000	0.46248	0.321000	0.21382	TAG	POM121	-	NULL	ENSG00000196313		0.592	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	139	0.00	0	A			72416772	72416772	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	nonstop	109	27.33	41	SNP	0.996	G
POM121C	100101267	genome.wustl.edu	37	7	75051330	75051331	+	Frame_Shift_Del	DEL	AG	AG	-	rs587726521		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:75051330_75051331delAG	ENST00000257665.5	-	11	2929_2930	c.2930_2931delCT	c.(2929-2931)tctfs	p.S977fs	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Frame_Shift_Del_p.S735fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	977	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCGGGGCTGCAGAGTTTCCAAA	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.2930_2931delCT	7.37:g.75051332_75051333delAG	ENSP00000257665:p.Ser977fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Del	DEL	NULL	p.S977fs	ENST00000257665.5	37	c.2931_2930		7																																																																																			POM121C	-	NULL	ENSG00000135213		0.663	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	POM121C	HGNC	protein_coding	OTTHUMT00000343919.2	36	0.00	0	AG	NM_001099415		75051330	75051331	-1	no_errors	ENST00000257665	ensembl	human	known	69_37n	frame_shift_del	30	28.57	12	DEL	0.741:0.876	-
POMZP3	22932	genome.wustl.edu	37	7	76247566	76247566	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:76247566T>C	ENST00000310842.4	-	4	963	c.279A>G	c.(277-279)cgA>cgG	p.R93R	AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Silent_p.R93R|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	93										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CTGGCCCGGGTCGAGGAACTT	0.502																																						dbGAP											0													20.0	22.0	21.0					7																	76247566		2151	4200	6351	-	-	-	SO:0001819	synonymous_variant	0			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.279A>G	7.37:g.76247566T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	NULL	p.D133G	ENST00000310842.4	37	c.398	CCDS43606.1	7	.	.	.	.	.	.	.	.	.	.	-	3.798	-0.042269	0.07452	.	.	ENSG00000146707	ENST00000441393	.	.	.	.	.	.	.	.	.	.	.	T	0.22820	0.0551	.	.	.	0.19300	N	0.999974	.	.	.	.	.	.	T	0.27226	-1.0080	2	.	.	.	.	.	.	.	.	.	.	.	A	18	.	.	T	-	1	0	POMZP3	76085502	0.896000	0.30565	0.232000	0.24009	0.209000	0.24338	0.056000	0.14256	-0.588000	0.05882	-0.582000	0.04134	ACC	POMZP3	-	NULL	ENSG00000146707		0.502	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMZP3	HGNC	protein_coding	OTTHUMT00000341775.1	132	0.00	0	T	NM_012230		76247566	76247566	-1	no_errors	ENST00000424818	ensembl	human	known	69_37n	missense	174	10.77	21	SNP	0.277	C
PPEF1	5475	genome.wustl.edu	37	X	18807363	18807363	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:18807363A>G	ENST00000361511.4	+	13	1531	c.1037A>G	c.(1036-1038)gAa>gGa	p.E346G	PPEF1_ENST00000544635.1_Missense_Mutation_p.E281G|PPEF1_ENST00000543630.1_Missense_Mutation_p.E346G|PPEF1_ENST00000349874.5_Missense_Mutation_p.E346G|PPEF1_ENST00000359763.6_Missense_Mutation_p.E293G	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	346	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCTCCTACTGAACACTTAACA	0.418																																						dbGAP											0													128.0	100.0	110.0					X																	18807363		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1037A>G	X.37:g.18807363A>G	ENSP00000354871:p.Glu346Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.E346G	ENST00000361511.4	37	c.1037	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516816	0.27123	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000544635	T;T;T;T;T	0.24908	3.17;3.02;3.47;1.83;3.16	4.14	2.94	0.34122	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.998250	0.08110	N	0.996358	T	0.33118	0.0852	L	0.33339	1.005	0.09310	N	1	D;P	0.60575	0.988;0.642	P;B	0.60236	0.871;0.182	T	0.15694	-1.0428	10	0.45353	T	0.12	-8.4331	5.9996	0.19513	0.7674:0.0:0.0:0.2326	.	346;346	O14829-5;O14829	.;PPE1_HUMAN	G	346;293;346;346;281	ENSP00000354871:E346G;ENSP00000352806:E293G;ENSP00000341892:E346G;ENSP00000437785:E346G;ENSP00000441289:E281G	ENSP00000341892:E346G	E	+	2	0	PPEF1	18717284	0.894000	0.30519	0.054000	0.19295	0.004000	0.04260	4.161000	0.58170	0.705000	0.31890	0.486000	0.48141	GAA	PPEF1	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000086717		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	55	0.00	0	A	NM_006240		18807363	18807363	+1	no_errors	ENST00000361511	ensembl	human	known	69_37n	missense	67	19.28	16	SNP	0.052	G
PPFIA3	8541	genome.wustl.edu	37	19	49644722	49644722	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:49644722T>C	ENST00000334186.4	+	19	2763	c.2414T>C	c.(2413-2415)cTa>cCa	p.L805P	PPFIA3_ENST00000602351.1_Missense_Mutation_p.L805P	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	805					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCTCTGGGGCTAGCCAAGCTG	0.542																																						dbGAP											0													91.0	56.0	67.0					19																	49644722		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2414T>C	19.37:g.49644722T>C	ENSP00000335614:p.Leu805Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L805P	ENST00000334186.4	37	c.2414	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629364	0.46944	.	.	ENSG00000177380	ENST00000334186	T	0.21031	2.03	4.91	4.91	0.64330	.	0.000000	0.37437	N	0.002082	T	0.24198	0.0586	L	0.58428	1.81	0.80722	D	1	B;P	0.36330	0.016;0.548	B;B	0.37943	0.029;0.261	T	0.02781	-1.1111	10	0.32370	T	0.25	-2.3261	13.821	0.63320	0.0:0.0:0.0:1.0	.	805;805	O75145-2;O75145	.;LIPA3_HUMAN	P	805	ENSP00000335614:L805P	ENSP00000335614:L805P	L	+	2	0	PPFIA3	54336534	0.753000	0.28349	0.997000	0.53966	0.989000	0.77384	4.732000	0.62029	1.979000	0.57680	0.460000	0.39030	CTA	PPFIA3	-	NULL	ENSG00000177380		0.542	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	48	0.00	0	T	NM_003660		49644722	49644722	+1	no_errors	ENST00000334186	ensembl	human	known	69_37n	missense	22	46.34	19	SNP	0.969	C
PPIAL4G	644591	genome.wustl.edu	37	1	143767699	143767699	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:143767699A>G	ENST00000419275.1	-	1	182	c.150T>C	c.(148-150)ggT>ggC	p.G50G		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	50	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GAAAGCAGGAACCCTTATAAC	0.463																																						dbGAP											0													58.0	59.0	59.0					1																	143767699		1531	3513	5044	-	-	-	SO:0001819	synonymous_variant	0				CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.150T>C	1.37:g.143767699A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L431	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G50	ENST00000419275.1	37	c.150	CCDS41375.1	1																																																																																			PPIAL4G	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000236334		0.463	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4G	HGNC	protein_coding	OTTHUMT00000037969.1	198	0.00	0	A	NM_001123068		143767699	143767699	-1	no_errors	ENST00000419275	ensembl	human	known	69_37n	silent	347	16.31	68	SNP	1.000	G
PPOX	5498	genome.wustl.edu	37	1	161137815	161137815	+	Silent	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:161137815C>A	ENST00000367999.4	+	5	635	c.369C>A	c.(367-369)tcC>tcA	p.S123S	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Silent_p.S123S|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	123					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCCCTTCTCCAAACCTCTGT	0.622																																						dbGAP											0													68.0	73.0	72.0					1																	161137815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.369C>A	1.37:g.161137815C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG0|Q5VTW8	Silent	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.S123	ENST00000367999.4	37	c.369	CCDS1221.1	1																																																																																			PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.622	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	51	0.00	0	C	NM_000309		161137815	161137815	+1	no_errors	ENST00000352210	ensembl	human	known	69_37n	silent	47	20.34	12	SNP	1.000	A
PPP1R12B	4660	genome.wustl.edu	37	1	202398059	202398059	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:202398059T>C	ENST00000608999.1	+	6	1074		c.e6+2		PPP1R12B_ENST00000480184.1_Splice_Site|PPP1R12B_ENST00000356764.2_Splice_Site|PPP1R12B_ENST00000336894.4_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGAATGTGGTGAGTTTCTGA	0.448																																						dbGAP											0													89.0	84.0	86.0					1																	202398059		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.921+2T>C	1.37:g.202398059T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Splice_Site	SNP	-	e6+2	ENST00000608999.1	37	c.921+2	CCDS1426.1	1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639054	0.67130	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764;ENST00000466968	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0981	0.65037	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R12B	200664682	1.000000	0.71417	0.998000	0.56505	0.732000	0.41865	7.836000	0.86788	2.064000	0.61679	0.477000	0.44152	.	PPP1R12B	-	-	ENSG00000077157		0.448	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	122	0.00	0	T	NM_032105	Intron	202398059	202398059	+1	no_errors	ENST00000336894	ensembl	human	known	69_37n	splice_site	154	17.46	33	SNP	1.000	C
PPP1R12B	4660	genome.wustl.edu	37	1	202407190	202407190	+	Intron	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:202407190delT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000480184.1_Frame_Shift_Del_p.V499fs|PPP1R12B_ENST00000356764.2_3'UTR|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAAGGCAGTTTTTTTTTTC	0.388																																						dbGAP											0									,,	92,128,3982		2,0,88,2,124,1885	28.0	30.0	30.0		,,	1.9	0.0	1		31	174,230,7838		0,1,173,13,203,3731	no	intron,utr-3,codingComplex	PPP1R12B	NM_002481.3,NM_001167858.1,NM_001167857.1	,,	2,1,261,15,327,5616	A1A1,A1A2,A1R,A2A2,A2R,RR		4.9017,5.2356,5.0145	,,	,,	202407190	266,358,11820	2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+38T>-	1.37:g.202407190delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F502fs	ENST00000608999.1	37	c.1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	25	0.00	0	T	NM_032105		202407190	202407190	+1	no_errors	ENST00000480184	ensembl	human	novel	69_37n	frame_shift_del	38	17.39	8	DEL	0.041	-
PRKDC	5591	genome.wustl.edu	37	8	48713538	48713538	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:48713538T>C	ENST00000314191.2	-	72	9985	c.9929A>G	c.(9928-9930)aAc>aGc	p.N3310S	PRKDC_ENST00000338368.3_Missense_Mutation_p.N3310S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3311	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCTTGACACGTTGTTCTCATC	0.343								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													65.0	58.0	60.0					8																	48713538		1855	4104	5959	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9929A>G	8.37:g.48713538T>C	ENSP00000313420:p.Asn3310Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,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.N3310S	ENST00000314191.2	37	c.9929		8	.	.	.	.	.	.	.	.	.	.	T	0.084	-1.178134	0.01633	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.67171	-0.25;-0.25	2.21	-4.41	0.03590	PIK-related kinase (1);PIK-related kinase, FAT (1);	1.055640	0.07292	N	0.872672	T	0.27559	0.0677	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.005	T	0.18650	-1.0330	10	0.08599	T	0.76	.	0.3696	0.00377	0.2041:0.2904:0.2075:0.298	.	3310;3311	E7EUY0;P78527	.;PRKDC_HUMAN	S	3310	ENSP00000313420:N3310S;ENSP00000345182:N3310S	ENSP00000313420:N3310S	N	-	2	0	PRKDC	48876091	0.004000	0.15560	0.022000	0.16811	0.219000	0.24729	-0.160000	0.10041	-1.015000	0.03375	-0.490000	0.04691	AAC	PRKDC	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000253729		0.343	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		63	0.00	0	T	NM_001081640		48713538	48713538	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	87	28.69	35	SNP	0.003	C
PRKG1	5592	genome.wustl.edu	37	10	53227498	53227498	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:53227498T>C	ENST00000401604.2	+	3	643	c.449T>C	c.(448-450)gTt>gCt	p.V150A	PRKG1_ENST00000373985.1_Missense_Mutation_p.V138A|PRKG1_ENST00000373980.4_Missense_Mutation_p.V165A			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	150	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AAGGTTGAAGTTACAAAAGAA	0.388																																						dbGAP											0													150.0	136.0	141.0					10																	53227498		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.449T>C	10.37:g.53227498T>C	ENSP00000384200:p.Val150Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	pirsf_cGMP-dependent_protein_kinase,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,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom	p.V165A	ENST00000401604.2	37	c.494	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782155	0.90282	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.9	5.9	0.94986	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.076771	0.52532	D	0.000080	D	0.96839	0.8968	M	0.74546	2.27	0.80722	D	1	P;D;D	0.89917	0.856;1.0;0.994	P;D;D	0.77004	0.818;0.989;0.989	D	0.97292	0.9925	10	0.87932	D	0	-13.5342	14.2838	0.66232	0.0:0.0:0.0:1.0	.	150;165;150	B4DT93;Q13976-2;Q13976	.;.;KGP1_HUMAN	A	150;138;165;23	ENSP00000384200:V150A;ENSP00000363097:V138A;ENSP00000363092:V165A;ENSP00000363087:V23A	ENSP00000363087:V23A	V	+	2	0	PRKG1	52897504	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.691000	0.84191	2.248000	0.74166	0.460000	0.39030	GTT	PRKG1	-	pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000185532		0.388	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		124	0.00	0	T			53227498	53227498	+1	no_errors	ENST00000373980	ensembl	human	known	69_37n	missense	120	33.88	62	SNP	1.000	C
PRPF38A	84950	genome.wustl.edu	37	1	52878256	52878256	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:52878256A>G	ENST00000257181.9	+	5	755	c.569A>G	c.(568-570)gAt>gGt	p.D190G	PRPF38A_ENST00000474048.1_3'UTR|snoU13_ENST00000458879.1_RNA	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	190					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GACATGGATGATGTGGAGTCC	0.463																																						dbGAP											0													94.0	102.0	99.0					1																	52878256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.569A>G	1.37:g.52878256A>G	ENSP00000257181:p.Asp190Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JW1|Q9BVZ8	Missense_Mutation	SNP	pfam_PRP38	p.D190G	ENST00000257181.9	37	c.569	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714605	0.89112	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.73	5.73	0.89815	Pre-mRNA-splicing factor 38, C-terminal (1);	0.042462	0.85682	D	0.000000	T	0.67429	0.2892	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	D	0.63113	0.911	T	0.67019	-0.5776	9	0.44086	T	0.13	-25.1168	16.0337	0.80603	1.0:0.0:0.0:0.0	.	190	Q8NAV1	PR38A_HUMAN	G	190	.	ENSP00000257181:D190G	D	+	2	0	PRPF38A	52650844	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	8.579000	0.90781	2.189000	0.69895	0.528000	0.53228	GAT	PRPF38A	-	NULL	ENSG00000134748		0.463	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	110	0.90	1	A	NM_032864		52878256	52878256	+1	no_errors	ENST00000257181	ensembl	human	known	69_37n	missense	130	30.11	56	SNP	0.998	G
PRPF3	9129	genome.wustl.edu	37	1	150310652	150310652	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:150310652T>A	ENST00000324862.6	+	8	1217	c.1052T>A	c.(1051-1053)cTa>cAa	p.L351Q	PRPF3_ENST00000543398.1_Missense_Mutation_p.L216Q|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.L302Q	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	351					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGGAGAAGCTACAGGCAGAG	0.378																																					Ovarian(168;1070 2670 5178 20729)	dbGAP											0													107.0	100.0	103.0					1																	150310652		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1052T>A	1.37:g.150310652T>A	ENSP00000315379:p.Leu351Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI	p.L351Q	ENST00000324862.6	37	c.1052	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621065	0.87460	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	D;D;D	0.86097	-2.07;-2.07;-2.07	5.94	5.94	0.96194	Pre-mRNA-splicing factor 3 (1);	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92578	0.6072	10	0.54805	T	0.06	-7.1391	16.3939	0.83550	0.0:0.0:0.0:1.0	.	302;351	E7EVD1;O43395	.;PRPF3_HUMAN	Q	351;302;216	ENSP00000315379:L351Q;ENSP00000387844:L302Q;ENSP00000445421:L216Q	ENSP00000315379:L351Q	L	+	2	0	PRPF3	148577276	1.000000	0.71417	0.972000	0.41901	0.828000	0.46876	7.735000	0.84939	2.276000	0.75962	0.455000	0.32223	CTA	PRPF3	-	pfam_Pre-mRNA_splic_Prp3	ENSG00000117360		0.378	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	59	0.00	0	T	NM_004698		150310652	150310652	+1	no_errors	ENST00000324862	ensembl	human	known	69_37n	missense	102	14.29	17	SNP	1.000	A
ZNF512B	57473	genome.wustl.edu	37	20	62659902	62659902	+	Intron	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:62659902T>A	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.L764Q|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCAAGGCGCTGCAGGAGTGC	0.652																																						dbGAP											0													60.0	55.0	57.0					20																	62659902		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+20155A>T	20.37:g.62659902T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.L804Q	ENST00000450537.1	37	c.2411	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	T	28.9	4.961765	0.92791	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.38722	1.12;1.12	5.51	5.51	0.81932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	T	0.71668	0.3367	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.78314	0.991;0.954	T	0.79152	-0.1921	10	0.72032	D	0.01	-16.7682	15.6245	0.76845	0.0:0.0:0.0:1.0	.	764;804	O94906-2;O94906	.;PRP6_HUMAN	Q	804;764	ENSP00000266079:L804Q;ENSP00000446216:L764Q	ENSP00000266079:L804Q	L	+	2	0	PRPF6	62130346	1.000000	0.71417	0.985000	0.45067	0.968000	0.65278	7.969000	0.87988	2.095000	0.63458	0.528000	0.53228	CTG	PRPF6	-	smart_HAT,pfscan_TPR-contain_dom	ENSG00000101161		0.652	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	41	0.00	0	T	NM_020713		62659902	62659902	+1	no_errors	ENST00000266079	ensembl	human	known	69_37n	missense	35	25.53	12	SNP	1.000	A
PRPSAP1	5635	genome.wustl.edu	37	17	74328411	74328411	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:74328411C>T	ENST00000446526.3	-	4	841	c.396G>A	c.(394-396)aaG>aaA	p.K132K	PRPSAP1_ENST00000324684.4_Silent_p.K29K	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	103					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TCTTGCTCTGCTTGCTGTAGG	0.552																																						dbGAP											0													196.0	174.0	181.0					17																	74328411		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.396G>A	17.37:g.74328411C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6M4|Q96H06	Silent	SNP	tigrfam_Rib-P_diPkinase	p.K132	ENST00000446526.3	37	c.396	CCDS11743.2	17																																																																																			PRPSAP1	-	tigrfam_Rib-P_diPkinase	ENSG00000161542		0.552	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP1	HGNC	protein_coding	OTTHUMT00000342480.2	162	0.00	0	C	NM_002766		74328411	74328411	-1	no_errors	ENST00000446526	ensembl	human	known	69_37n	silent	262	12.33	37	SNP	0.997	T
PRRC2B	84726	genome.wustl.edu	37	9	134321980	134321980	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:134321980T>C	ENST00000357304.4	+	6	861	c.806T>C	c.(805-807)aTg>aCg	p.M269T	PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Missense_Mutation_p.M269T|PRRC2B_ENST00000405995.1_Missense_Mutation_p.M269T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	269							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCACAGTTCATGGGAAATGTA	0.522																																						dbGAP											0													99.0	93.0	95.0					9																	134321980		1921	4129	6050	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.806T>C	9.37:g.134321980T>C	ENSP00000349856:p.Met269Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.M269T	ENST00000357304.4	37	c.806	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259868	0.39995	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.02552	4.25;4.56;4.25	5.09	3.96	0.45880	.	0.157768	0.29480	U	0.012035	T	0.02767	0.0083	L	0.36672	1.1	0.80722	D	1	B	0.23937	0.094	B	0.22386	0.039	T	0.49331	-0.8951	10	0.13853	T	0.58	-4.2953	10.1126	0.42572	0.0:0.0785:0.0:0.9215	.	269	Q5JSZ5	PRC2B_HUMAN	T	269	ENSP00000384606:M269T;ENSP00000349856:M269T;ENSP00000398853:M269T	ENSP00000349856:M269T	M	+	2	0	PRRC2B	133311801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.518000	0.45537	1.071000	0.40834	0.533000	0.62120	ATG	PRRC2B	-	NULL	ENSG00000130723		0.522	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		101	0.00	0	T			134321980	134321980	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	145	14.12	24	SNP	1.000	C
PRSS53	339105	genome.wustl.edu	37	16	31096162	31096162	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:31096162A>G	ENST00000280606.6	-	8	1371	c.1218T>C	c.(1216-1218)ccT>ccC	p.P406P		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	406	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						GGTGGTGGTCAGGATAGGGCA	0.697																																						dbGAP											0													7.0	9.0	9.0					16																	31096162		1979	4108	6087	-	-	-	SO:0001819	synonymous_variant	0				CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.1218T>C	16.37:g.31096162A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P406	ENST00000280606.6	37	c.1218	CCDS42153.1	16																																																																																			PRSS53	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000151006		0.697	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	HGNC	protein_coding	OTTHUMT00000108580.4	28	0.00	0	A	NM_001081268		31096162	31096162	-1	no_errors	ENST00000280606	ensembl	human	known	69_37n	silent	11	35.29	6	SNP	0.015	G
PRX	57716	genome.wustl.edu	37	19	40902398	40902399	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:40902398_40902399insT	ENST00000324001.7	-	7	2130_2131	c.1860_1861insA	c.(1858-1863)gaagtgfs	p.V621fs	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	621	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAAGCTGCACTTCTGGGAGGT	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1861dupA	19.37:g.40902400_40902400dupT	ENSP00000326018:p.Val621fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXL9|Q9HCF2	Frame_Shift_Ins	INS	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V620fs	ENST00000324001.7	37	c.1861_1860	CCDS33028.1	19																																																																																			PRX	-	NULL	ENSG00000105227		0.559	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	60	0.00	0	-	NM_020956		40902398	40902399	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	frame_shift_ins	83	17.82	18	INS	0.018:0.001	T
PSG3	5671	genome.wustl.edu	37	19	43233410	43233410	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:43233410C>G	ENST00000327495.5	-	5	1292	c.1108G>C	c.(1108-1110)Ggg>Cgg	p.G370R	PSG3_ENST00000595140.1_Missense_Mutation_p.G370R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	370	Ig-like C2-type 3.			Missing (in Ref. 9). {ECO:0000305}.	defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.G370R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGAAACTTCCCATTAATTGTC	0.443																																						dbGAP											1	Substitution - Missense(1)	lung(1)											174.0	185.0	181.0					19																	43233410		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1108G>C	19.37:g.43233410C>G	ENSP00000332215:p.Gly370Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G370R	ENST00000327495.5	37	c.1108	CCDS12611.1	19	.	.	.	.	.	.	.	.	.	.	N	9.615	1.132417	0.21041	.	.	ENSG00000221826	ENST00000327495	T	0.52754	0.65	1.33	1.33	0.21861	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61739	0.2371	M	0.83774	2.66	0.09310	N	1	B	0.28552	0.215	P	0.48227	0.571	T	0.60979	-0.7155	9	0.48119	T	0.1	.	5.9829	0.19417	0.0:1.0:0.0:0.0	.	370	Q16557	PSG3_HUMAN	R	370	ENSP00000332215:G370R	ENSP00000332215:G370R	G	-	1	0	PSG3	47925250	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-0.129000	0.10515	0.690000	0.31570	0.393000	0.25936	GGG	PSG3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000221826		0.443	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	HGNC	protein_coding	OTTHUMT00000321423.2	215	0.00	0	C	NM_021016		43233410	43233410	-1	no_errors	ENST00000327495	ensembl	human	known	69_37n	missense	233	28.53	93	SNP	0.019	G
PSMD1	5707	genome.wustl.edu	37	2	231943447	231943447	+	Silent	SNP	T	T	C	rs180963792		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:231943447T>C	ENST00000308696.6	+	10	1308	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	PSMD1_ENST00000409643.1_Silent_p.S382S|PSMD1_ENST00000373635.4_Silent_p.S382S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	382					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)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|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)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.S382S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGACAACCAGTGACCAGTTTC	0.333																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											126.0	122.0	124.0					2																	231943447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1146T>C	2.37:g.231943447T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.S382	ENST00000308696.6	37	c.1146	CCDS2482.1	2																																																																																			PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.333	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	101	0.00	0	T			231943447	231943447	+1	no_errors	ENST00000308696	ensembl	human	known	69_37n	silent	140	28.93	57	SNP	1.000	C
PSMG2	56984	genome.wustl.edu	37	18	12718542	12718542	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:12718542A>G	ENST00000317615.6	+	4	997	c.315A>G	c.(313-315)aaA>aaG	p.K105K	PSMG2_ENST00000585331.2_Silent_p.K74K|PSMG2_ENST00000590217.1_Silent_p.K105K	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2											lung(1)|prostate(2)|skin(1)	4						TCTGTGAAAAACTGCTTTCCT	0.363																																						dbGAP											0													129.0	118.0	122.0					18																	12718542		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"""hepatocellular carcinoma susceptibility protein"", ""CD40 ligand-activated specific transcript 3"""	609702	"""tumor necrosis factor superfamily, member 5-induced protein 1"""	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.315A>G	18.37:g.12718542A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk	p.K105	ENST00000317615.6	37	c.315	CCDS11862.1	18																																																																																			PSMG2	-	pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk	ENSG00000128789		0.363	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG2	HGNC	protein_coding	OTTHUMT00000254615.1	144	0.00	0	A	NM_020232		12718542	12718542	+1	no_errors	ENST00000317615	ensembl	human	known	69_37n	silent	226	16.61	45	SNP	0.894	G
PTAR1	375743	genome.wustl.edu	37	9	72333548	72333548	+	Intron	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:72333548T>C	ENST00000340434.4	-	7	986				PTAR1_ENST00000377200.5_Missense_Mutation_p.M255V	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1						protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AACTGGGTCATGCTGTGAGGA	0.483																																						dbGAP											0													62.0	61.0	62.0					9																	72333548		1921	4137	6058	-	-	-	SO:0001627	intron_variant	0			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.982+17A>G	9.37:g.72333548T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.M255V	ENST00000340434.4	37	c.763	CCDS47978.1	9	.	.	.	.	.	.	.	.	.	.	T	1.249	-0.619091	0.03663	.	.	ENSG00000188647	ENST00000377200	T	0.39592	1.07	6.02	-6.2	0.02072	.	1.149780	0.06318	N	0.703870	T	0.15782	0.0380	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16394	-1.0404	7	0.16896	T	0.51	.	1.0602	0.01599	0.1682:0.2161:0.2694:0.3463	.	.	.	.	V	255	ENSP00000366405:M255V	ENSP00000366405:M255V	M	-	1	0	PTAR1	71523368	0.000000	0.05858	0.000000	0.03702	0.949000	0.60115	-0.579000	0.05834	-0.818000	0.04329	0.533000	0.62120	ATG	PTAR1	-	NULL	ENSG00000188647		0.483	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	61	0.00	0	T	NM_001099666		72333548	72333548	-1	no_errors	ENST00000377200	ensembl	human	novel	69_37n	missense	72	10.00	8	SNP	0.000	C
PTBP1	5725	genome.wustl.edu	37	19	804187	804187	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:804187G>T	ENST00000349038.4	+	4	340	c.267G>T	c.(265-267)ctG>ctT	p.L89L	PTBP1_ENST00000356948.6_Silent_p.L89L|PTBP1_ENST00000394601.4_Silent_p.L89L|PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	89	RRM 1. {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)		CCAACCTCCTGATGCTGAAGG	0.637																																						dbGAP											0													73.0	65.0	68.0					19																	804187		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.267G>T	19.37:g.804187G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUQ0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L89	ENST00000349038.4	37	c.267	CCDS32859.1	19																																																																																			PTBP1	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000011304		0.637	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	50	0.00	0	G			804187	804187	+1	no_errors	ENST00000356948	ensembl	human	known	69_37n	silent	57	13.64	9	SNP	0.998	T
PTCRA	171558	genome.wustl.edu	37	6	42890941	42890941	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:42890941T>C	ENST00000304672.1	+	2	316	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P	PTCRA_ENST00000441198.1_Missense_Mutation_p.S54P|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	79					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTATGGCCCTTCCCCAGCAAC	0.622																																						dbGAP											0													175.0	138.0	151.0					6																	42890941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.235T>C	6.37:g.42890941T>C	ENSP00000304447:p.Ser79Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TFZ7	Missense_Mutation	SNP	NULL	p.S79P	ENST00000304672.1	37	c.235	CCDS4874.1	6	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460765	0.63513	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.56275	0.47;0.47	5.84	3.26	0.37387	Immunoglobulin-like fold (1);	0.151139	0.31450	N	0.007629	T	0.43233	0.1238	L	0.36672	1.1	0.09310	N	0.999998	D;D	0.89917	0.999;1.0	D;D	0.76071	0.974;0.987	T	0.25779	-1.0122	10	0.72032	D	0.01	-19.3618	5.9786	0.19395	0.1653:0.0:0.1727:0.662	.	54;79	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	P	79;54	ENSP00000304447:S79P;ENSP00000409550:S54P	ENSP00000304447:S79P	S	+	1	0	PTCRA	42998919	0.437000	0.25593	0.185000	0.23176	0.927000	0.56198	1.881000	0.39638	0.995000	0.38917	0.528000	0.53228	TCC	PTCRA	-	NULL	ENSG00000171611		0.622	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCRA	HGNC	protein_coding	OTTHUMT00000040565.2	74	0.00	0	T	NM_138296		42890941	42890941	+1	no_errors	ENST00000304672	ensembl	human	known	69_37n	missense	140	15.15	25	SNP	0.077	C
PTDSS1	9791	genome.wustl.edu	37	8	97321789	97321789	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:97321789T>C	ENST00000517309.1	+	9	1338	c.1012T>C	c.(1012-1014)Tac>Cac	p.Y338H	Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y192H|PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y135H	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	338					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TTTCAGACAGTACTACGCTTA	0.423																																						dbGAP											0													95.0	85.0	88.0					8																	97321789		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1012T>C	8.37:g.97321789T>C	ENSP00000430548:p.Tyr338His	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RFC5|Q9BUQ5	Missense_Mutation	SNP	pfam_PSS	p.Y338H	ENST00000517309.1	37	c.1012	CCDS6271.1	8	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864968	0.91511	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.52526	0.68;0.71;0.66	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.86651	2.83	0.80722	D	1	D	0.56035	0.974	D	0.64877	0.93	T	0.75391	-0.3334	10	0.52906	T	0.07	-24.5778	14.7098	0.69222	0.0:0.0:0.0:1.0	.	338	P48651	PTSS1_HUMAN	H	338;192;135	ENSP00000430548:Y338H;ENSP00000401248:Y192H;ENSP00000430928:Y135H	ENSP00000401248:Y192H	Y	+	1	0	PTDSS1	97390965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.015000	0.88690	2.205000	0.71048	0.528000	0.53228	TAC	PTDSS1	-	pfam_PSS	ENSG00000156471		0.423	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS1	HGNC	protein_coding	OTTHUMT00000379743.2	90	0.00	0	T			97321789	97321789	+1	no_errors	ENST00000517309	ensembl	human	known	69_37n	missense	116	26.11	41	SNP	1.000	C
PTGS1	5742	genome.wustl.edu	37	9	125154527	125154527	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:125154527T>A	ENST00000362012.2	+	11	1509	c.1504T>A	c.(1504-1506)Ttc>Atc	p.F502I	PTGS1_ENST00000540753.1_Missense_Mutation_p.F440I|PTGS1_ENST00000223423.4_Missense_Mutation_p.F465I|PTGS1_ENST00000373698.5_Missense_Mutation_p.F393I	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	502					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGCGTTGGAGTTCTACCCTGG	0.478																																						dbGAP											0													67.0	70.0	69.0					9																	125154527		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1504T>A	9.37:g.125154527T>A	ENSP00000354612:p.Phe502Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.F502I	ENST00000362012.2	37	c.1504	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279547	0.59758	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.65	4.5	0.54988	.	0.043472	0.85682	D	0.000000	T	0.81113	0.4755	M	0.84082	2.675	0.52501	D	0.99995	D;P;P	0.63046	0.992;0.95;0.907	D;P;P	0.70016	0.967;0.885;0.767	T	0.82600	-0.0377	10	0.87932	D	0	-25.4883	11.1191	0.48277	0.0:0.0727:0.0:0.9273	.	440;502;465	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	I	440;502;465;393	ENSP00000437709:F440I;ENSP00000354612:F502I;ENSP00000223423:F465I;ENSP00000362802:F393I	ENSP00000223423:F465I	F	+	1	0	PTGS1	124194348	1.000000	0.71417	0.998000	0.56505	0.358000	0.29455	2.872000	0.48467	0.946000	0.37632	0.533000	0.62120	TTC	PTGS1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	ENSG00000095303		0.478	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	HGNC	protein_coding	OTTHUMT00000053933.1	32	0.00	0	T			125154527	125154527	+1	no_errors	ENST00000362012	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	1.000	A
PTGES2	80142	genome.wustl.edu	37	9	130883442	130883442	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:130883442C>T	ENST00000338961.6	-	7	1860	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	PTGES2_ENST00000277462.5_Silent_p.E181E|PTGES2_ENST00000483625.1_5'Flank|RP11-395P17.3_ENST00000418747.1_RNA|RP11-395P17.3_ENST00000536815.1_RNA	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	372	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						CTGGGGAGGCCTCGGTGATGG	0.682																																						dbGAP											0													53.0	44.0	47.0					9																	130883442		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.1116G>A	9.37:g.130883442C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Silent	SNP	pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.E372	ENST00000338961.6	37	c.1116	CCDS6891.1	9																																																																																			PTGES2	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000148334		0.682	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES2	HGNC	protein_coding	OTTHUMT00000054339.1	31	0.00	0	C			130883442	130883442	-1	no_errors	ENST00000338961	ensembl	human	known	69_37n	silent	26	40.91	18	SNP	0.003	T
PTK2	5747	genome.wustl.edu	37	8	141753416	141753416	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:141753416G>A	ENST00000522684.1	-	20	1877	c.1648C>T	c.(1648-1650)Cgg>Tgg	p.R550W	PTK2_ENST00000520151.1_3'UTR|PTK2_ENST00000535192.1_Missense_Mutation_p.R550W|PTK2_ENST00000517887.1_Missense_Mutation_p.R594W|PTK2_ENST00000538769.1_Missense_Mutation_p.R218W|PTK2_ENST00000395218.2_Missense_Mutation_p.R550W|PTK2_ENST00000521059.1_Missense_Mutation_p.R550W|PTK2_ENST00000340930.3_Missense_Mutation_p.R550W|PTK2_ENST00000519465.1_Missense_Mutation_p.R178W|PTK2_ENST00000519419.1_Missense_Mutation_p.R594W	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	550	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGAACATTCCGAGCAGCAATG	0.333																																						dbGAP											0													100.0	97.0	98.0					8																	141753416		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1648C>T	8.37:g.141753416G>A	ENSP00000429911:p.Arg550Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R550W	ENST00000522684.1	37	c.1648	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.042860|4.042860	0.75732|0.75732	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	D;D;D;D;D;D;D;D;D;D;D|.	0.87966|.	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32|.	5.2|5.2	4.24|4.24	0.50183|0.50183	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87430|0.87430	0.6175|0.6175	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0|.	D|D	0.90300|0.90300	0.4329|0.4329	10|5	0.87932|.	D|.	0|.	.|.	10.5912|10.5912	0.45310|0.45310	0.0:0.0:0.5616:0.4384|0.0:0.0:0.5616:0.4384	.|.	550;245;470;550;572;550;502;398;218;178|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	W|L	550;550;178;594;550;502;550;471;245;222;550;218;594;248;396|560	ENSP00000429911:R550W;ENSP00000438009:R550W;ENSP00000429170:R178W;ENSP00000429082:R594W;ENSP00000429474:R550W;ENSP00000378644:R550W;ENSP00000428492:R222W;ENSP00000341189:R550W;ENSP00000445742:R218W;ENSP00000429129:R594W;ENSP00000430603:R248W|.	ENSP00000341189:R550W|.	R|S	-|-	1|2	2|0	PTK2|PTK2	141822598|141822598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.836000|3.836000	0.55813|0.55813	2.442000|2.442000	0.82660|0.82660	0.591000|0.591000	0.81541|0.81541	CGG|TCG	PTK2	-	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	ENSG00000169398		0.333	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	98	0.00	0	G	NM_005607		141753416	141753416	-1	no_errors	ENST00000395218	ensembl	human	known	69_37n	missense	80	35.48	44	SNP	1.000	A
PTPRF	5792	genome.wustl.edu	37	1	44058239	44058239	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:44058239A>G	ENST00000359947.4	+	11	2120	c.1780A>G	c.(1780-1782)Acc>Gcc	p.T594A	PTPRF_ENST00000422171.2_Missense_Mutation_p.T53A|PTPRF_ENST00000372414.3_Missense_Mutation_p.T594A|PTPRF_ENST00000438120.1_Missense_Mutation_p.T594A|PTPRF_ENST00000372413.3_Missense_Mutation_p.T594A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	594	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGGCGTCTTCACCCCCACCAT	0.602																																						dbGAP											0													101.0	84.0	90.0					1																	44058239		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1780A>G	1.37:g.44058239A>G	ENSP00000353030:p.Thr594Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.T594A	ENST00000359947.4	37	c.1780	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.74|16.74	3.206388|3.206388	0.58343|0.58343	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171	.|T;T;T;T;T	.|0.53206	.|0.63;2.3;0.63;2.3;0.63	4.43|4.43	4.43|4.43	0.53597|0.53597	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.35320	.|N	.|0.003299	T|T	0.70979|0.70979	0.3286|0.3286	M|M	0.87547|0.87547	2.89|2.89	0.30739|0.30739	N|N	0.746355|0.746355	.|D;B;D;D;D	.|0.76494	.|0.99;0.018;0.992;0.996;0.999	.|D;B;D;D;D	.|0.91635	.|0.94;0.029;0.989;0.99;0.999	T|T	0.73845|0.73845	-0.3854|-0.3854	5|10	.|0.38643	.|T	.|0.18	.|.	14.3819|14.3819	0.66916|0.66916	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|250;53;353;594;594	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	R|A	261;118|594;594;594;594;53	.|ENSP00000353030:T594A;ENSP00000398822:T594A;ENSP00000361491:T594A;ENSP00000361490:T594A;ENSP00000387885:T53A	.|ENSP00000353030:T594A	H|T	+|+	2|1	0|0	PTPRF|PTPRF	43830826|43830826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.959000|8.959000	0.93110|0.93110	1.942000|1.942000	0.56320|0.56320	0.459000|0.459000	0.35465|0.35465	CAC|ACC	PTPRF	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142949		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	27	0.00	0	A			44058239	44058239	+1	no_errors	ENST00000359947	ensembl	human	known	69_37n	missense	31	25.53	12	SNP	1.000	G
PTPRQ	374462	genome.wustl.edu	37	12	80899901	80899901	+	Frame_Shift_Del	DEL	C	C	-	rs11114486	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:80899901delC	ENST00000266688.5	+	20	2359	c.2359delC	c.(2359-2361)caafs	p.Q787fs				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	833	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)	p.Q787K(1)		breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TGGAATCATACAAAAATATAC	0.328																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											49.0	35.0	40.0					12																	80899901		692	1578	2270	-	-	-	SO:0001589	frameshift_variant	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.2359delC	12.37:g.80899901delC	ENSP00000266688:p.Gln787fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Q787fs	ENST00000266688.5	37	c.2359		12																																																																																			PTPRQ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.328	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		20	0.00	0	C	NM_001145026		80899901	80899901	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	frame_shift_del	16	27.27	12	DEL	1.000	-
PXDN	7837	genome.wustl.edu	37	2	1652601	1652601	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:1652601A>G	ENST00000252804.4	-	17	3001	c.2951T>C	c.(2950-2952)cTg>cCg	p.L984P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	984					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CATGCTGGTCAGGCCCAGCTG	0.667																																						dbGAP											0													22.0	23.0	23.0					2																	1652601		2140	4242	6382	-	-	-	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2951T>C	2.37:g.1652601A>G	ENSP00000252804:p.Leu984Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8QM65|D6W4Y0|Q4KMG2	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,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.L984P	ENST00000252804.4	37	c.2951	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130624	0.77549	.	.	ENSG00000130508	ENST00000252804	T	0.75367	-0.93	5.49	5.49	0.81192	.	0.161351	0.42420	D	0.000717	D	0.91703	0.7377	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94853	0.8015	10	0.87932	D	0	-34.6485	15.6436	0.77029	1.0:0.0:0.0:0.0	.	984	Q92626	PXDN_HUMAN	P	984	ENSP00000252804:L984P	ENSP00000252804:L984P	L	-	2	0	PXDN	1631608	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.241000	0.95402	2.098000	0.63641	0.456000	0.33151	CTG	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.667	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	37	0.00	0	A	XM_056455		1652601	1652601	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	G
QRICH2	84074	genome.wustl.edu	37	17	74300972	74300972	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:74300972C>T	ENST00000262765.5	-	2	266	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	29										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGAATTGCTCCCGATCTT	0.542																																						dbGAP											0													183.0	187.0	186.0					17																	74300972		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.87G>A	17.37:g.74300972C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRE1|Q96LM3	Silent	SNP	NULL	p.E29	ENST00000262765.5	37	c.87	CCDS32741.1	17																																																																																			QRICH2	-	NULL	ENSG00000129646		0.542	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	86	0.00	0	C	NM_032134		74300972	74300972	-1	no_errors	ENST00000262765	ensembl	human	known	69_37n	silent	135	19.64	33	SNP	0.000	T
QSER1	79832	genome.wustl.edu	37	11	32996911	32996911	+	Intron	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:32996911delA	ENST00000399302.2	+	12	5402				QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1											breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCATTTACTTAAAAAAAATGT	0.289																																						dbGAP											0													54.0	53.0	53.0					11																	32996911		1794	4050	5844	-	-	-	SO:0001627	intron_variant	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5067+22A>-	11.37:g.32996911delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Frame_Shift_Del	DEL	NULL	p.M720fs	ENST00000399302.2	37	c.2151	CCDS41631.1	11																																																																																			QSER1	-	NULL	ENSG00000060749		0.289	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	67	0.00	0	A	NM_024774		32996911	32996911	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524678	ensembl	human	putative	69_37n	frame_shift_del	84	19.63	21	DEL	0.000	-
RAB13	5872	genome.wustl.edu	37	1	153956014	153956014	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:153956014A>G	ENST00000368575.3	-	3	344	c.229T>C	c.(229-231)Tac>Cac	p.Y77H	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	77					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	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)			CCACGGTAGTAGGCAGTAGTT	0.468																																					Ovarian(138;395 2427 24306 43415)	dbGAP											0													95.0	86.0	89.0					1																	153956014		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.229T>C	1.37:g.153956014A>G	ENSP00000357564:p.Tyr77His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,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.Y77H	ENST00000368575.3	37	c.229	CCDS1058.1	1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723131	0.89298	.	.	ENSG00000143545	ENST00000368575	D	0.82255	-1.59	5.54	5.54	0.83059	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90975	0.4823	10	0.87932	D	0	.	13.6792	0.62474	1.0:0.0:0.0:0.0	.	77;77	D3DV69;P51153	.;RAB13_HUMAN	H	77	ENSP00000357564:Y77H	ENSP00000357564:Y77H	Y	-	1	0	RAB13	152222638	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.590000	0.90821	2.330000	0.79161	0.528000	0.53228	TAC	RAB13	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000143545		0.468	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	119	0.00	0	A	NM_002870		153956014	153956014	-1	no_errors	ENST00000368575	ensembl	human	known	69_37n	missense	178	14.83	31	SNP	1.000	G
RABEP2	79874	genome.wustl.edu	37	16	28931139	28931139	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:28931139G>A	ENST00000358201.4	-	3	988	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	RABEP2_ENST00000357573.6_Missense_Mutation_p.P134S|RABEP2_ENST00000544477.1_Missense_Mutation_p.P63S|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	134					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GAGTCCAGGGGGTAGGCCCGG	0.612																																					Pancreas(66;639 1284 10093 31061 49099)	dbGAP											0													59.0	63.0	62.0					16																	28931139		1957	4147	6104	-	-	-	SO:0001583	missense	0			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.400C>T	16.37:g.28931139G>A	ENSP00000350934:p.Pro134Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.P134S	ENST00000358201.4	37	c.400	CCDS42140.1	16	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908318	0.52333	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.41758	1.0;0.99;0.99	4.75	4.75	0.60458	Rabaptin coiled-coil domain (1);	0.324668	0.28284	N	0.015905	T	0.48095	0.1481	N	0.11927	0.2	0.35110	D	0.766089	D;D;D;D	0.89917	1.0;0.988;0.99;1.0	D;P;P;D	0.91635	0.999;0.794;0.828;0.999	T	0.64558	-0.6379	10	0.87932	D	0	-25.4977	17.0026	0.86384	0.0:0.0:1.0:0.0	.	63;134;134;134	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	S	134;134;63	ENSP00000350934:P134S;ENSP00000350186:P134S;ENSP00000442798:P63S	ENSP00000350186:P134S	P	-	1	0	RABEP2	28838640	1.000000	0.71417	0.998000	0.56505	0.088000	0.18126	6.003000	0.70701	2.395000	0.81488	0.650000	0.86243	CCC	RABEP2	-	pfam_Rabaptin_coiled-coil	ENSG00000177548		0.612	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RABEP2	HGNC	protein_coding	OTTHUMT00000432691.1	53	0.00	0	G	NM_024816		28931139	28931139	-1	no_errors	ENST00000358201	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	1.000	A
RABGAP1L	9910	genome.wustl.edu	37	1	174219767	174219767	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:174219767T>C	ENST00000251507.4	+	6	1046	c.872T>C	c.(871-873)tTt>tCt	p.F291S	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.F254S|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAGGAAACTTTAGGTGAGGC	0.383																																						dbGAP											0													121.0	119.0	120.0					1																	174219767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.872T>C	1.37:g.174219767T>C	ENSP00000251507:p.Phe291Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAA4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.F291S	ENST00000251507.4	37	c.872	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249126	0.80024	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.59502	0.26;2.93;0.87	5.8	5.8	0.92144	.	0.055982	0.64402	D	0.000001	T	0.75049	0.3797	M	0.74258	2.255	0.80722	D	1	D;D;D	0.67145	0.996;0.981;0.996	P;D;P	0.66497	0.676;0.944;0.899	T	0.78398	-0.2219	10	0.87932	D	0	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	291;291;254	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	S	254;291;291;291	ENSP00000350027:F254S;ENSP00000251507:F291S;ENSP00000403136:F291S	ENSP00000251507:F291S	F	+	2	0	RABGAP1L	172486390	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.002000	0.70693	2.226000	0.72624	0.459000	0.35465	TTT	RABGAP1L	-	pfam_Kinesin-like	ENSG00000152061		0.383	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	90	0.00	0	T	NM_001243765		174219767	174219767	+1	no_errors	ENST00000251507	ensembl	human	known	69_37n	missense	109	28.76	44	SNP	1.000	C
RAI14	26064	genome.wustl.edu	37	5	34826493	34826493	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:34826493A>G	ENST00000265109.3	+	16	2995	c.2708A>G	c.(2707-2709)cAg>cGg	p.Q903R	RAI14_ENST00000397449.1_Missense_Mutation_p.Q896R|RAI14_ENST00000515799.1_Missense_Mutation_p.Q906R|RAI14_ENST00000428746.2_Missense_Mutation_p.Q903R|RAI14_ENST00000506376.1_Missense_Mutation_p.Q895R|RAI14_ENST00000512629.1_Missense_Mutation_p.Q874R|RAI14_ENST00000503673.1_Missense_Mutation_p.Q903R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	903						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGCCTCTCCCAGCTCTCCTAC	0.512																																						dbGAP											0													79.0	80.0	79.0					5																	34826493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2708A>G	5.37:g.34826493A>G	ENSP00000265109:p.Gln903Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q906R	ENST00000265109.3	37	c.2717	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540482	0.85917	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46	4.98	4.98	0.66077	.	.	.	.	.	T	0.72518	0.3470	M	0.78637	2.42	0.58432	D	0.99999	D;D;D;D	0.71674	0.998;0.993;0.996;0.993	D;D;D;D	0.80764	0.994;0.968;0.986;0.968	T	0.76716	-0.2857	9	0.66056	D	0.02	-18.5568	14.959	0.71141	1.0:0.0:0.0:0.0	.	895;874;906;903	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	903;874;903;903;906;895;896	ENSP00000265109:Q903R;ENSP00000422377:Q874R;ENSP00000388725:Q903R;ENSP00000422942:Q903R;ENSP00000427123:Q906R;ENSP00000423854:Q895R;ENSP00000380591:Q896R	ENSP00000265109:Q903R	Q	+	2	0	RAI14	34862250	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	8.910000	0.92685	2.009000	0.58944	0.459000	0.35465	CAG	RAI14	-	NULL	ENSG00000039560		0.512	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	58	0.00	0	A	NM_015577		34826493	34826493	+1	no_errors	ENST00000515799	ensembl	human	known	69_37n	missense	75	19.35	18	SNP	1.000	G
RALGAPA1	253959	genome.wustl.edu	37	14	36096681	36096681	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:36096681T>C	ENST00000389698.3	-	33	5344	c.4954A>G	c.(4954-4956)Acc>Gcc	p.T1652A	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1665A|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1652A|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T1699A	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1652	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTTTTACGGTTATATCTTCT	0.383																																						dbGAP											0													94.0	99.0	97.0					14																	36096681		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4954A>G	14.37:g.36096681T>C	ENSP00000374348:p.Thr1652Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.T1699A	ENST00000389698.3	37	c.5095	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	T	0.463	-0.887924	0.02511	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.96554	-3.32;-3.33;-3.33;-4.05;-3.32;-3.33	5.28	1.47	0.22746	.	0.502093	0.22609	N	0.057848	D	0.86539	0.5957	N	0.08118	0	0.23168	N	0.998182	B;B;B;B	0.09022	0.0;0.0;0.002;0.001	B;B;B;B	0.08055	0.0;0.0;0.001;0.003	T	0.74166	-0.3753	10	0.09590	T	0.72	-2.4817	5.0503	0.14505	0.1511:0.2228:0.0:0.626	.	1699;1665;1652;1652	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	A	1652;1652;1652;1699;290;1665;1699	ENSP00000374348:T1652A;ENSP00000302647:T1652A;ENSP00000258840:T1699A;ENSP00000451133:T290A;ENSP00000371803:T1665A;ENSP00000451877:T1699A	ENSP00000258840:T1699A	T	-	1	0	RALGAPA1	35166432	0.143000	0.22626	0.257000	0.24404	0.266000	0.26442	0.318000	0.19504	0.060000	0.16281	-0.250000	0.11733	ACC	RALGAPA1	-	NULL	ENSG00000174373		0.383	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	50	0.00	0	T	XM_210022		36096681	36096681	-1	no_errors	ENST00000258840	ensembl	human	known	69_37n	missense	49	36.36	28	SNP	0.369	C
RANBP10	57610	genome.wustl.edu	37	16	67768929	67768929	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:67768929G>T	ENST00000317506.3	-	6	723	c.608C>A	c.(607-609)aCc>aAc	p.T203N	RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.T203N|RANBP10_ENST00000448631.2_Missense_Mutation_p.T147N|RANBP10_ENST00000602887.1_5'Flank|RANBP10_ENST00000411657.2_Missense_Mutation_p.T86N|RANBP10_ENST00000425512.2_Missense_Mutation_p.T71N	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	203	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CAGGCCTACGGTGGGGTAGAG	0.597																																						dbGAP											0													52.0	48.0	50.0					16																	67768929		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.608C>A	16.37:g.67768929G>T	ENSP00000316589:p.Thr203Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.T203N	ENST00000317506.3	37	c.608	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.098148	0.94197	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000411657;ENST00000425512	T;T;T;T	0.69926	-0.44;0.15;-0.44;-0.44	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.86414	0.5927	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.89917	0.992;0.998;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.969;0.988;0.998;0.994;0.998	D	0.88614	0.3158	10	0.87932	D	0	-5.7433	19.6113	0.95607	0.0:0.0:1.0:0.0	.	71;203;86;147;203	B4DHL9;B4E1Y2;B4DID0;B4DQH9;Q6VN20	.;.;.;.;RBP10_HUMAN	N	203;147;86;71	ENSP00000316589:T203N;ENSP00000392808:T147N;ENSP00000416460:T86N;ENSP00000410617:T71N	ENSP00000316589:T203N	T	-	2	0	RANBP10	66326430	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.776000	0.99001	2.800000	0.96347	0.650000	0.86243	ACC	RANBP10	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000141084		0.597	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	24	0.00	0	G	NM_020850		67768929	67768929	-1	no_errors	ENST00000317506	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	T
RANBP6	26953	genome.wustl.edu	37	9	6012611	6012611	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:6012611T>C	ENST00000259569.5	-	1	3007	c.2997A>G	c.(2995-2997)gaA>gaG	p.E999E	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	999					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)		GTGGAAGAACTTCATCTACAT	0.368																																						dbGAP											0													105.0	98.0	101.0					9																	6012611		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.2997A>G	9.37:g.6012611T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E999	ENST00000259569.5	37	c.2997	CCDS6467.1	9																																																																																			RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.368	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	84	0.00	0	T	NM_012416		6012611	6012611	-1	no_errors	ENST00000259569	ensembl	human	known	69_37n	silent	216	10.37	25	SNP	1.000	C
RARRES2	5919	genome.wustl.edu	37	7	150037692	150037692	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:150037692G>A	ENST00000466675.1	-	1	1040	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	RP4-584D14.7_ENST00000563946.1_RNA|RARRES2_ENST00000482669.1_Missense_Mutation_p.R3W|RARRES2_ENST00000223271.3_Missense_Mutation_p.R3W			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	3					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			ATCAGCAGCCGTCGCATGCTT	0.746																																						dbGAP											0													4.0	5.0	5.0					7																	150037692		2104	4124	6228	-	-	-	SO:0001583	missense	0			U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"""Endogenous ligands"""	9868	protein-coding gene	gene with protein product	"""chemerin"""	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.7C>T	7.37:g.150037692G>A	ENSP00000418009:p.Arg3Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7LE02	Missense_Mutation	SNP	NULL	p.R3W	ENST00000466675.1	37	c.7	CCDS5902.1	7	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821267	0.16678	.	.	ENSG00000106538	ENST00000223271;ENST00000467793;ENST00000466675;ENST00000482669	.	.	.	4.7	2.82	0.32997	.	1.546570	0.03750	N	0.256497	T	0.36496	0.0969	L	0.36672	1.1	0.09310	N	1	D	0.63880	0.993	P	0.47705	0.555	T	0.16158	-1.0412	9	0.38643	T	0.18	-1.71	6.602	0.22705	0.0986:0.0:0.7226:0.1788	.	3	Q99969	RARR2_HUMAN	W	3	.	ENSP00000223271:R3W	R	-	1	2	RARRES2	149668625	0.077000	0.21312	0.010000	0.14722	0.176000	0.22953	1.053000	0.30442	0.548000	0.28955	0.555000	0.69702	CGG	RARRES2	-	NULL	ENSG00000106538		0.746	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RARRES2	HGNC	protein_coding	OTTHUMT00000350693.1	12	0.00	0	G			150037692	150037692	-1	no_errors	ENST00000223271	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.068	A
RASAL1	8437	genome.wustl.edu	37	12	113553048	113553048	+	Missense_Mutation	SNP	C	C	G	rs185010862	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:113553048C>G	ENST00000261729.5	-	12	1340	c.1025G>C	c.(1024-1026)cGt>cCt	p.R342P	RASAL1_ENST00000446861.3_Missense_Mutation_p.R342P|RASAL1_ENST00000546530.1_Missense_Mutation_p.R342P|RASAL1_ENST00000548055.1_Missense_Mutation_p.R342P|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	342	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.R342H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGAGTTAGAACGGAAGAGGGT	0.577																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											190.0	194.0	192.0					12																	113553048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1025G>C	12.37:g.113553048C>G	ENSP00000261729:p.Arg342Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.R342P	ENST00000261729.5	37	c.1025	CCDS9165.1	12	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662500	0.88251	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.78	4.78	0.61160	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	H	0.96398	3.815	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;0.999;1.0	D	0.86487	0.1795	10	0.87932	D	0	.	16.5796	0.84711	0.0:1.0:0.0:0.0	.	342;342;342;354;342;342;342	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	P	342	ENSP00000450244:R342P;ENSP00000261729:R342P;ENSP00000395920:R342P;ENSP00000448510:R342P	ENSP00000261729:R342P	R	-	2	0	RASAL1	112037431	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.197000	0.77814	2.205000	0.71048	0.491000	0.48974	CGT	RASAL1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000111344		0.577	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	159	0.00	0	C	NM_004658		113553048	113553048	-1	no_errors	ENST00000546530	ensembl	human	known	69_37n	missense	93	44.97	76	SNP	1.000	G
RBBP6	5930	genome.wustl.edu	37	16	24574618	24574618	+	Splice_Site	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:24574618T>A	ENST00000319715.4	+	11	1818		c.e11+2		RBBP6_ENST00000348022.2_Splice_Site|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6						embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAAGAGAAGGTAAATTTTACT	0.348																																						dbGAP											0													62.0	67.0	65.0					16																	24574618		2183	4291	6474	-	-	-	SO:0001630	splice_region_variant	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1386+2T>A	16.37:g.24574618T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Splice_Site	SNP	-	e11+2	ENST00000319715.4	37	c.1386+2	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	T	14.70	2.613802	0.46631	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	.	.	.	5.61	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0985	0.42491	0.0:0.076:0.0:0.924	.	.	.	.	.	-1	.	.	.	+	.	.	RBBP6	24482119	1.000000	0.71417	0.938000	0.37757	0.735000	0.41995	3.353000	0.52247	0.957000	0.37930	0.460000	0.39030	.	RBBP6	-	-	ENSG00000122257		0.348	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	29	0.00	0	T	NM_006910	Intron	24574618	24574618	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	splice_site	74	15.91	14	SNP	0.997	A
RBM11	54033	genome.wustl.edu	37	21	15588559	15588559	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:15588559G>C	ENST00000400577.3	+	1	61	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	18	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TGGGAATTTAGAGGCCCGAGT	0.607																																						dbGAP											0													51.0	55.0	54.0					21																	15588559		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.52G>C	21.37:g.15588559G>C	ENSP00000383421:p.Glu18Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E18Q	ENST00000400577.3	37	c.52	CCDS46635.1	21	.	.	.	.	.	.	.	.	.	.	G	33	5.198325	0.94997	.	.	ENSG00000185272	ENST00000400577	T	0.74209	-0.82	5.13	5.13	0.70059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.082423	0.49916	D	0.000125	T	0.78387	0.4275	L	0.28344	0.845	0.43313	D	0.995323	D	0.61697	0.99	D	0.64410	0.925	T	0.80402	-0.1397	10	0.56958	D	0.05	-14.9651	17.7392	0.88403	0.0:0.0:1.0:0.0	.	18	P57052	RBM11_HUMAN	Q	18	ENSP00000383421:E18Q	ENSP00000383421:E18Q	E	+	1	0	RBM11	14510430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.295000	0.65692	2.551000	0.86045	0.591000	0.81541	GAG	RBM11	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000185272		0.607	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	55	0.00	0	G	NM_144770		15588559	15588559	+1	no_errors	ENST00000400577	ensembl	human	known	69_37n	missense	81	18.18	18	SNP	1.000	C
RBM4	5936	genome.wustl.edu	37	11	66407221	66407221	+	Silent	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:66407221T>A	ENST00000409406.1	+	1	816	c.39T>A	c.(37-39)gcT>gcA	p.A13A	RBM4_ENST00000408993.2_Silent_p.A13A|RBM4_ENST00000506523.2_Silent_p.A13A|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000483858.1_Silent_p.A13A|RBM4_ENST00000396053.4_Silent_p.A13A|RBM4_ENST00000503028.2_Silent_p.A13A|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000532968.1_Silent_p.A13A|RBM4_ENST00000530235.1_Silent_p.A13A|RBM4_ENST00000310092.7_Silent_p.A13A|RBM4_ENST00000578778.1_Silent_p.A13A|RBM4_ENST00000398692.4_Silent_p.A13A			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	13	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CCCGGGAGGCTACAGAGCAGG	0.507																																						dbGAP											0													97.0	99.0	98.0					11																	66407221		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.39T>A	11.37:g.66407221T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y130N	ENST00000409406.1	37	c.388	CCDS41676.1	11																																																																																			RBM14-RBM4	-	smart_RRM_dom	ENSG00000248643		0.507	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM14-RBM4	HGNC	protein_coding	OTTHUMT00000334212.1	73	0.00	0	T	NM_002896		66407221	66407221	+1	no_errors	ENST00000421355	ensembl	human	known	69_37n	missense	115	16.06	22	SNP	0.990	A
RBM22	55696	genome.wustl.edu	37	5	150075198	150075198	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:150075198T>C	ENST00000199814.4	-	7	737	c.616A>G	c.(616-618)Aat>Gat	p.N206D	RBM22_ENST00000447771.2_Missense_Mutation_p.N157D|RBM22_ENST00000540000.1_Missense_Mutation_p.N157D	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	206					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGGATCATTGATTCCGTAA	0.428																																						dbGAP											0													104.0	98.0	100.0					5																	150075198		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.616A>G	5.37:g.150075198T>C	ENSP00000199814:p.Asn206Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.N206D	ENST00000199814.4	37	c.616	CCDS34278.1	5	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415833	0.83449	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	T;T	0.06294	3.32;3.32	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	M	0.73962	2.25	0.80722	D	1	B	0.24317	0.101	B	0.22152	0.038	T	0.02042	-1.1224	10	0.38643	T	0.18	-14.3986	15.7996	0.78443	0.0:0.0:0.0:1.0	.	206	Q9NW64	RBM22_HUMAN	D	206;157;157	ENSP00000441594:N157D;ENSP00000412118:N157D	ENSP00000199814:N206D	N	-	1	0	RBM22	150055391	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	7.948000	0.87774	2.133000	0.65898	0.533000	0.62120	AAT	RBM22	-	NULL	ENSG00000086589		0.428	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM22	HGNC	protein_coding	OTTHUMT00000374431.2	77	0.00	0	T	NM_018047		150075198	150075198	-1	no_errors	ENST00000199814	ensembl	human	known	69_37n	missense	52	40.23	35	SNP	1.000	C
RBM26	64062	genome.wustl.edu	37	13	79932450	79932450	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:79932450T>G	ENST00000438737.2	-	11	2088	c.1648A>C	c.(1648-1650)Aat>Cat	p.N550H	RBM26_ENST00000438724.1_Missense_Mutation_p.N550H|RBM26_ENST00000267229.7_Missense_Mutation_p.N550H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	550	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		AAATGTTCATTAAGTTTGCTG	0.333																																						dbGAP											0													79.0	85.0	83.0					13																	79932450		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1648A>C	13.37:g.79932450T>G	ENSP00000387531:p.Asn550His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.N550H	ENST00000438737.2	37	c.1648		13	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283566	0.80803	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.08102	3.13;3.13	5.14	5.14	0.70334	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.91635	0.994;0.999;0.994	T	0.23940	-1.0174	9	.	.	.	-25.0728	15.2355	0.73427	0.0:0.0:0.0:1.0	.	550;550;550	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	H	550;551;550;550	ENSP00000267229:N550H;ENSP00000390222:N550H	.	N	-	1	0	RBM26	78830451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.439000	0.80444	2.043000	0.60533	0.383000	0.25322	AAT	RBM26	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000139746		0.333	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	89	0.00	0	T	NM_022118		79932450	79932450	-1	no_errors	ENST00000327303	ensembl	human	known	69_37n	missense	113	25.66	39	SNP	1.000	G
RBM42	79171	genome.wustl.edu	37	19	36128363	36128363	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:36128363C>T	ENST00000262633.4	+	10	1455	c.1350C>T	c.(1348-1350)cgC>cgT	p.R450R	RBM42_ENST00000586618.1_Silent_p.R154R|RBM42_ENST00000589871.1_Silent_p.R428R|RBM42_ENST00000588161.1_Silent_p.R420R|RBM42_ENST00000360475.4_Silent_p.R421R|RBM42_ENST00000592202.1_Silent_p.R396R|RBM42_ENST00000589559.1_Silent_p.R356R	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	450	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGGCTCGCGCCCCATCAAGC	0.612																																						dbGAP											0													97.0	95.0	96.0					19																	36128363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1350C>T	19.37:g.36128363C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00320|Q8N5R7|Q9BU66	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R450	ENST00000262633.4	37	c.1350	CCDS12468.1	19																																																																																			RBM42	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000126254		0.612	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	50	0.00	0	C	NM_024321		36128363	36128363	+1	no_errors	ENST00000262633	ensembl	human	known	69_37n	silent	44	41.56	32	SNP	0.886	T
RC3H1	149041	genome.wustl.edu	37	1	173962098	173962098	+	Missense_Mutation	SNP	G	G	T	rs199537248		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:173962098G>T	ENST00000367696.2	-	2	377	c.26C>A	c.(25-27)aCg>aAg	p.T9K	RC3H1_ENST00000367694.2_Missense_Mutation_p.T9K|RC3H1_ENST00000258349.4_Missense_Mutation_p.T9K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	9					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAGGAAATCCGTCCATTGTGG	0.448																																						dbGAP											0													113.0	109.0	110.0					1																	173962098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.26C>A	1.37:g.173962098G>T	ENSP00000356669:p.Thr9Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.T9K	ENST00000367696.2	37	c.26	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.150648	0.94645	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.94537	-3.45;-3.45;-3.45	5.78	5.78	0.91487	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95156	0.8430	N	0.17838	0.53	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;0.998;0.998	D	0.95990	0.8985	10	0.87932	D	0	-10.3493	20.0124	0.97464	0.0:0.0:1.0:0.0	.	9;9;9;9	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	K	9	ENSP00000356669:T9K;ENSP00000258349:T9K;ENSP00000356667:T9K	ENSP00000258349:T9K	T	-	2	0	RC3H1	172228721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.349000	0.97066	2.749000	0.94314	0.655000	0.94253	ACG	RC3H1	-	NULL	ENSG00000135870		0.448	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	88	0.00	0	G	NM_172071		173962098	173962098	-1	no_errors	ENST00000258349	ensembl	human	known	69_37n	missense	151	17.84	33	SNP	1.000	T
RDX	5962	genome.wustl.edu	37	11	110134808	110134808	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:110134808A>G	ENST00000343115.4	-	5	663	c.344T>C	c.(343-345)aTa>aCa	p.I115T	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.I115T|RDX_ENST00000405097.1_Missense_Mutation_p.I115T|RDX_ENST00000544551.1_Intron|RDX_ENST00000530301.1_Missense_Mutation_p.I83T	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	115	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)		CGGGCAATATATCTCATCATT	0.393																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	dbGAP											0													75.0	75.0	75.0					11																	110134808		2201	4298	6499	-	-	-	SO:0001583	missense	0			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.344T>C	11.37:g.110134808A>G	ENSP00000342830:p.Ile115Thr	Somatic		WXS	Illumina GAIIx	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.I115T	ENST00000343115.4	37	c.344	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174283	0.78452	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000530301;ENST00000343115;ENST00000532118;ENST00000533991	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.99	4.99	0.66335	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.093207	0.64402	D	0.000001	D	0.90390	0.6992	M	0.90595	3.13	0.80722	D	1	P;P;D	0.53312	0.603;0.812;0.959	P;P;P	0.62491	0.781;0.746;0.903	D	0.92303	0.5851	10	0.66056	D	0.02	.	14.9797	0.71303	1.0:0.0:0.0:0.0	.	83;115;115	A7YIK0;A7YIJ8;P35241	.;.;RADI_HUMAN	T	115;115;115;83;115;104;104	ENSP00000432112:I115T;ENSP00000384136:I115T;ENSP00000436277:I83T;ENSP00000342830:I115T;ENSP00000437140:I104T;ENSP00000432572:I104T	ENSP00000342830:I115T	I	-	2	0	RDX	109640018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.564000	0.60830	1.987000	0.57996	0.528000	0.53228	ATA	RDX	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	ENSG00000137710		0.393	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	61	0.00	0	A	NM_002906		110134808	110134808	-1	no_errors	ENST00000530749	ensembl	human	known	69_37n	missense	48	42.17	35	SNP	1.000	G
RGL2	5863	genome.wustl.edu	37	6	33263965	33263965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:33263965delC	ENST00000497454.1	-	6	1103	c.608delG	c.(607-609)ggcfs	p.G203fs	RGL2_ENST00000444031.2_Frame_Shift_Del_p.G121fs|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	203	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GTCAGCGCTGCCCCCCCCAAC	0.657																																						dbGAP											0													93.0	106.0	101.0					6																	33263965		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.608delG	6.37:g.33263965delC	ENSP00000420211:p.Gly203fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG72|Q5STK0|Q9Y3F3	Frame_Shift_Del	DEL	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,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.G203fs	ENST00000497454.1	37	c.608	CCDS4774.1	6																																																																																			RGL2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000237441		0.657	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	52	0.00	0	C			33263965	33263965	-1	no_errors	ENST00000497454	ensembl	human	known	69_37n	frame_shift_del	50	15.25	9	DEL	1.000	-
RGS7BP	401190	genome.wustl.edu	37	5	63894218	63894218	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:63894218T>A	ENST00000334025.2	+	5	964	c.638T>A	c.(637-639)tTa>tAa	p.L213*		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	213					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AAAAACCTTTTAAGCAAACTC	0.328																																						dbGAP											0													125.0	134.0	131.0					5																	63894218		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.638T>A	5.37:g.63894218T>A	ENSP00000334851:p.Leu213*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3X1	Nonsense_Mutation	SNP	NULL	p.L213*	ENST00000334025.2	37	c.638	CCDS34170.1	5	.	.	.	.	.	.	.	.	.	.	T	40	8.132983	0.98670	.	.	ENSG00000186479	ENST00000334025	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0629	16.0412	0.80683	0.0:0.0:0.0:1.0	.	.	.	.	X	213	.	ENSP00000334851:L213X	L	+	2	0	RGS7BP	63929974	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.181000	0.77682	2.271000	0.75665	0.533000	0.62120	TTA	RGS7BP	-	NULL	ENSG00000186479		0.328	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS7BP	HGNC	protein_coding	OTTHUMT00000368464.1	77	0.00	0	T	NM_001029875		63894218	63894218	+1	no_errors	ENST00000334025	ensembl	human	known	69_37n	nonsense	50	42.53	37	SNP	1.000	A
RHBG	57127	genome.wustl.edu	37	1	156354347	156354348	+	Frame_Shift_Ins	INS	-	-	C	rs71591938|rs11303415|rs587735548	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:156354347_156354348insC	ENST00000368249.1	+	9	1302_1303	c.1264_1265insC	c.(1264-1266)tccfs	p.S422fs	RHBG_ENST00000368246.2_Splice_Site|RHBG_ENST00000400992.2_Frame_Shift_Ins_p.S390fs|RHBG_ENST00000255013.3_Frame_Shift_Ins_p.S353fs|RHBG_ENST00000494874.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	422	Interaction with ANK3.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R425fs*>17(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTTCTGGACTCCCCCCCCAGA	0.634											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1272dupC	1.37:g.156354355_156354355dupC	ENSP00000357232:p.Ser422fs	Somatic	1777	WXS	Illumina GAIIx	Phase_IV	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Frame_Shift_Ins	INS	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.R393fs	ENST00000368249.1	37	c.1168_1169		1																																																																																			RHBG	-	superfamily_NH4_transpt_AmtB-like	ENSG00000132677		0.634	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	67	0.00	0	-	NM_001256395		156354347	156354348	+1	no_errors	ENST00000400992	ensembl	human	known	69_37n	frame_shift_ins	108	11.48	14	INS	0.006:0.723	C
RHOBTB2	23221	genome.wustl.edu	37	8	22864368	22864368	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:22864368A>G	ENST00000251822.6	+	5	1147	c.610A>G	c.(610-612)Atc>Gtc	p.I204V	RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.I211V|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.I226V	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	204	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGACAACGCCATCCGAGCTGC	0.632																																						dbGAP											0													104.0	96.0	98.0					8																	22864368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.610A>G	8.37:g.22864368A>G	ENSP00000251822:p.Ile204Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.I204V	ENST00000251822.6	37	c.610	CCDS6034.1	8	.	.	.	.	.	.	.	.	.	.	A	18.62	3.662930	0.67700	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.75821	-0.97;-0.97;-0.97	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	L	0.39692	1.235	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.91635	0.999;0.999;0.999	T	0.81529	-0.0891	10	0.52906	T	0.07	.	13.7589	0.62954	1.0:0.0:0.0:0.0	.	211;204;226	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	V	226;211;204	ENSP00000427926:I226V;ENSP00000429141:I211V;ENSP00000251822:I204V	ENSP00000251822:I204V	I	+	1	0	RHOBTB2	22920313	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.327000	0.96396	1.918000	0.55548	0.460000	0.39030	ATC	RHOBTB2	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase	ENSG00000008853		0.632	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	54	0.00	0	A			22864368	22864368	+1	no_errors	ENST00000251822	ensembl	human	known	69_37n	missense	31	41.51	22	SNP	1.000	G
RHOBTB2	23221	genome.wustl.edu	37	8	22864740	22864740	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:22864740C>T	ENST00000251822.6	+	5	1519	c.982C>T	c.(982-984)Cac>Tac	p.H328Y	RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H335Y|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H350Y	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	328	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCAAcaccaccaccatcacca	0.667																																						dbGAP											0													36.0	40.0	38.0					8																	22864740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.982C>T	8.37:g.22864740C>T	ENSP00000251822:p.His328Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.H328Y	ENST00000251822.6	37	c.982	CCDS6034.1	8	.	.	.	.	.	.	.	.	.	.	C	0.259	-1.001033	0.02128	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09163	3.01;3.01;3.01	4.87	4.87	0.63330	BTB/POZ-like (2);BTB/POZ fold (1);	0.233551	0.30311	N	0.009905	T	0.07638	0.0192	N	0.22421	0.69	0.39314	D	0.965121	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.26121	-1.0112	10	0.30078	T	0.28	.	10.2766	0.43515	0.0:0.908:0.0:0.092	.	335;328;350	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	Y	350;335;328	ENSP00000427926:H350Y;ENSP00000429141:H335Y;ENSP00000251822:H328Y	ENSP00000251822:H328Y	H	+	1	0	RHOBTB2	22920685	0.995000	0.38212	1.000000	0.80357	0.382000	0.30200	0.076000	0.14712	2.228000	0.72767	0.655000	0.94253	CAC	RHOBTB2	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000008853		0.667	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	32	0.00	0	C			22864740	22864740	+1	no_errors	ENST00000251822	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	1.000	T
RIF1	55183	genome.wustl.edu	37	2	152324612	152324612	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:152324612T>G	ENST00000243326.5	+	30	7182	c.6699T>G	c.(6697-6699)agT>agG	p.S2233R	RIF1_ENST00000430328.2_Missense_Mutation_p.S2233R|RIF1_ENST00000444746.2_Missense_Mutation_p.S2233R|RIF1_ENST00000453091.2_Missense_Mutation_p.S2233R|RIF1_ENST00000428287.2_Missense_Mutation_p.S2233R			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTTCCAATAGTTCTCCCATAG	0.388																																						dbGAP											0													103.0	100.0	101.0					2																	152324612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6699T>G	2.37:g.152324612T>G	ENSP00000243326:p.Ser2233Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.S2233R	ENST00000243326.5	37	c.6699	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510731	0.64522	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10860	2.83;2.85;2.85;2.83;2.85	5.54	3.11	0.35812	.	0.481133	0.21768	N	0.069403	T	0.10165	0.0249	L	0.44542	1.39	0.80722	D	1	P;P	0.43826	0.818;0.496	B;B	0.39465	0.235;0.3	T	0.05500	-1.0881	10	0.87932	D	0	-7.5086	9.2978	0.37827	0.0:0.1505:0.0:0.8495	.	2233;2233	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	R	2233	ENSP00000390181:S2233R;ENSP00000414615:S2233R;ENSP00000415691:S2233R;ENSP00000243326:S2233R;ENSP00000416123:S2233R	ENSP00000243326:S2233R	S	+	3	2	RIF1	152032858	1.000000	0.71417	0.956000	0.39512	0.751000	0.42716	1.486000	0.35530	0.374000	0.24650	0.482000	0.46254	AGT	RIF1	-	NULL	ENSG00000080345		0.388	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	62	0.00	0	T			152324612	152324612	+1	no_errors	ENST00000243326	ensembl	human	known	69_37n	missense	58	27.50	22	SNP	0.999	G
RIPK3	11035	genome.wustl.edu	37	14	24807202	24807202	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:24807202G>T	ENST00000216274.5	-	6	927	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank|RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_5'Flank|ADCY4_ENST00000310677.4_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GGCCGGTTCTGCCTGTTGCAC	0.567																																					Pancreas(58;918 1191 4668 13304 15331)	dbGAP											0													72.0	66.0	68.0					14																	24807202		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.709C>A	14.37:g.24807202G>T	ENSP00000216274:p.Gln237Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	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.Q237K	ENST00000216274.5	37	c.709	CCDS9628.1	14	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693990	0.48202	.	.	ENSG00000129465	ENST00000216274	T	0.63913	-0.07	4.67	-0.562	0.11781	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.592959	0.15352	N	0.266925	T	0.36303	0.0962	N	0.20357	0.565	0.09310	N	1	B	0.25351	0.124	B	0.21917	0.037	T	0.14282	-1.0478	10	0.16896	T	0.51	-1.2353	3.9172	0.09228	0.0791:0.3841:0.2727:0.2641	.	237	Q9Y572	RIPK3_HUMAN	K	237	ENSP00000216274:Q237K	ENSP00000216274:Q237K	Q	-	1	0	RIPK3	23877042	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.292000	0.19011	-0.084000	0.12595	-0.913000	0.02753	CAG	RIPK3	-	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	ENSG00000129465		0.567	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	HGNC	protein_coding	OTTHUMT00000073203.4	33	0.00	0	G	NM_006871		24807202	24807202	-1	no_errors	ENST00000216274	ensembl	human	known	69_37n	missense	18	50.00	18	SNP	0.000	T
RLIM	51132	genome.wustl.edu	37	X	73814166	73814166	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:73814166T>C	ENST00000332687.6	-	3	446	c.228A>G	c.(226-228)ccA>ccG	p.P76P	RLIM_ENST00000349225.2_Silent_p.P76P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	76					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTTTTGCGGTGGTGGGCCTT	0.423																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	dbGAP											0													147.0	116.0	127.0					X																	73814166		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.228A>G	X.37:g.73814166T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P76	ENST00000332687.6	37	c.228	CCDS14427.1	X																																																																																			RLIM	-	NULL	ENSG00000131263		0.423	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	176	0.00	0	T	NM_016120		73814166	73814166	-1	no_errors	ENST00000332687	ensembl	human	known	69_37n	silent	243	18.18	54	SNP	0.997	C
RLN2	6019	genome.wustl.edu	37	9	5304561	5304561	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:5304561delA	ENST00000381627.3	-	1	408	c.20delT	c.(19-21)ttcfs	p.F7fs	RLN2_ENST00000308420.3_Frame_Shift_Del_p.F7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					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)		TAGCAGGTGGAAAAAAAACAG	0.532																																						dbGAP											0													62.0	64.0	63.0					9																	5304561		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				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.20delT	9.37:g.5304561delA	ENSP00000371040:p.Phe7fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Frame_Shift_Del	DEL	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.F7fs	ENST00000381627.3	37	c.20	CCDS6460.1	9																																																																																			RLN2	-	prints_Relaxin	ENSG00000107014		0.532	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN2	HGNC	protein_coding	OTTHUMT00000051619.1	26	0.00	0	A	NM_134441		5304561	5304561	-1	no_errors	ENST00000381627	ensembl	human	known	69_37n	frame_shift_del	59	17.57	13	DEL	0.078	-
RMND5B	64777	genome.wustl.edu	37	5	177574760	177574760	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:177574760T>C	ENST00000515098.1	+	11	1345	c.994T>C	c.(994-996)Tac>Cac	p.Y332H	RMND5B_ENST00000542098.1_Missense_Mutation_p.Y319H|RMND5B_ENST00000313386.4_Missense_Mutation_p.Y332H			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	332										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)			GAAGTGCTGGTACCACTCCGT	0.562																																						dbGAP											0													175.0	158.0	164.0					5																	177574760		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.994T>C	5.37:g.177574760T>C	ENSP00000420875:p.Tyr332His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.Y332H	ENST00000515098.1	37	c.994	CCDS4431.1	5	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687237	0.88639	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.75884	2.315	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.76841	-0.2810	9	0.34782	T	0.22	-31.2185	14.0667	0.64834	0.0:0.0:0.0:1.0	.	319;319;332	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	H	332;332;319	.	ENSP00000320623:Y332H	Y	+	1	0	RMND5B	177507366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.832000	0.86757	2.200000	0.70718	0.460000	0.39030	TAC	RMND5B	-	NULL	ENSG00000145916		0.562	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMND5B	HGNC	protein_coding	OTTHUMT00000373542.1	104	0.00	0	T	NM_022762		177574760	177574760	+1	no_errors	ENST00000313386	ensembl	human	known	69_37n	missense	175	14.22	29	SNP	1.000	C
RNASE6	6039	genome.wustl.edu	37	14	21250102	21250102	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:21250102A>G	ENST00000304677.2	+	2	537	c.244A>G	c.(244-246)Agc>Ggc	p.S82G	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	82					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TGATTTGCTCAGCATTGTCTG	0.478																																						dbGAP											0													158.0	150.0	153.0					14																	21250102		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"""Ribonucleases, RNase A"""	10048	protein-coding gene	gene with protein product	"""RNase k6"""	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.244A>G	14.37:g.21250102A>G	ENSP00000302046:p.Ser82Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.S82G	ENST00000304677.2	37	c.244	CCDS9558.1	14	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936143	0.34189	.	.	ENSG00000169413	ENST00000304677	T	0.72835	-0.69	5.06	2.63	0.31362	Ribonuclease A, domain (4);	0.953032	0.08759	N	0.897948	T	0.66626	0.2808	L	0.53561	1.675	0.09310	N	1	P	0.34462	0.454	B	0.34931	0.192	T	0.56631	-0.7947	10	0.66056	D	0.02	-0.2299	9.4562	0.38756	0.6516:0.3484:0.0:0.0	.	82	Q93091	RNAS6_HUMAN	G	82	ENSP00000302046:S82G	ENSP00000302046:S82G	S	+	1	0	RNASE6	20319942	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.904000	0.28491	0.454000	0.26884	0.528000	0.53228	AGC	RNASE6	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	ENSG00000169413		0.478	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE6	HGNC	protein_coding	OTTHUMT00000073750.2	136	0.00	0	A			21250102	21250102	+1	no_errors	ENST00000304677	ensembl	human	known	69_37n	missense	89	36.17	51	SNP	0.001	G
RNF128	79589	genome.wustl.edu	37	X	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agtfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343																																						dbGAP											0													70.0	74.0	72.0					X																	105937256		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.24delT	X.37:g.105937256delT	ENSP00000316127:p.Ser8fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.W11fs	ENST00000324342.3	37	c.24	CCDS14520.1	X																																																																																			RNF128	-	NULL	ENSG00000133135		0.343	RNF128-002	KNOWN	basic|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057805.1	68	0.00	0	T	NM_024539		105937256	105937256	+1	no_errors	ENST00000324342	ensembl	human	known	69_37n	frame_shift_del	119	10.45	14	DEL	0.000	-
RNF149	284996	genome.wustl.edu	37	2	101911394	101911394	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:101911394T>C	ENST00000295317.3	-	2	817	c.710A>G	c.(709-711)cAg>cGg	p.Q237R		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	237					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CATCATTACCTGACTTCCAAT	0.338																																					Colon(25;331 612 6521 7355 31028)	dbGAP											0													48.0	52.0	50.0					2																	101911394		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.711+1A>G	2.37:g.101911394T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q237R	ENST00000295317.3	37	c.710	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820949	0.71028	.	.	ENSG00000163162	ENST00000295317	T	0.08546	3.08	5.47	5.47	0.80525	.	0.196020	0.35585	N	0.003110	T	0.24851	0.0603	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00353	-1.1795	10	0.54805	T	0.06	.	15.5788	0.76414	0.0:0.0:0.0:1.0	.	237	Q8NC42	RN149_HUMAN	R	237	ENSP00000295317:Q237R	ENSP00000295317:Q237R	Q	-	2	0	RNF149	101277826	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.587000	0.82613	2.079000	0.62486	0.482000	0.46254	CAG	RNF149	-	NULL	ENSG00000163162		0.338	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	31	0.00	0	T	NM_173647	Missense_Mutation	101911394	101911394	-1	no_errors	ENST00000295317	ensembl	human	known	69_37n	missense	19	45.71	16	SNP	1.000	C
RNF215	200312	genome.wustl.edu	37	22	30775714	30775714	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:30775714T>A	ENST00000382363.3	-	8	1171	c.1097A>T	c.(1096-1098)aAa>aTa	p.K366I	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	366						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GACGTTGAATTTGCACAGTGG	0.627																																						dbGAP											0													65.0	60.0	62.0					22																	30775714		2194	4280	6474	-	-	-	SO:0001583	missense	0				CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.1097A>T	22.37:g.30775714T>A	ENSP00000371800:p.Lys366Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEL1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K366I	ENST00000382363.3	37	c.1097	CCDS33633.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.19|17.19	3.326286|3.326286	0.60743|0.60743	.|.	.|.	ENSG00000099999|ENSG00000099999	ENST00000421022;ENST00000382363|ENST00000215798	T;T|.	0.69561|.	-0.41;0.86|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76863|0.76863	0.4047|0.4047	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.79911|0.79911	-0.1603|-0.1603	10|5	0.87932|.	D|.	0|.	-38.2812|-38.2812	12.5853|12.5853	0.56414|0.56414	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	366|.	Q9Y6U7|.	RN215_HUMAN|.	I|H	17;366|303	ENSP00000396278:K17I;ENSP00000371800:K366I|.	ENSP00000371800:K366I|.	K|Q	-|-	2|3	0|2	RNF215|RNF215	29105714|29105714	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.980000|0.980000	0.70556|0.70556	7.076000|7.076000	0.76806|0.76806	1.970000|1.970000	0.57323|0.57323	0.459000|0.459000	0.35465|0.35465	AAA|CAA	RNF215	-	pfscan_Znf_RING	ENSG00000099999		0.627	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF215	HGNC	protein_coding	OTTHUMT00000320960.1	62	0.00	0	T	NM_001017981		30775714	30775714	-1	no_errors	ENST00000382363	ensembl	human	known	69_37n	missense	107	11.57	14	SNP	1.000	A
ROS1	6098	genome.wustl.edu	37	6	117687257	117687257	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:117687257A>T	ENST00000368508.3	-	18	2992	c.2794T>A	c.(2794-2796)Tcc>Acc	p.S932T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S927T	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	932					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCTTAAGGGATGTCTGAATA	0.373			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													156.0	159.0	158.0					6																	117687257		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2794T>A	6.37:g.117687257A>T	ENSP00000357494:p.Ser932Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.S932T	ENST00000368508.3	37	c.2794	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	A	14.56	2.571515	0.45798	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71579	-0.58;-0.58	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000026	T	0.41351	0.1155	L	0.29908	0.895	0.80722	D	1	B	0.32781	0.384	B	0.26517	0.07	T	0.50759	-0.8790	10	0.44086	T	0.13	.	10.846	0.46743	0.859:0.0:0.0:0.1409	.	932	P08922	ROS1_HUMAN	T	932;927	ENSP00000357494:S932T;ENSP00000357493:S927T	ENSP00000357493:S927T	S	-	1	0	ROS1	117793950	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.453000	0.52978	2.002000	0.58637	0.528000	0.53228	TCC	ROS1	-	NULL	ENSG00000047936		0.373	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	83	0.00	0	A			117687257	117687257	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	missense	79	39.23	51	SNP	1.000	T
RPA4	29935	genome.wustl.edu	37	X	96139824	96139824	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:96139824G>A	ENST00000373040.3	+	1	918	c.515G>A	c.(514-516)cGt>cAt	p.R172H	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	172					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GATAAAGCCCGTCGTGATACC	0.468								Other identified genes with known or suspected DNA repair function																														dbGAP											0													144.0	113.0	123.0					X																	96139824		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.515G>A	X.37:g.96139824G>A	ENSP00000362131:p.Arg172His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.R172H	ENST00000373040.3	37	c.515	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	G	1.373	-0.585436	0.03827	.	.	ENSG00000204086	ENST00000373040	T	0.45276	0.9	3.6	-7.2	0.01495	Replication protein A, C-terminal (1);	.	.	.	.	T	0.10937	0.0267	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.10730	-1.0617	9	0.13108	T	0.6	0.022	0.8396	0.01147	0.407:0.2302:0.1248:0.2379	.	172	Q13156	RFA4_HUMAN	H	172	ENSP00000362131:R172H	ENSP00000362131:R172H	R	+	2	0	RPA4	96026480	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.638000	0.00866	-5.658000	0.00011	-1.005000	0.02491	CGT	RPA4	-	pfam_RPA_C,pirsf_RPA32	ENSG00000204086		0.468	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	70	0.00	0	G	NM_013347		96139824	96139824	+1	no_errors	ENST00000373040	ensembl	human	known	69_37n	missense	93	16.07	18	SNP	0.000	A
RPGRIP1	57096	genome.wustl.edu	37	14	21770705	21770705	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:21770705T>C	ENST00000400017.2	+	4	549	c.549T>C	c.(547-549)aaT>aaC	p.N183N	RPGRIP1_ENST00000556336.1_Silent_p.N183N|RPGRIP1_ENST00000557771.1_Silent_p.N183N|RPGRIP1_ENST00000206660.6_Silent_p.N183N	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	183					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)		ATGCGACAAATGAAAACAGAG	0.448																																						dbGAP											0													49.0	50.0	50.0					14																	21770705		1921	4131	6052	-	-	-	SO:0001819	synonymous_variant	0			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.549T>C	14.37:g.21770705T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.N183	ENST00000400017.2	37	c.549	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL	ENSG00000092200		0.448	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	60	0.00	0	T	NM_020366		21770705	21770705	+1	no_errors	ENST00000206660	ensembl	human	known	69_37n	silent	30	37.50	18	SNP	0.025	C
RPGRIP1L	23322	genome.wustl.edu	37	16	53691441	53691441	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:53691441T>C	ENST00000379925.3	-	13	1555	c.1505A>G	c.(1504-1506)cAt>cGt	p.H502R	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.H502R|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.H502R|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.H502R	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	502					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CGTTTCTGCATGAGTTGCTTG	0.338																																						dbGAP											0													90.0	83.0	86.0					16																	53691441		2196	4300	6496	-	-	-	SO:0001583	missense	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1505A>G	16.37:g.53691441T>C	ENSP00000369257:p.His502Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.H502R	ENST00000379925.3	37	c.1505	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505567	0.85282	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.79247	-0.04;-1.25	6.03	6.03	0.97812	.	0.101437	0.64402	D	0.000002	D	0.85915	0.5808	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.76494	0.996;0.996;0.996;0.999	P;P;D;D	0.65233	0.883;0.858;0.913;0.933	D	0.85507	0.1195	10	0.42905	T	0.14	-14.9799	16.2338	0.82360	0.0:0.0:0.0:1.0	.	502;502;502;502	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	R	502	ENSP00000369257:H502R;ENSP00000262135:H502R	ENSP00000262135:H502R	H	-	2	0	RPGRIP1L	52248942	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.186000	0.77722	2.313000	0.78055	0.455000	0.32223	CAT	RPGRIP1L	-	NULL	ENSG00000103494		0.338	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	89	0.00	0	T	NM_015272		53691441	53691441	-1	no_errors	ENST00000379925	ensembl	human	known	69_37n	missense	125	12.59	18	SNP	1.000	C
RPL32	6161	genome.wustl.edu	37	3	12881679	12881679	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:12881679A>G	ENST00000429711.2	-	2	157	c.58T>C	c.(58-60)Ttc>Ctc	p.F20L	RPL32_ENST00000396957.1_Missense_Mutation_p.F20L|RPL32_ENST00000435983.1_Missense_Mutation_p.F20L|RPL32_ENST00000396953.2_Missense_Mutation_p.F20L|RPL32_ENST00000273223.6_Missense_Mutation_p.F20L|SNORA7A_ENST00000384765.1_RNA	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	20					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGCCGGATGAACTTCTTGGTT	0.502																																						dbGAP											0													181.0	203.0	195.0					3																	12881679		2203	4300	6503	-	-	-	SO:0001583	missense	0			CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.58T>C	3.37:g.12881679A>G	ENSP00000416429:p.Phe20Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4Q3|P02433	Missense_Mutation	SNP	pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e	p.F20L	ENST00000429711.2	37	c.58	CCDS2614.1	3	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383093	0.82792	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131;ENST00000434963	.	.	.	4.14	4.14	0.48551	Ribosomal protein L32e, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	M	0.87269	2.87	0.80722	D	1	P	0.45594	0.862	P	0.45829	0.494	T	0.76288	-0.3014	9	0.72032	D	0.01	.	11.1448	0.48424	1.0:0.0:0.0:0.0	.	20	P62910	RL32_HUMAN	L	20	.	ENSP00000339064:F20L	F	-	1	0	RPL32	12856679	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	8.835000	0.92100	1.716000	0.51395	0.383000	0.25322	TTC	RPL32	-	pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e	ENSG00000144713		0.502	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL32	HGNC	protein_coding	OTTHUMT00000252032.2	146	0.00	0	A	NM_000994		12881679	12881679	-1	no_errors	ENST00000396953	ensembl	human	known	69_37n	missense	197	15.68	37	SNP	1.000	G
RPS18	6222	genome.wustl.edu	37	6	33244011	33244011	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:33244011T>A	ENST00000439602.2	+	5	460	c.350T>A	c.(349-351)aTt>aAt	p.I117N	RPS18_ENST00000474973.1_Missense_Mutation_p.I47N|B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	117					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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CTGAAGAAGATTCGGGCCCAT	0.562																																						dbGAP											0													43.0	45.0	44.0					6																	33244011		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.350T>A	6.37:g.33244011T>A	ENSP00000393241:p.Ile117Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	pfam_Ribosomal_S13,superfamily_Ribosomal_S13-like_H2TH,pirsf_Ribosomal_S13,pfscan_Ribosomal_S13	p.I117N	ENST00000439602.2	37	c.350	CCDS4771.1	6	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652110	0.88056	.	.	ENSG00000231500	ENST00000439602;ENST00000474973	.	.	.	4.52	4.52	0.55395	Ribosomal protein S13-like, H2TH (1);	0.000000	0.85682	D	0.000000	T	0.80919	0.4716	H	0.95884	3.735	0.80722	D	1	P	0.43633	0.813	P	0.55391	0.775	D	0.85504	0.1193	9	0.62326	D	0.03	.	11.9045	0.52703	0.0:0.0:0.0:1.0	.	117	P62269	RS18_HUMAN	N	117;47	.	ENSP00000393241:I117N	I	+	2	0	RPS18	33351989	1.000000	0.71417	0.892000	0.35008	0.998000	0.95712	6.795000	0.75140	1.920000	0.55613	0.462000	0.41574	ATT	RPS18	-	pfam_Ribosomal_S13,superfamily_Ribosomal_S13-like_H2TH,pirsf_Ribosomal_S13,pfscan_Ribosomal_S13	ENSG00000231500		0.562	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS18	HGNC	protein_coding	OTTHUMT00000076059.2	31	0.00	0	T			33244011	33244011	+1	no_errors	ENST00000439602	ensembl	human	known	69_37n	missense	53	15.87	10	SNP	1.000	A
RTL1	388015	genome.wustl.edu	37	14	101350605	101350605	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:101350605T>C	ENST00000534062.1	-	1	579	c.521A>G	c.(520-522)tAc>tGc	p.Y174C	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	174					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CATTCGGAAGTACAGCGAGAT	0.517																																						dbGAP											0													214.0	182.0	192.0					14																	101350605		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.521A>G	14.37:g.101350605T>C	ENSP00000435342:p.Tyr174Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.Y174C	ENST00000534062.1	37	c.521	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	T	13.93	2.385152	0.42308	.	.	ENSG00000254656	ENST00000534062	T	0.23147	1.92	3.41	0.847	0.18961	.	.	.	.	.	T	0.19565	0.0470	N	0.19112	0.55	0.18873	N	0.999988	D	0.63046	0.992	P	0.49561	0.615	T	0.11616	-1.0580	9	0.49607	T	0.09	.	5.931	0.19138	0.4509:0.0:0.0:0.5491	.	174	E9PKS8	.	C	174	ENSP00000435342:Y174C	ENSP00000435342:Y174C	Y	-	2	0	RTL1	100420358	1.000000	0.71417	0.572000	0.28498	0.860000	0.49131	1.372000	0.34261	0.161000	0.19458	-0.531000	0.04308	TAC	RTL1	-	NULL	ENSG00000254656		0.517	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	134	0.00	0	T	NM_001134888		101350605	101350605	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	missense	166	25.23	56	SNP	0.708	C
RUFY2	55680	genome.wustl.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																						dbGAP											0													81.0	80.0	81.0					10																	70156583		1832	4087	5919	-	-	-	SO:0001589	frameshift_variant	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel	p.M153fs	ENST00000602465.1	37	c.457		10																																																																																			RUFY2	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000204130		0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1	72	0.00	0	T	NM_017987		70156583	70156583	-1	no_errors	ENST00000388768	ensembl	human	known	69_37n	frame_shift_del	58	25.00	20	DEL	0.996	-
RUNDC3A	10900	genome.wustl.edu	37	17	42390802	42390802	+	Missense_Mutation	SNP	G	G	A	rs563233289		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:42390802G>A	ENST00000426726.3	+	4	663	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R130Q|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R125Q|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	130	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCATGGATCCGGGTGGCACTG	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18674	0.0		0.0	False		,,,				2504	0.0				Pancreas(82;1061 1416 11136 20771 23901)	dbGAP											0													65.0	69.0	68.0					17																	42390802		2035	4190	6225	-	-	-	SO:0001583	missense	0			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.389G>A	17.37:g.42390802G>A	ENSP00000410862:p.Arg130Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.R130Q	ENST00000426726.3	37	c.389	CCDS45698.1	17	.	.	.	.	.	.	.	.	.	.	g	32	5.117967	0.94385	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.38240	1.15;1.15	4.56	4.56	0.56223	RUN (3);	0.000000	0.64402	D	0.000001	T	0.65512	0.2698	M	0.87456	2.885	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;0.996;0.996;0.996	T	0.73877	-0.3844	10	0.87932	D	0	-20.1616	16.0991	0.81158	0.0:0.0:1.0:0.0	.	130;130;125;130	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	Q	130	ENSP00000410862:R130Q;ENSP00000225441:R130Q	ENSP00000225441:R130Q	R	+	2	0	RUNDC3A	39746328	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.236000	0.95360	2.098000	0.63641	0.462000	0.41574	CGG	RUNDC3A	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000108309		0.597	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC3A	HGNC	protein_coding	OTTHUMT00000403173.2	31	0.00	0	G	NM_006695		42390802	42390802	+1	no_errors	ENST00000426726	ensembl	human	known	69_37n	missense	50	29.58	21	SNP	1.000	A
RUSC1	23623	genome.wustl.edu	37	1	155294982	155294982	+	Intron	DEL	G	G	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:155294982delG	ENST00000368352.5	+	4	1684				RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Intron|RUSC1_ENST00000292254.4_Intron|RUSC1_ENST00000368349.4_Intron	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAAGGTGGCTGGGGGGAGGCT	0.612											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													57.0	66.0	63.0					1																	155294982		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1533+13G>-	1.37:g.155294982delG		Somatic	1769	WXS	Illumina GAIIx	Phase_IV	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	DEL	-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			RUSC1	-	-	ENSG00000160753		0.612	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	40	0.00	0	G			155294982	155294982	+1	no_errors	ENST00000462780	ensembl	human	known	69_37n	rna	50	24.64	17	DEL	0.001	-
RYR1	6261	genome.wustl.edu	37	19	38998429	38998429	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:38998429G>A	ENST00000359596.3	+	58	8894	c.8894G>A	c.(8893-8895)cGc>cAc	p.R2965H	RYR1_ENST00000360985.3_Missense_Mutation_p.R2965H|RYR1_ENST00000355481.4_Missense_Mutation_p.R2965H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2965					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)	CAGCTGCTGCGCTGGATGGAC	0.557																																						dbGAP											0													132.0	118.0	122.0					19																	38998429		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.8894G>A	19.37:g.38998429G>A	ENSP00000352608:p.Arg2965His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R2965H	ENST00000359596.3	37	c.8894	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997351	0.35226	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.66815	-0.23;-0.23;-0.23	4.15	4.15	0.48705	.	0.098702	0.37577	U	0.002038	T	0.53578	0.1805	L	0.34521	1.04	0.32710	N	0.511718	D;P	0.52996	0.957;0.928	P;B	0.45449	0.481;0.288	T	0.64499	-0.6393	10	0.46703	T	0.11	.	5.3374	0.15965	0.2629:0.0:0.7371:0.0	.	2965;2965	P21817-2;P21817	.;RYR1_HUMAN	H	2965	ENSP00000352608:R2965H;ENSP00000347667:R2965H;ENSP00000354254:R2965H	ENSP00000347667:R2965H	R	+	2	0	RYR1	43690269	0.992000	0.36948	0.998000	0.56505	0.969000	0.65631	3.432000	0.52824	2.155000	0.67459	0.305000	0.20034	CGC	RYR1	-	NULL	ENSG00000196218		0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	80	0.00	0	G			38998429	38998429	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	77	31.25	35	SNP	0.935	A
RYR2	6262	genome.wustl.edu	37	1	237780728	237780728	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:237780728T>C	ENST00000366574.2	+	38	6175	c.5858T>C	c.(5857-5859)aTg>aCg	p.M1953T	RYR2_ENST00000542537.1_Missense_Mutation_p.M1937T|RYR2_ENST00000360064.6_Missense_Mutation_p.M1951T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1953	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTTAAACATGTCAGCTGCA	0.413																																						dbGAP											0													106.0	99.0	102.0					1																	237780728		2017	4201	6218	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5858T>C	1.37:g.237780728T>C	ENSP00000355533:p.Met1953Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.M1951T	ENST00000366574.2	37	c.5852	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.058475	0.76074	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72725	-0.68;-0.68;-0.68	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.71871	2.18	0.80722	D	1	D	0.67145	0.996	D	0.73380	0.98	D	0.85171	0.0998	10	0.87932	D	0	.	15.4156	0.74966	0.0:0.0:0.0:1.0	.	1953	Q92736	RYR2_HUMAN	T	1953;1951;1937	ENSP00000355533:M1953T;ENSP00000353174:M1951T;ENSP00000443798:M1937T	ENSP00000353174:M1951T	M	+	2	0	RYR2	235847351	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.036000	0.60181	0.528000	0.53228	ATG	RYR2	-	NULL	ENSG00000198626		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	49	0.00	0	T	NM_001035		237780728	237780728	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	75	13.79	12	SNP	1.000	C
S100A10	6281	genome.wustl.edu	37	1	151958689	151958689	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:151958689T>C	ENST00000368811.3	-	2	677	c.18A>G	c.(16-18)gaA>gaG	p.E6E	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Silent_p.E6E	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	6					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCATGGCGTGTTCCATTTGAG	0.408																																						dbGAP											0													184.0	171.0	176.0					1																	151958689		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.18A>G	1.37:g.151958689T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V8|P08206|Q5T1C5	Silent	SNP	pfam_S100_Ca-bd_sub	p.E6	ENST00000368811.3	37	c.18	CCDS1008.1	1																																																																																			S100A10	-	pfam_S100_Ca-bd_sub	ENSG00000197747		0.408	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A10	HGNC	protein_coding	OTTHUMT00000036673.1	133	0.00	0	T	NM_002966		151958689	151958689	-1	no_errors	ENST00000368809	ensembl	human	known	69_37n	silent	162	16.06	31	SNP	0.261	C
RYR2	6262	genome.wustl.edu	37	1	237893593	237893593	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:237893593T>C	ENST00000366574.2	+	77	11189	c.10872T>C	c.(10870-10872)taT>taC	p.Y3624Y	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.Y3608Y|RYR2_ENST00000360064.6_Silent_p.Y3622Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3624					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCAGGGATATGAAAAGTCTT	0.358																																						dbGAP											0													77.0	73.0	74.0					1																	237893593		1830	4086	5916	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10872T>C	1.37:g.237893593T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Y3622	ENST00000366574.2	37	c.10866	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	86	0.00	0	T	NM_001035		237893593	237893593	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	132	13.16	20	SNP	1.000	C
NAALADL1	10004	genome.wustl.edu	37	11	64811984	64811984	+	IGR	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:64811984A>C	ENST00000358658.3	-	0	2699				SAC3D1_ENST00000398846.1_Silent_p.R288R|SAC3D1_ENST00000531072.1_Silent_p.R288R|SAC3D1_ENST00000530213.1_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGATGGACTCAGGGAAGCACG	0.657																																						dbGAP											0													42.0	46.0	45.0					11																	64811984		1994	4150	6144	-	-	-	SO:0001628	intergenic_variant	0			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595		11.37:g.64811984A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R288	ENST00000358658.3	37	c.862	CCDS31604.1	11																																																																																			SAC3D1	-	NULL	ENSG00000168061		0.657	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAC3D1	HGNC	protein_coding	OTTHUMT00000385162.1	40	0.00	0	A	NM_005468		64811984	64811984	+1	no_errors	ENST00000398846	ensembl	human	known	69_37n	silent	41	35.38	23	SNP	0.000	C
SAGE1	55511	genome.wustl.edu	37	X	134991926	134991926	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:134991926A>G	ENST00000370709.3	+	13	1711	c.1711A>G	c.(1711-1713)Acc>Gcc	p.T571A	SAGE1_ENST00000535938.1_Missense_Mutation_p.T571A|SAGE1_ENST00000324447.3_Missense_Mutation_p.T571A|SAGE1_ENST00000537770.1_Missense_Mutation_p.T195A			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	571						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)					GGCCATGAGTACCAGGGATCA	0.408																																						dbGAP											0													145.0	125.0	132.0					X																	134991926		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1711A>G	X.37:g.134991926A>G	ENSP00000359743:p.Thr571Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JNW0	Missense_Mutation	SNP	NULL	p.T571A	ENST00000370709.3	37	c.1711	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	A	3.802	-0.041522	0.07452	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.30714	1.52;1.52;1.59;1.52	0.495	-0.991	0.10235	.	0.179987	0.34676	U	0.003779	T	0.20941	0.0504	L	0.29908	0.895	0.09310	N	1	B;P	0.35383	0.014;0.498	B;B	0.43478	0.045;0.421	T	0.21552	-1.0242	9	0.25106	T	0.35	.	.	.	.	.	195;571	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	A	571;571;195;571	ENSP00000323191:T571A;ENSP00000445959:T571A;ENSP00000438276:T195A;ENSP00000359743:T571A	ENSP00000323191:T571A	T	+	1	0	SAGE1	134819592	0.018000	0.18449	0.007000	0.13788	0.005000	0.04900	-0.780000	0.04654	-0.666000	0.05310	-0.892000	0.02923	ACC	SAGE1	-	NULL	ENSG00000181433		0.408	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	60	0.00	0	A	NM_018666		134991926	134991926	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	missense	89	11.88	12	SNP	0.007	G
SAMD15	161394	genome.wustl.edu	37	14	77844722	77844722	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:77844722A>G	ENST00000216471.4	+	1	1247	c.961A>G	c.(961-963)Act>Gct	p.T321A	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	321										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGAAAGTCTACTGATGAGAA	0.428																																						dbGAP											0													81.0	82.0	81.0					14																	77844722		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.961A>G	14.37:g.77844722A>G	ENSP00000216471:p.Thr321Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3P3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T321A	ENST00000216471.4	37	c.961	CCDS32126.1	14	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153849	0.38021	.	.	ENSG00000100583	ENST00000216471	T	0.27104	1.69	4.48	3.32	0.38043	.	0.000000	0.35096	N	0.003451	T	0.18002	0.0432	L	0.54323	1.7	0.23376	N	0.997801	B	0.29862	0.259	B	0.22386	0.039	T	0.16129	-1.0413	10	0.09084	T	0.74	0.0313	8.231	0.31597	0.6709:0.3291:0.0:0.0	.	321	Q9P1V8	SAM15_HUMAN	A	321	ENSP00000216471:T321A	ENSP00000216471:T321A	T	+	1	0	SAMD15	76914475	0.000000	0.05858	0.726000	0.30738	0.616000	0.37450	0.253000	0.18296	1.889000	0.54706	0.454000	0.30748	ACT	SAMD15	-	NULL	ENSG00000100583		0.428	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD15	HGNC	protein_coding	OTTHUMT00000394587.2	23	0.00	0	A	NM_001010860		77844722	77844722	+1	no_errors	ENST00000216471	ensembl	human	known	69_37n	missense	16	50.00	16	SNP	0.770	G
SAMD3	154075	genome.wustl.edu	37	6	130536412	130536412	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:130536412T>C	ENST00000368134.2	-	5	615	c.7A>G	c.(7-9)Acc>Gcc	p.T3A	SAMD3_ENST00000437477.2_Missense_Mutation_p.T3A|SAMD3_ENST00000457563.2_Missense_Mutation_p.T27A|SAMD3_ENST00000324172.6_Missense_Mutation_p.T3A|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000532763.1_Missense_Mutation_p.T3A|SAMD3_ENST00000439090.2_Missense_Mutation_p.T3A	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	3										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACTGACCAGGTTTCCATTGCT	0.378																																						dbGAP											0													78.0	79.0	78.0					6																	130536412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.7A>G	6.37:g.130536412T>C	ENSP00000357116:p.Thr3Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T3A	ENST00000368134.2	37	c.7	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937369	0.73557	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.49720	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.77	5.9	4.74	0.60224	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.085714	0.51477	D	0.000097	T	0.22859	0.0552	N	0.24115	0.695	0.32899	D	0.512851	P;B;B	0.42296	0.775;0.433;0.248	B;B;B	0.43658	0.426;0.084;0.079	T	0.12578	-1.0542	10	0.72032	D	0.01	.	10.6835	0.45828	0.0:0.0723:0.0:0.9277	.	27;3;3	B4DY20;Q8N6K7-2;Q8N6K7	.;.;SAMD3_HUMAN	A	3;27;3;3;3;3;3;3;3	ENSP00000357116:T3A;ENSP00000402092:T27A;ENSP00000403565:T3A;ENSP00000391163:T3A;ENSP00000436088:T3A;ENSP00000324874:T3A;ENSP00000436115:T3A;ENSP00000435875:T3A;ENSP00000434139:T3A	ENSP00000324874:T3A	T	-	1	0	SAMD3	130578105	0.988000	0.35896	0.997000	0.53966	0.989000	0.77384	0.695000	0.25527	1.055000	0.40461	0.523000	0.50628	ACC	SAMD3	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	ENSG00000164483		0.378	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	107	0.00	0	T	NM_152552		130536412	130536412	-1	no_errors	ENST00000368134	ensembl	human	known	69_37n	missense	109	32.10	52	SNP	1.000	C
SAMD9	54809	genome.wustl.edu	37	7	92731303	92731303	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:92731303T>C	ENST00000379958.2	-	3	4377	c.4108A>G	c.(4108-4110)Act>Gct	p.T1370A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1370						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGAGAAAAGTATATTCGTTC	0.358																																						dbGAP											0													109.0	112.0	111.0					7																	92731303		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4108A>G	7.37:g.92731303T>C	ENSP00000369292:p.Thr1370Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T1370A	ENST00000379958.2	37	c.4108	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	0	-2.865327	0.00064	.	.	ENSG00000205413	ENST00000379958	T	0.21543	2.0	4.41	-1.31	0.09230	.	1.348350	0.05216	N	0.507733	T	0.12390	0.0301	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27297	-1.0078	10	0.19590	T	0.45	-0.1161	1.4653	0.02405	0.1177:0.233:0.2409:0.4084	.	1370	Q5K651	SAMD9_HUMAN	A	1370	ENSP00000369292:T1370A	ENSP00000369292:T1370A	T	-	1	0	SAMD9	92569239	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.433000	0.06948	-0.620000	0.05641	-2.354000	0.00241	ACT	SAMD9	-	NULL	ENSG00000205413		0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	86	0.00	0	T	NM_017654		92731303	92731303	-1	no_errors	ENST00000379958	ensembl	human	known	69_37n	missense	113	16.91	23	SNP	0.000	C
SAMD9	54809	genome.wustl.edu	37	7	92731998	92731998	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:92731998T>C	ENST00000379958.2	-	3	3682	c.3413A>G	c.(3412-3414)aAc>aGc	p.N1138S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1138						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTTCCTCCGTTTTCCTCTAT	0.373																																						dbGAP											0													189.0	188.0	189.0					7																	92731998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3413A>G	7.37:g.92731998T>C	ENSP00000369292:p.Asn1138Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.N1138S	ENST00000379958.2	37	c.3413	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	2.327	-0.354192	0.05173	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.22743	1.94;2.75	4.79	2.17	0.27698	.	0.403537	0.20105	N	0.099153	T	0.14485	0.0350	L	0.48642	1.525	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.16394	-1.0404	10	0.30854	T	0.27	-15.094	2.6386	0.04965	0.149:0.0847:0.1549:0.6114	.	1138	Q5K651	SAMD9_HUMAN	S	1138	ENSP00000369292:N1138S;ENSP00000414529:N1138S	ENSP00000369292:N1138S	N	-	2	0	SAMD9	92569934	0.015000	0.18098	0.097000	0.21041	0.031000	0.12232	0.482000	0.22276	0.826000	0.34661	0.496000	0.49642	AAC	SAMD9	-	NULL	ENSG00000205413		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	123	0.00	0	T	NM_017654		92731998	92731998	-1	no_errors	ENST00000379958	ensembl	human	known	69_37n	missense	161	22.22	46	SNP	0.002	C
SARS	6301	genome.wustl.edu	37	1	109779110	109779110	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:109779110G>A	ENST00000234677.2	+	9	1272	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	SARS_ENST00000369923.4_Silent_p.T399T|SARS_ENST00000468588.1_3'UTR	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	399					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.T399T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CTAATTGCACGGATTACCAGG	0.542																																						dbGAP											1	Substitution - coding silent(1)	ovary(1)											68.0	71.0	70.0					1																	109779110		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1197G>A	1.37:g.109779110G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa	p.T399	ENST00000234677.2	37	c.1197	CCDS795.1	1																																																																																			SARS	-	pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa	ENSG00000031698		0.542	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	71	0.00	0	G	NM_006513		109779110	109779110	+1	no_errors	ENST00000369923	ensembl	human	known	69_37n	silent	75	27.62	29	SNP	0.818	A
SARS	6301	genome.wustl.edu	37	1	109780392	109780392	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:109780392T>A	ENST00000234677.2	+	11	1502	c.1427T>A	c.(1426-1428)aTt>aAt	p.I476N	SARS_ENST00000369923.4_Missense_Mutation_p.I498N|SARS_ENST00000468588.1_3'UTR	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	476					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CCTGCGCCCATTGAGCAGGAG	0.507																																						dbGAP											0													136.0	121.0	126.0					1																	109780392		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1427T>A	1.37:g.109780392T>A	ENSP00000234677:p.Ile476Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa	p.I498N	ENST00000234677.2	37	c.1493	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	N	22.4	4.287893	0.80803	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.78126	-1.11;-1.15	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.82797	0.5115	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.62365	0.972;0.984;0.991;0.972	P;D;D;P	0.64321	0.866;0.924;0.924;0.866	D	0.84547	0.0642	10	0.62326	D	0.03	-13.8659	16.3083	0.82859	0.0:0.0:0.0:1.0	.	473;476;498;476	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	N	476;498	ENSP00000234677:I476N;ENSP00000358939:I498N	ENSP00000234677:I476N	I	+	2	0	SARS	109581915	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.606000	0.67641	2.330000	0.79161	0.477000	0.44152	ATT	SARS	-	NULL	ENSG00000031698		0.507	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	93	0.00	0	T	NM_006513		109780392	109780392	+1	no_errors	ENST00000369923	ensembl	human	known	69_37n	missense	109	22.14	31	SNP	1.000	A
SATB1	6304	genome.wustl.edu	37	3	18438674	18438674	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:18438674T>C	ENST00000338745.6	-	6	2482	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	SATB1_ENST00000417717.2_Missense_Mutation_p.M250V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'Flank|SATB1_ENST00000454909.2_Missense_Mutation_p.M250V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	250	Nuclear matrix targeting sequence (NMTS).				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGCTTACCCATCATATCTTTT	0.383																																						dbGAP											0													249.0	206.0	221.0					3																	18438674		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.748A>G	3.37:g.18438674T>C	ENSP00000341024:p.Met250Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.M250V	ENST00000338745.6	37	c.748	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	T	10.71	1.425633	0.25639	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.75589	-0.95;-0.95;-0.95	5.9	4.7	0.59300	.	0.221884	0.56097	D	0.000039	T	0.64800	0.2631	L	0.40543	1.245	0.80722	D	1	B;B	0.20671	0.047;0.019	B;B	0.17722	0.019;0.006	T	0.59952	-0.7357	10	0.19147	T	0.46	.	14.4449	0.67342	0.0:0.0:0.1304:0.8696	.	250;250	Q01826-2;Q01826	.;SATB1_HUMAN	V	250	ENSP00000341024:M250V;ENSP00000399708:M250V;ENSP00000399518:M250V	ENSP00000341024:M250V	M	-	1	0	SATB1	18413678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.955000	0.70306	2.257000	0.74773	0.528000	0.53228	ATG	SATB1	-	superfamily_Lambda_DNA-bd_dom	ENSG00000182568		0.383	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	222	0.45	1	T	NM_001131010		18438674	18438674	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	missense	281	25.86	98	SNP	1.000	C
SCN10A	6336	genome.wustl.edu	37	3	38766669	38766669	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:38766669G>C	ENST00000449082.2	-	17	3223	c.3224C>G	c.(3223-3225)gCt>gGt	p.A1075G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1075					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCTACCTCAGCAGGGACCTG	0.592																																						dbGAP											0													67.0	66.0	66.0					3																	38766669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3224C>G	3.37:g.38766669G>C	ENSP00000390600:p.Ala1075Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.A1075G	ENST00000449082.2	37	c.3224	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	7.081	0.570168	0.13560	.	.	ENSG00000185313	ENST00000449082	D	0.95788	-3.81	4.59	2.76	0.32466	Sodium ion transport-associated (1);	6.326310	0.00166	N	0.000001	D	0.89223	0.6654	N	0.05078	-0.115	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.80374	-0.1409	10	0.41790	T	0.15	.	6.444	0.21865	0.1044:0.2026:0.693:0.0	.	1075	Q9Y5Y9	SCNAA_HUMAN	G	1075	ENSP00000390600:A1075G	ENSP00000390600:A1075G	A	-	2	0	SCN10A	38741673	0.709000	0.27886	0.016000	0.15963	0.089000	0.18198	1.845000	0.39279	0.634000	0.30469	0.555000	0.69702	GCT	SCN10A	-	pfam_Na_trans_assoc	ENSG00000185313		0.592	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	32	0.00	0	G	NM_006514		38766669	38766669	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	0.039	C
SCN10A	6336	genome.wustl.edu	37	3	38802201	38802201	+	Frame_Shift_Del	DEL	G	G	-	rs192946276		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:38802201delG	ENST00000449082.2	-	7	920	c.921delC	c.(919-921)cccfs	p.P307fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	307					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CACACAGTAAGGGGTCAGAAG	0.458																																						dbGAP											0													138.0	121.0	126.0					3																	38802201		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.921delC	3.37:g.38802201delG	ENSP00000390600:p.Pro307fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.L308fs	ENST00000449082.2	37	c.921	CCDS33736.1	3																																																																																			SCN10A	-	pfam_Ion_trans_dom	ENSG00000185313		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	74	0.00	0	G	NM_006514		38802201	38802201	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	frame_shift_del	60	36.17	34	DEL	0.988	-
SCRIB	23513	genome.wustl.edu	37	8	144896281	144896281	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:144896281delA	ENST00000320476.3	-	2	173	c.167delT	c.(166-168)ttcfs	p.F56fs	SCRIB_ENST00000377533.3_5'UTR|PUF60_ENST00000524570.1_5'Flank|SCRIB_ENST00000356994.2_Frame_Shift_Del_p.F56fs|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	56	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				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)			CAGCAGCCGGAAAAAAGGCTG	0.602																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0													42.0	35.0	37.0					8																	144896281		2168	4249	6417	-	-	-	SO:0001589	frameshift_variant	0			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.167delT	8.37:g.144896281delA	ENSP00000322938:p.Phe56fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Frame_Shift_Del	DEL	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.F56fs	ENST00000320476.3	37	c.167	CCDS6411.1	8																																																																																			SCRIB	-	NULL	ENSG00000180900		0.602	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	34	0.00	0	A	NM_015356		144896281	144896281	-1	no_errors	ENST00000320476	ensembl	human	known	69_37n	frame_shift_del	38	15.56	7	DEL	1.000	-
SCUBE2	57758	genome.wustl.edu	37	11	9051439	9051439	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:9051439T>C	ENST00000309263.3	-	18	2480	c.2408A>G	c.(2407-2409)cAg>cGg	p.Q803R	SCUBE2_ENST00000457346.2_Missense_Mutation_p.Q832R|SCUBE2_ENST00000450649.2_Missense_Mutation_p.Q677R|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.Q775R			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	803						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACTTTTACACTGGGTTATGTT	0.483																																						dbGAP											0													195.0	194.0	195.0					11																	9051439		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2408A>G	11.37:g.9051439T>C	ENSP00000310658:p.Gln803Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.Q832R	ENST00000309263.3	37	c.2495		11	.	.	.	.	.	.	.	.	.	.	T	7.021	0.558691	0.13436	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.19	5.19	0.71726	Tyrosine-protein kinase ephrin type A/B receptor-like (1);CUB (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	M	0.83012	2.62	0.80722	D	1	P;P;P	0.46142	0.873;0.837;0.866	B;P;P	0.50490	0.439;0.642;0.593	T	0.33523	-0.9865	10	0.66056	D	0.02	.	15.0403	0.71785	0.0:0.0:0.0:1.0	.	677;775;803	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	R	832;803;677;775	ENSP00000390481:Q832R;ENSP00000310658:Q803R;ENSP00000415187:Q677R;ENSP00000429969:Q775R	ENSP00000310658:Q803R	Q	-	2	0	SCUBE2	9008015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.946000	0.87746	1.956000	0.56807	0.402000	0.26972	CAG	SCUBE2	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt	ENSG00000175356		0.483	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	124	0.00	0	T	NM_020974		9051439	9051439	-1	no_errors	ENST00000457346	ensembl	human	known	69_37n	missense	131	25.57	45	SNP	1.000	C
SCYL1	57410	genome.wustl.edu	37	11	65299138	65299138	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:65299138T>C	ENST00000270176.5	+	8	1177	c.1100T>C	c.(1099-1101)aTc>aCc	p.I367T	SCYL1_ENST00000420247.2_Missense_Mutation_p.I367T|SCYL1_ENST00000279270.6_Missense_Mutation_p.I367T|SCYL1_ENST00000525364.1_Missense_Mutation_p.I367T|SCYL1_ENST00000524944.1_Missense_Mutation_p.I367T|SCYL1_ENST00000527009.1_Missense_Mutation_p.I224T|SCYL1_ENST00000533862.1_Missense_Mutation_p.I367T	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	367					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GCCATGCGCATCCGCCTCCTG	0.617																																						dbGAP											0													67.0	68.0	68.0					11																	65299138		2146	4259	6405	-	-	-	SO:0001583	missense	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1100T>C	11.37:g.65299138T>C	ENSP00000270176:p.Ile367Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.I367T	ENST00000270176.5	37	c.1100	CCDS41672.1	11	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066182	0.55539	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.231005	0.44285	D	0.000470	T	0.25717	0.0626	M	0.73962	2.25	0.58432	D	0.999992	B;B;B;B;B	0.26363	0.006;0.12;0.147;0.002;0.021	B;B;B;B;B	0.32022	0.017;0.139;0.098;0.008;0.032	T	0.04855	-1.0922	10	0.62326	D	0.03	-1.5865	13.3064	0.60355	0.0:0.0:0.0:1.0	.	367;367;367;367;367	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	T	367;367;367;367;367;367;367;367;224	ENSP00000270176:I367T;ENSP00000431635:I367T;ENSP00000408192:I367T;ENSP00000437254:I367T;ENSP00000433450:I367T;ENSP00000279270:I367T;ENSP00000432175:I367T;ENSP00000436993:I224T	ENSP00000270176:I367T	I	+	2	0	SCYL1	65055714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.943000	0.75934	2.108000	0.64289	0.529000	0.55759	ATC	SCYL1	-	superfamily_ARM-type_fold	ENSG00000142186		0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	61	0.00	0	T	NM_020680		65299138	65299138	+1	no_errors	ENST00000270176	ensembl	human	known	69_37n	missense	78	16.13	15	SNP	1.000	C
SEC11A	23478	genome.wustl.edu	37	15	85213987	85213987	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:85213987G>A	ENST00000268220.7	-	5	1098	c.458C>T	c.(457-459)aCg>aTg	p.T153M	SEC11A_ENST00000560266.1_3'UTR|SEC11A_ENST00000455959.3_Missense_Mutation_p.T127M|SEC11A_ENST00000558134.1_Intron	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	153					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CATGAGGATCGTCACAATTCC	0.333																																						dbGAP											0													26.0	23.0	24.0					15																	85213987		1809	4059	5868	-	-	-	SO:0001583	missense	0			AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.458C>T	15.37:g.85213987G>A	ENSP00000268220:p.Thr153Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B	p.T153M	ENST00000268220.7	37	c.458	CCDS45340.1	15	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263786	0.80358	.	.	ENSG00000140612	ENST00000268220;ENST00000455959	.	.	.	5.94	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.90764	0.4667	9	0.87932	D	0	.	13.2235	0.59903	0.0769:0.0:0.9231:0.0	.	153	P67812	SC11A_HUMAN	M	153;127	.	ENSP00000268220:T153M	T	-	2	0	SEC11A	83014991	1.000000	0.71417	0.954000	0.39281	0.970000	0.65996	7.519000	0.81809	1.522000	0.49001	0.650000	0.86243	ACG	SEC11A	-	tigrfam_Peptidase_S26B	ENSG00000140612		0.333	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC11A	HGNC	protein_coding	OTTHUMT00000418777.1	36	0.00	0	G	NM_014300		85213987	85213987	-1	no_errors	ENST00000268220	ensembl	human	known	69_37n	missense	41	48.10	38	SNP	0.998	A
SEC16B	89866	genome.wustl.edu	37	1	177898979	177898979	+	3'UTR	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:177898979A>G	ENST00000308284.6	-	0	3286				SEC16B_ENST00000495165.1_5'UTR|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						TGAGCCTGGGACGTGTGTTTA	0.532																																						dbGAP											0													93.0	99.0	97.0					1																	177898979		2009	4183	6192	-	-	-	SO:0001624	3_prime_UTR_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.*14T>C	1.37:g.177898979A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	RNA	SNP	-	NULL	ENST00000308284.6	37	NULL	CCDS44281.1	1																																																																																			SEC16B	-	-	ENSG00000120341		0.532	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16	107	0.00	0	A	NM_033127		177898979	177898979	-1	no_errors	ENST00000327037	ensembl	human	known	69_37n	rna	145	21.62	40	SNP	0.001	G
SEMG1	6406	genome.wustl.edu	37	20	43836194	43836194	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:43836194G>C	ENST00000372781.3	+	2	313	c.256G>C	c.(256-258)Gat>Cat	p.D86H	SEMG1_ENST00000244069.6_Missense_Mutation_p.D86H	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	86	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCAGCAATATGATTTGAATGC	0.388																																						dbGAP											0													154.0	137.0	142.0					20																	43836194		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.256G>C	20.37:g.43836194G>C	ENSP00000361867:p.Asp86His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	pfam_Semenogelin	p.D86H	ENST00000372781.3	37	c.256	CCDS13345.1	20	.	.	.	.	.	.	.	.	.	.	G	3.174	-0.169347	0.06461	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08984	3.03;3.03	0.807	-1.61	0.08399	.	.	.	.	.	T	0.17152	0.0412	M	0.68317	2.08	0.09310	N	1	D;B;D	0.56287	0.96;0.361;0.975	P;B;P	0.60012	0.731;0.047;0.867	T	0.26052	-1.0114	9	0.62326	D	0.03	.	3.452	0.07502	0.3081:0.0:0.486:0.2059	.	86;86;86	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	H	86	ENSP00000244069:D86H;ENSP00000361867:D86H	ENSP00000244069:D86H	D	+	1	0	SEMG1	43269608	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.919000	0.01572	-2.883000	0.00318	-2.680000	0.00142	GAT	SEMG1	-	pfam_Semenogelin	ENSG00000124233		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEMG1	HGNC	protein_coding	OTTHUMT00000079416.3	100	0.00	0	G	NM_003007		43836194	43836194	+1	no_errors	ENST00000372781	ensembl	human	known	69_37n	missense	76	38.21	47	SNP	0.000	C
SENP7	57337	genome.wustl.edu	37	3	101062691	101062691	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:101062691A>G	ENST00000394095.2	-	14	1998	c.1945T>C	c.(1945-1947)Tta>Cta	p.L649L	SENP7_ENST00000314261.7_Silent_p.L583L|SENP7_ENST00000394091.1_Silent_p.L485L|SENP7_ENST00000358203.3_Silent_p.L485L|SENP7_ENST00000394094.2_Silent_p.L584L|SENP7_ENST00000348610.3_Silent_p.L616L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	649						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAAAGCTCTAATTCTCCACTG	0.338																																						dbGAP											0													65.0	59.0	61.0					3																	101062691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1945T>C	3.37:g.101062691A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L649	ENST00000394095.2	37	c.1945	CCDS2941.2	3																																																																																			SENP7	-	NULL	ENSG00000138468		0.338	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	41	0.00	0	A	NM_020654		101062691	101062691	-1	no_errors	ENST00000394095	ensembl	human	known	69_37n	silent	65	27.78	25	SNP	0.148	G
SENP7	57337	genome.wustl.edu	37	3	101083810	101083810	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:101083810T>C	ENST00000394095.2	-	10	1397	c.1344A>G	c.(1342-1344)ggA>ggG	p.G448G	SENP7_ENST00000314261.7_Silent_p.G382G|SENP7_ENST00000394091.1_Silent_p.G284G|SENP7_ENST00000358203.3_Silent_p.G284G|SENP7_ENST00000394094.2_Silent_p.G383G|SENP7_ENST00000348610.3_Silent_p.G415G	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	448						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTCAACAGGTCCTTCTTCAT	0.303																																						dbGAP											0													93.0	88.0	90.0					3																	101083810		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1344A>G	3.37:g.101083810T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.G448	ENST00000394095.2	37	c.1344	CCDS2941.2	3																																																																																			SENP7	-	NULL	ENSG00000138468		0.303	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	98	0.00	0	T	NM_020654		101083810	101083810	-1	no_errors	ENST00000394095	ensembl	human	known	69_37n	silent	120	24.84	40	SNP	0.850	C
SEPT1	1731	genome.wustl.edu	37	16	30389784	30389784	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:30389784delC	ENST00000571393.1	-	12	1261	c.1075delG	c.(1075-1077)gccfs	p.A359fs	SEPT1_ENST00000605106.1_Frame_Shift_Del_p.A364fs|SEPT1_ENST00000321367.3_Frame_Shift_Del_p.A406fs			Q8WYJ6	SEPT1_HUMAN	septin 1	359					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCGCCCTGGGCCTGGCTCTGC	0.672																																						dbGAP											0													31.0	26.0	28.0					16																	30389784		2196	4300	6496	-	-	-	SO:0001589	frameshift_variant	0			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.1075delG	16.37:g.30389784delC	ENSP00000460441:p.Ala359fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Frame_Shift_Del	DEL	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.A364fs	ENST00000571393.1	37	c.1090		16																																																																																			SEPT1	-	pirsf_Septin	ENSG00000180096		0.672	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		39	0.00	0	C	NM_052838		30389784	30389784	-1	no_errors	ENST00000321367	ensembl	human	known	69_37n	frame_shift_del	35	11.36	5	DEL	0.988	-
SERPINB2	5055	genome.wustl.edu	37	18	61569726	61569726	+	Missense_Mutation	SNP	T	T	A	rs370190157|rs35633648		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:61569726T>A	ENST00000299502.4	+	7	847	c.767T>A	c.(766-768)cTc>cAc	p.L256H	SERPINB2_ENST00000457692.1_Missense_Mutation_p.L256H|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	256					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	ATTCTAGAACTCCCATATGCT	0.408																																						dbGAP											0													150.0	133.0	139.0					18																	61569726		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.767T>A	18.37:g.61569726T>A	ENSP00000299502:p.Leu256His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E96	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L256H	ENST00000299502.4	37	c.767	CCDS11989.1	18	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686270	0.88639	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.91180	-2.8;-2.8	5.27	5.27	0.74061	Serpin domain (3);	0.189783	0.47455	D	0.000226	D	0.97228	0.9094	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.98674	1.0689	10	0.87932	D	0	.	14.6629	0.68885	0.0:0.0:0.0:1.0	.	256;256	B2R7Y0;P05120	.;PAI2_HUMAN	H	256	ENSP00000299502:L256H;ENSP00000401645:L256H	ENSP00000299502:L256H	L	+	2	0	SERPINB2	59720706	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.586000	0.82596	2.113000	0.64589	0.455000	0.32223	CTC	SERPINB2	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000197632		0.408	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB2	HGNC	protein_coding	OTTHUMT00000134009.1	97	0.00	0	T	NM_002575		61569726	61569726	+1	no_errors	ENST00000299502	ensembl	human	known	69_37n	missense	115	28.83	47	SNP	1.000	A
SETD2	29072	genome.wustl.edu	37	3	47129671	47129671	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:47129671T>C	ENST00000409792.3	-	10	5251	c.5209A>G	c.(5209-5211)Agc>Ggc	p.S1737G	snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1737					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CGGGATAAGCTGAGCACCTGG	0.383			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													122.0	128.0	126.0					3																	47129671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5209A>G	3.37:g.47129671T>C	ENSP00000386759:p.Ser1737Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1737G	ENST00000409792.3	37	c.5209	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184555	0.78677	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.89485	-2.52	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000007	D	0.91858	0.7423	L	0.50333	1.59	0.48452	D	0.999657	D;D	0.69078	0.997;0.997	D;D	0.70716	0.97;0.97	D	0.91752	0.5413	10	0.46703	T	0.11	.	14.2024	0.65712	0.0:0.0:0.0:1.0	.	1737;1737	F2Z317;Q9BYW2	.;SETD2_HUMAN	G	1737	ENSP00000386759:S1737G	ENSP00000386759:S1737G	S	-	1	0	SETD2	47104675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.739000	0.62080	1.995000	0.58328	0.528000	0.53228	AGC	SETD2	-	NULL	ENSG00000181555		0.383	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	63	0.00	0	T	NM_014159		47129671	47129671	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	missense	73	37.07	43	SNP	1.000	C
SF3A1	10291	genome.wustl.edu	37	22	30736331	30736331	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:30736331T>C	ENST00000215793.8	-	9	1383	c.1229A>G	c.(1228-1230)tAt>tGt	p.Y410C	SF3A1_ENST00000439242.1_Missense_Mutation_p.Y345C	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	410					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGACACAAGATACTCATCTGG	0.547																																						dbGAP											0													67.0	68.0	67.0					22																	30736331		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1229A>G	22.37:g.30736331T>C	ENSP00000215793:p.Tyr410Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAW1	Missense_Mutation	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.Y410C	ENST00000215793.8	37	c.1229	CCDS13875.1	22	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192061	0.58017	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.32753	1.44;1.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.71036	2.16	0.80722	D	1	D	0.55172	0.97	P	0.49361	0.608	T	0.41627	-0.9498	10	0.49607	T	0.09	-15.0266	16.6288	0.85011	0.0:0.0:0.0:1.0	.	410	Q15459	SF3A1_HUMAN	C	345;410;307;106	ENSP00000390336:Y345C;ENSP00000215793:Y410C	ENSP00000215793:Y410C	Y	-	2	0	SF3A1	29066331	1.000000	0.71417	0.923000	0.36655	0.917000	0.54804	5.975000	0.70475	2.326000	0.78906	0.533000	0.62120	TAT	SF3A1	-	pfam_PRP21-like	ENSG00000099995		0.547	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	56	0.00	0	T	NM_005877		30736331	30736331	-1	no_errors	ENST00000215793	ensembl	human	known	69_37n	missense	53	33.75	27	SNP	1.000	C
SF3A2	8175	genome.wustl.edu	37	19	2247002	2247002	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:2247002A>G	ENST00000221494.5	+	7	945	c.527A>G	c.(526-528)tAc>tGc	p.Y176C	AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	176					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		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)		GCCGAGCCCTACGAGACCATT	0.637																																						dbGAP											0													53.0	54.0	54.0					19																	2247002		2203	4300	6503	-	-	-	SO:0001583	missense	0			L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.527A>G	19.37:g.2247002A>G	ENSP00000221494:p.Tyr176Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBU1|D6W605|O75245	Missense_Mutation	SNP	smart_Znf_U1,pfscan_Znf_C2H2_matrin	p.Y176C	ENST00000221494.5	37	c.527	CCDS12084.1	19	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356120	0.61293	.	.	ENSG00000104897	ENST00000221494	D	0.89875	-2.58	4.75	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	M	0.76170	2.325	0.80722	D	1	P	0.51351	0.944	P	0.53006	0.715	D	0.91342	0.5098	10	0.87932	D	0	-13.137	10.002	0.41935	0.8493:0.0:0.0:0.1507	.	176	Q15428	SF3A2_HUMAN	C	176	ENSP00000221494:Y176C	ENSP00000221494:Y176C	Y	+	2	0	SF3A2	2198002	1.000000	0.71417	0.979000	0.43373	0.569000	0.35902	8.359000	0.90093	1.767000	0.52121	0.454000	0.30748	TAC	SF3A2	-	NULL	ENSG00000104897		0.637	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A2	HGNC	protein_coding	OTTHUMT00000451268.3	32	0.00	0	A			2247002	2247002	+1	no_errors	ENST00000221494	ensembl	human	known	69_37n	missense	31	15.79	6	SNP	0.998	G
SF3B3	23450	genome.wustl.edu	37	16	70566408	70566408	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:70566408A>G	ENST00000302516.5	+	5	808	c.597A>G	c.(595-597)gaA>gaG	p.E199E	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	199					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAACAGGGGAAGCAGCAGCTA	0.428																																						dbGAP											0													163.0	144.0	150.0					16																	70566408		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.597A>G	16.37:g.70566408A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.E199	ENST00000302516.5	37	c.597	CCDS10894.1	16																																																																																			SF3B3	-	NULL	ENSG00000189091		0.428	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	77	0.00	0	A	NM_012426		70566408	70566408	+1	no_errors	ENST00000302516	ensembl	human	known	69_37n	silent	102	17.07	21	SNP	1.000	G
SF3B3	23450	genome.wustl.edu	37	16	70566471	70566471	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:70566471G>T	ENST00000302516.5	+	5	871	c.660G>T	c.(658-660)gtG>gtT	p.V220V	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	220					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TAAATCATGTGGTCCGAAAAT	0.418																																						dbGAP											0													188.0	164.0	172.0					16																	70566471		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.660G>T	16.37:g.70566471G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.V220	ENST00000302516.5	37	c.660	CCDS10894.1	16																																																																																			SF3B3	-	NULL	ENSG00000189091		0.418	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	90	0.00	0	G	NM_012426		70566471	70566471	+1	no_errors	ENST00000302516	ensembl	human	known	69_37n	silent	109	19.26	26	SNP	1.000	T
SFTPB	6439	genome.wustl.edu	37	2	85894924	85894924	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:85894924A>G	ENST00000519937.2	-	2	92	c.73T>C	c.(73-75)Tgg>Cgg	p.W25R	SFTPB_ENST00000409383.1_Missense_Mutation_p.W37R|SFTPB_ENST00000342375.3_Missense_Mutation_p.W25R|SFTPB_ENST00000393822.3_Missense_Mutation_p.W37R			P07988	PSPB_HUMAN	surfactant protein B	25	Saposin A-type. {ECO:0000255|PROSITE- ProRule:PRU00414}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GAGGTGGTCCAGGCAGCTGTG	0.577																																						dbGAP											0													52.0	49.0	50.0					2																	85894924		2203	4300	6503	-	-	-	SO:0001583	missense	0			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.73T>C	2.37:g.85894924A>G	ENSP00000428719:p.Trp25Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96R04	Missense_Mutation	SNP	pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin	p.W37R	ENST00000519937.2	37	c.109		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.021|0.021	-1.428824|-1.428824	0.01117|0.01117	.|.	.|.	ENSG00000168878|ENSG00000168878	ENST00000428225|ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	.|T;T;T;T	.|0.67698	.|0.76;-0.09;-0.28;-0.09	4.62|4.62	-9.23|-9.23	0.00672|0.00672	.|Saposin type A (1);	.|2.115700	.|0.02036	.|N	.|0.048926	T|T	0.39172|0.39172	0.1068|0.1068	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.34825|0.34825	-0.9813|-0.9813	5|10	.|0.12103	.|T	.|0.63	0.7805|0.7805	5.1641|5.1641	0.15077|0.15077	0.1082:0.5731:0.2385:0.0802|0.1082:0.5731:0.2385:0.0802	.|.	.|37;25	.|D6W5L6;P07988	.|.;PSPB_HUMAN	P|R	21|27;37;25;37;25	.|ENSP00000428719:W27R;ENSP00000377409:W37R;ENSP00000345161:W25R;ENSP00000386346:W37R	.|ENSP00000345161:W25R	L|W	-|-	2|1	0|0	SFTPB|SFTPB	85748435|85748435	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-3.078000|-3.078000	0.00615|0.00615	-3.209000|-3.209000	0.00215|0.00215	-1.333000|-1.333000	0.01266|0.01266	CTG|TGG	SFTPB	-	pfscan_SapA,prints_Saposin	ENSG00000168878		0.577	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	SFTPB	HGNC	protein_coding	OTTHUMT00000252499.3	21	0.00	0	A	NM_198843		85894924	85894924	-1	no_errors	ENST00000393822	ensembl	human	known	69_37n	missense	29	40.82	20	SNP	0.000	G
SGCE	8910	genome.wustl.edu	37	7	94259146	94259146	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:94259146A>G	ENST00000265735.7	-	2	227	c.117T>C	c.(115-117)agT>agC	p.S39S	SGCE_ENST00000445866.2_Silent_p.S39S|SGCE_ENST00000447873.1_Silent_p.S39S|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000428696.2_Silent_p.S39S|SGCE_ENST00000415788.2_Silent_p.S75S	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	39					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGGAGAAAATACTGTACACTG	0.393																																						dbGAP											0													86.0	89.0	88.0					7																	94259146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.117T>C	7.37:g.94259146A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.S39	ENST00000265735.7	37	c.117	CCDS5637.1	7																																																																																			SGCE	-	pfam_Sarcoglycan_2	ENSG00000127990		0.393	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCE	HGNC	protein_coding	OTTHUMT00000255251.2	61	0.00	0	A			94259146	94259146	-1	no_errors	ENST00000445866	ensembl	human	known	69_37n	silent	66	29.03	27	SNP	0.982	G
SGPP2	130367	genome.wustl.edu	37	2	223389675	223389675	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:223389675T>C	ENST00000321276.7	+	4	657	c.571T>C	c.(571-573)Ttg>Ctg	p.L191L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	191					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TCCATTTGTGTTGGGACTGGT	0.463																																						dbGAP											0													248.0	190.0	209.0					2																	223389675		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.571T>C	2.37:g.223389675T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KPB4|Q8N8Q6	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L191	ENST00000321276.7	37	c.571	CCDS2453.1	2																																																																																			SGPP2	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000163082		0.463	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP2	HGNC	protein_coding	OTTHUMT00000256856.2	277	0.36	1	T			223389675	223389675	+1	no_errors	ENST00000321276	ensembl	human	known	69_37n	silent	369	15.91	70	SNP	0.084	C
SH3D19	152503	genome.wustl.edu	37	4	152080503	152080503	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:152080503A>G	ENST00000409252.2	-	8	1511	c.804T>C	c.(802-804)tgT>tgC	p.C268C	SH3D19_ENST00000424281.1_Splice_Site_p.G232G|SH3D19_ENST00000455740.1_Splice_Site_p.C268C|SH3D19_ENST00000304527.4_Splice_Site_p.C268C|SH3D19_ENST00000427414.2_Splice_Site_p.G232G|SH3D19_ENST00000514152.1_Splice_Site_p.C268C|SH3D19_ENST00000409598.4_Splice_Site_p.C268C			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	268	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCTCATGTAAACCTGGAAAAA	0.363																																						dbGAP											0													105.0	102.0	103.0					4																	152080503		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.803-1T>C	4.37:g.152080503A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain	p.C268	ENST00000409252.2	37	c.804	CCDS34077.2	4																																																																																			SH3D19	-	NULL	ENSG00000109686		0.363	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	116	0.00	0	A	NM_001009555	Silent	152080503	152080503	-1	no_errors	ENST00000304527	ensembl	human	known	69_37n	silent	112	35.06	61	SNP	1.000	G
SH3PXD2B	285590	genome.wustl.edu	37	5	171809077	171809077	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:171809077A>G	ENST00000311601.5	-	5	534	c.364T>C	c.(364-366)Ttt>Ctt	p.F122L	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.F122L	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	122	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	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)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGTCTCAAAGAACTGCAGC	0.587																																						dbGAP											0													30.0	31.0	31.0					5																	171809077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.364T>C	5.37:g.171809077A>G	ENSP00000309714:p.Phe122Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.F122L	ENST00000311601.5	37	c.364	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904368	0.92035	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.69926	-0.44;-0.44	5.79	5.79	0.91817	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82402	-0.0475	10	0.66056	D	0.02	-11.7636	14.0908	0.64990	1.0:0.0:0.0:0.0	.	122	A1X283	SPD2B_HUMAN	L	122	ENSP00000430890:F122L;ENSP00000309714:F122L	ENSP00000309714:F122L	F	-	1	0	SH3PXD2B	171741682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.526000	0.90588	2.205000	0.71048	0.528000	0.53228	TTT	SH3PXD2B	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000174705		0.587	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	33	0.00	0	A	NM_017963		171809077	171809077	-1	no_errors	ENST00000311601	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	1.000	G
SHKBP1	92799	genome.wustl.edu	37	19	41095083	41095083	+	Splice_Site	SNP	C	C	T	rs201616547	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:41095083C>T	ENST00000291842.5	+	15	1637	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	SHKBP1_ENST00000600733.1_Splice_Site_p.R505W|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	530					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACTGGGCAGCGGTGAGGACA	0.617													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		11520	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													59.0	43.0	48.0					19																	41095083		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1589+1C>T	19.37:g.41095083C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.R530W	ENST00000291842.5	37	c.1588	CCDS12560.1	19	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	20.7	4.034191	0.75617	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.54071	0.59	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.141330	0.46145	D	0.000303	T	0.70360	0.3215	M	0.78916	2.43	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	0.91635	0.999;0.999;0.958;0.994;0.998;0.985	T	0.73585	-0.3936	10	0.87932	D	0	-1.2869	10.4416	0.44469	0.3052:0.6948:0.0:0.0	.	408;310;453;367;530;530	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	W	530;310	ENSP00000291842:R530W	ENSP00000291842:R530W	R	+	1	2	SHKBP1	45786923	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.150000	0.50662	2.507000	0.84556	0.561000	0.74099	CGG	SHKBP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000160410		0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	56	0.00	0	C	NM_138392	Missense_Mutation	41095083	41095083	+1	no_errors	ENST00000291842	ensembl	human	known	69_37n	missense	51	34.62	27	SNP	1.000	T
SLC10A5	347051	genome.wustl.edu	37	8	82606776	82606776	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:82606776T>C	ENST00000518568.1	-	1	1633	c.432A>G	c.(430-432)ctA>ctG	p.L144L		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	144						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AAATAAGCATTAGGATATTTC	0.338																																						dbGAP											0													100.0	99.0	100.0					8																	82606776		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.432A>G	8.37:g.82606776T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN26	Silent	SNP	pfam_BilAc/Na_symport	p.L144	ENST00000518568.1	37	c.432	CCDS34915.1	8																																																																																			SLC10A5	-	NULL	ENSG00000253598		0.338	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1	113	0.00	0	T	XM_294493		82606776	82606776	-1	no_errors	ENST00000518568	ensembl	human	known	69_37n	silent	137	34.76	73	SNP	0.003	C
SLC15A3	51296	genome.wustl.edu	37	11	60711201	60711201	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:60711201A>G	ENST00000227880.3	-	3	1189	c.956T>C	c.(955-957)gTc>gCc	p.V319A		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	319					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGTCACCATGACGGGCAAGAT	0.617																																						dbGAP											0													115.0	96.0	103.0					11																	60711201		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.956T>C	11.37:g.60711201A>G	ENSP00000227880:p.Val319Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2X9	Missense_Mutation	SNP	pfam_Oligopeptide_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.V319A	ENST00000227880.3	37	c.956	CCDS7998.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.583328|4.583328	0.86748|0.86748	.|.	.|.	ENSG00000110446|ENSG00000110446	ENST00000537307|ENST00000227880;ENST00000536491	.|T;T	.|0.60672	.|0.17;0.17	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.279318	.|0.25500	.|N	.|0.030243	T|T	0.69169|0.69169	0.3081|0.3081	M|M	0.81112|0.81112	2.525|2.525	0.33743|0.33743	D|D	0.619619|0.619619	.|P;P	.|0.49783	.|0.913;0.928	.|P;P	.|0.52554	.|0.702;0.681	T|T	0.81611|0.81611	-0.0854|-0.0854	5|10	.|0.87932	.|D	.|0	-32.0467|-32.0467	12.2526|12.2526	0.54608|0.54608	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|319;319	.|F5H1C8;Q8IY34	.|.;S15A3_HUMAN	P|A	22|319;132	.|ENSP00000227880:V319A;ENSP00000439535:V132A	.|ENSP00000227880:V319A	S|V	-|-	1|2	0|0	SLC15A3|SLC15A3	60467777|60467777	1.000000|1.000000	0.71417|0.71417	0.931000|0.931000	0.37212|0.37212	0.992000|0.992000	0.81027|0.81027	8.011000|8.011000	0.88624|0.88624	2.157000|2.157000	0.67596|0.67596	0.529000|0.529000	0.55759|0.55759	TCA|GTC	SLC15A3	-	pfam_Oligopeptide_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000110446		0.617	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A3	HGNC	protein_coding	OTTHUMT00000396366.1	91	0.00	0	A	NM_016582		60711201	60711201	-1	no_errors	ENST00000227880	ensembl	human	known	69_37n	missense	56	38.46	35	SNP	0.990	G
SLC16A7	9194	genome.wustl.edu	37	12	60173290	60173290	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:60173290A>G	ENST00000261187.4	+	5	1431	c.1267A>G	c.(1267-1269)Att>Gtt	p.I423V	SLC16A7_ENST00000543448.1_Missense_Mutation_p.I324V|SLC16A7_ENST00000547379.1_Missense_Mutation_p.I423V|SLC16A7_ENST00000552024.1_Missense_Mutation_p.I423V|SLC16A7_ENST00000552432.1_Missense_Mutation_p.I423V	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	423					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	GTGGCTGCTCATTGGCAATGC	0.418																																						dbGAP											0													79.0	69.0	72.0					12																	60173290		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1267A>G	12.37:g.60173290A>G	ENSP00000261187:p.Ile423Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.I423V	ENST00000261187.4	37	c.1267	CCDS8961.1	12	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501650	0.26949	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;1.01	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100557	0.64402	D	0.000002	T	0.76572	0.4006	L	0.54965	1.715	0.80722	D	1	B	0.13594	0.008	B	0.15052	0.012	T	0.71537	-0.4563	9	.	.	.	.	15.4426	0.75200	1.0:0.0:0.0:0.0	.	423	O60669	MOT2_HUMAN	V	423;423;423;423;423;324	ENSP00000449547:I423V;ENSP00000448071:I423V;ENSP00000448742:I423V;ENSP00000446722:I423V;ENSP00000261187:I423V;ENSP00000443731:I324V	.	I	+	1	0	SLC16A7	58459557	1.000000	0.71417	0.999000	0.59377	0.312000	0.27988	6.198000	0.72106	2.102000	0.63906	0.482000	0.46254	ATT	SLC16A7	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000118596		0.418	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A7	HGNC	protein_coding	OTTHUMT00000406587.1	49	0.00	0	A	NM_004731		60173290	60173290	+1	no_errors	ENST00000261187	ensembl	human	known	69_37n	missense	42	39.13	27	SNP	1.000	G
SLC25A10	1468	genome.wustl.edu	37	17	79684474	79684474	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:79684474T>C	ENST00000350690.5	+	8	666	c.580T>C	c.(580-582)Tac>Cac	p.Y194H	SLC25A10_ENST00000541223.1_Missense_Mutation_p.Y349H|SLC25A10_ENST00000545862.1_Missense_Mutation_p.Y151H|SLC25A10_ENST00000571730.1_Missense_Mutation_p.Y349H|SLC25A10_ENST00000331531.5_Missense_Mutation_p.Y194H	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	194					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|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)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TAGCACCGGGTACCTCTCTGA	0.632																																						dbGAP											0													129.0	113.0	119.0					17																	79684474		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.580T>C	17.37:g.79684474T>C	ENSP00000345580:p.Tyr194His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,prints_Mit_uncoupling,pfscan_Mitochondrial_sb/sol_carrier	p.Y349H	ENST00000350690.5	37	c.1045	CCDS11786.1	17	.	.	.	.	.	.	.	.	.	.	T	2.235	-0.375232	0.05034	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.07	1.58	0.23477	Mitochondrial carrier domain (2);	0.280058	0.34906	N	0.003600	T	0.60011	0.2236	L	0.33293	1	0.18873	N	0.999988	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.12837	0.002;0.008;0.003	T	0.35968	-0.9767	10	0.17369	T	0.5	-11.0974	5.1276	0.14894	0.2744:0.0815:0.0:0.6442	.	349;194;194	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	H	349;194;194;151	ENSP00000439565:Y349H;ENSP00000328403:Y194H;ENSP00000345580:Y194H;ENSP00000446242:Y151H	ENSP00000328403:Y194H	Y	+	1	0	SLC25A10	77294879	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-0.488000	0.06497	0.420000	0.25954	0.459000	0.35465	TAC	SLC25A10	-	superfamily_Mt_carrier_dom,prints_Mit_uncoupling	ENSG00000183048		0.632	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	SLC25A10	HGNC	protein_coding	OTTHUMT00000440816.1	80	0.00	0	T			79684474	79684474	+1	no_errors	ENST00000541223	ensembl	human	known	69_37n	missense	75	26.92	28	SNP	0.048	C
SLC25A20	788	genome.wustl.edu	37	3	48929454	48929454	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:48929454A>G	ENST00000319017.4	-	2	355	c.157T>C	c.(157-159)Tct>Cct	p.S53P	SLC25A20_ENST00000430379.1_Missense_Mutation_p.S53P|SLC25A20_ENST00000544097.1_Missense_Mutation_p.S3P	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	53					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	AAGGTCCCAGAGTACATGGGA	0.478																																						dbGAP											0													127.0	121.0	123.0					3																	48929454		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.157T>C	3.37:g.48929454A>G	ENSP00000326305:p.Ser53Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7F4|Q9UIQ2	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S53P	ENST00000319017.4	37	c.157	CCDS2779.1	3	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772137	0.69992	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	T;T;T	0.79653	-1.29;-1.29;-1.29	5.03	3.84	0.44239	Mitochondrial carrier domain (2);	0.185722	0.47455	D	0.000227	T	0.79975	0.4539	L	0.48935	1.535	0.47094	D	0.999315	B;P	0.38565	0.044;0.637	B;P	0.47705	0.097;0.555	T	0.78293	-0.2260	10	0.51188	T	0.08	-16.739	10.2614	0.43430	0.8517:0.0:0.0:0.1483	.	53;53	C9JPE1;O43772	.;MCAT_HUMAN	P	53;53;3	ENSP00000388986:S53P;ENSP00000326305:S53P;ENSP00000438731:S3P	ENSP00000326305:S53P	S	-	1	0	SLC25A20	48904458	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.140000	0.31516	0.907000	0.36646	0.374000	0.22700	TCT	SLC25A20	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000178537		0.478	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A20	HGNC	protein_coding	OTTHUMT00000257516.2	57	0.00	0	A	NM_000387		48929454	48929454	-1	no_errors	ENST00000319017	ensembl	human	known	69_37n	missense	45	39.19	29	SNP	1.000	G
SLC26A4	5172	genome.wustl.edu	37	7	107335077	107335077	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:107335077A>G	ENST00000265715.3	+	12	1577	c.1353A>G	c.(1351-1353)gcA>gcG	p.A451A	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Silent_p.A20A|SLC26A4_ENST00000544569.1_Silent_p.A38A|SLC26A4_ENST00000541474.1_Silent_p.A12A	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	451					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CGGTCTTGGCAGCTGTTGTAA	0.438									Pendred syndrome																													dbGAP											0													145.0	135.0	138.0					7																	107335077		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1353A>G	7.37:g.107335077A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z266|O43170	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A451	ENST00000265715.3	37	c.1353	CCDS5746.1	7																																																																																			SLC26A4	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091137		0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	169	0.00	0	A	NM_000441		107335077	107335077	+1	no_errors	ENST00000265715	ensembl	human	known	69_37n	silent	188	25.10	63	SNP	0.993	G
SLC35B3	51000	genome.wustl.edu	37	6	8417714	8417714	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:8417714T>C	ENST00000379660.4	-	8	1243	c.794A>G	c.(793-795)tAt>tGt	p.Y265C		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	265					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)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					ACCAATTGAATACGAATACAA	0.328																																					Melanoma(83;700 1353 9357 11478 30548)	dbGAP											0													69.0	65.0	66.0					6																	8417714		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.794A>G	6.37:g.8417714T>C	ENSP00000368981:p.Tyr265Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	pfam_UAA	p.Y265C	ENST00000379660.4	37	c.794	CCDS4508.1	6	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877505	0.51801	.	.	ENSG00000124786	ENST00000379660	T	0.30981	1.51	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.64761	-0.6331	9	.	.	.	-13.6299	15.9054	0.79423	0.0:0.0:0.0:1.0	.	265;265	Q9H1N7;B2R8V5	S35B3_HUMAN;.	C	265	ENSP00000368981:Y265C	.	Y	-	2	0	SLC35B3	8362713	1.000000	0.71417	0.923000	0.36655	0.234000	0.25298	6.066000	0.71185	2.157000	0.67596	0.533000	0.62120	TAT	SLC35B3	-	pfam_UAA	ENSG00000124786		0.328	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B3	HGNC	protein_coding	OTTHUMT00000039802.1	58	0.00	0	T	NM_015948		8417714	8417714	-1	no_errors	ENST00000379660	ensembl	human	known	69_37n	missense	97	25.38	33	SNP	1.000	C
SLC35B4	84912	genome.wustl.edu	37	7	133981152	133981152	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:133981152A>G	ENST00000378509.4	-	9	1039	c.740T>C	c.(739-741)aTc>aCc	p.I247T	SLC35B4_ENST00000466599.1_5'Flank	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	247					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CTGAGTGATGATGTTCATGAG	0.443																																						dbGAP											0													159.0	123.0	135.0					7																	133981152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.740T>C	7.37:g.133981152A>G	ENSP00000367770:p.Ile247Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	pfam_UAA,pfam_DUF250	p.I247T	ENST00000378509.4	37	c.740	CCDS34756.1	7	.	.	.	.	.	.	.	.	.	.	A	16.84	3.235133	0.58886	.	.	ENSG00000205060	ENST00000378509	T	0.28255	1.62	5.91	5.91	0.95273	.	0.322570	0.33272	N	0.005091	T	0.17066	0.0410	N	0.05306	-0.075	0.31803	N	0.628217	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.10154	-1.0642	10	0.19147	T	0.46	-0.94	16.0067	0.80367	1.0:0.0:0.0:0.0	.	247;247	Q969S0-3;Q969S0	.;S35B4_HUMAN	T	247	ENSP00000367770:I247T	ENSP00000367770:I247T	I	-	2	0	SLC35B4	133631692	1.000000	0.71417	0.968000	0.41197	0.985000	0.73830	6.553000	0.73918	2.261000	0.74972	0.533000	0.62120	ATC	SLC35B4	-	pfam_UAA,pfam_DUF250	ENSG00000205060		0.443	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B4	HGNC	protein_coding	OTTHUMT00000339444.2	63	0.00	0	A	NM_032826		133981152	133981152	-1	no_errors	ENST00000378509	ensembl	human	known	69_37n	missense	81	22.12	23	SNP	1.000	G
SLC35E2	9906	genome.wustl.edu	37	1	1670469	1670469	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:1670469A>C	ENST00000246421.4	-	3	765	c.350T>G	c.(349-351)gTt>gGt	p.V117G	RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000355439.2_Missense_Mutation_p.V117G|SLC35E2_ENST00000400924.1_Missense_Mutation_p.V117G	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	117						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	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;5.61e-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)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACACCCGATAACCGTGGTGGA	0.597																																						dbGAP											0													47.0	65.0	59.0					1																	1670469		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.350T>G	1.37:g.1670469A>C	ENSP00000246421:p.Val117Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Missense_Mutation	SNP	pfam_DMT	p.V117G	ENST00000246421.4	37	c.350	CCDS33.1	1	.	.	.	.	.	.	.	.	.	.	a	5.710	0.315480	0.10789	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	D;D;D	0.91996	-2.95;-2.95;-2.95	2.89	2.89	0.33648	Drug/metabolite transporter (1);	0.652941	0.14856	U	0.294386	D	0.86961	0.6059	L	0.39245	1.2	0.33666	D	0.610359	P;P	0.39920	0.695;0.646	B;B	0.36922	0.236;0.156	D	0.88479	0.3067	10	0.48119	T	0.1	-2.737	10.2092	0.43131	1.0:0.0:0.0:0.0	.	117;117	P0CK97;P0CK97-2	S35E2_HUMAN;.	G	117	ENSP00000347614:V117G;ENSP00000383714:V117G;ENSP00000246421:V117G	ENSP00000246421:V117G	V	-	2	0	SLC35E2	1660329	0.787000	0.28750	0.001000	0.08648	0.029000	0.11900	4.846000	0.62860	1.312000	0.45043	0.433000	0.28618	GTT	SLC35E2	-	pfam_DMT	ENSG00000215790		0.597	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	SLC35E2	HGNC	protein_coding	OTTHUMT00000002210.3	227	0.43	1	A	XM_049733		1670469	1670469	-1	no_errors	ENST00000246421	ensembl	human	known	69_37n	missense	240	18.31	54	SNP	0.580	C
SLC37A4	2542	genome.wustl.edu	37	11	118899010	118899010	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:118899010A>G	ENST00000545985.1	-	4	1031	c.275T>C	c.(274-276)aTa>aCa	p.I92T	SLC37A4_ENST00000357590.5_Missense_Mutation_p.I92T|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.I19T|SLC37A4_ENST00000330775.7_Missense_Mutation_p.I92T	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	92					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCAAAGAATATGTTGACCAG	0.577																																						dbGAP											0													46.0	52.0	50.0					11																	118899010		2049	4193	6242	-	-	-	SO:0001583	missense	0			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.275T>C	11.37:g.118899010A>G	ENSP00000475241:p.Ile92Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O96016|Q5J7V4|Q9UI19|Q9UNS4	RNA	SNP	-	NULL	ENST00000545985.1	37	NULL		11																																																																																			SLC37A4	-	-	ENSG00000137700		0.577	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	SLC37A4	HGNC	protein_coding		57	0.00	0	A	NM_001467		118899010	118899010	-1	no_errors	ENST00000330775	ensembl	human	known	69_37n	rna	51	43.33	39	SNP	0.961	G
SLC38A9	153129	genome.wustl.edu	37	5	54948414	54948414	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:54948414G>A	ENST00000396865.2	-	10	1486	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	SLC38A9_ENST00000515629.1_Missense_Mutation_p.L236F|SLC38A9_ENST00000539768.1_Missense_Mutation_p.L299F|SLC38A9_ENST00000512595.1_Missense_Mutation_p.L272F|SLC38A9_ENST00000416547.2_Missense_Mutation_p.L175F|SLC38A9_ENST00000318672.3_Missense_Mutation_p.L299F	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	299					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AGTGGGAGGAGGAGCCCTACA	0.398																																						dbGAP											0													76.0	71.0	73.0					5																	54948414		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.895C>T	5.37:g.54948414G>A	ENSP00000380074:p.Leu299Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.L299F	ENST00000396865.2	37	c.895	CCDS3968.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223212	0.79464	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595	T;T;T;T;T;T	0.36340	4.37;4.37;4.37;4.37;4.37;1.26	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.54908	1.71	0.80722	D	1	P;D	0.63880	0.915;0.993	B;D	0.65874	0.389;0.939	T	0.48151	-0.9060	10	0.40728	T	0.16	-12.4544	19.4145	0.94689	0.0:0.0:1.0:0.0	.	272;299	B3KXV1;Q8NBW4	.;S38A9_HUMAN	F	299;299;299;236;175;272	ENSP00000380074:L299F;ENSP00000316596:L299F;ENSP00000437771:L299F;ENSP00000420934:L236F;ENSP00000397429:L175F;ENSP00000427335:L272F	ENSP00000316596:L299F	L	-	1	0	SLC38A9	54984171	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	5.448000	0.66612	2.756000	0.94617	0.655000	0.94253	CTC	SLC38A9	-	pfam_AA_transpt_TM	ENSG00000177058		0.398	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	49	0.00	0	G	NM_173514		54948414	54948414	-1	no_errors	ENST00000318672	ensembl	human	known	69_37n	missense	39	38.10	24	SNP	1.000	A
SLC39A5	283375	genome.wustl.edu	37	12	56629477	56629477	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:56629477T>C	ENST00000266980.4	+	6	1231	c.938T>C	c.(937-939)cTc>cCc	p.L313P	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.L313P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	313					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACCGAGGGCTCAGGCCAGTG	0.622																																						dbGAP											0													143.0	143.0	143.0					12																	56629477		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.938T>C	12.37:g.56629477T>C	ENSP00000266980:p.Leu313Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.L313P	ENST00000266980.4	37	c.938	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	T	13.09	2.132883	0.37630	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.63744	-0.06;-0.06	3.53	2.36	0.29203	.	4.522370	0.01117	N	0.005707	T	0.58680	0.2139	N	0.13168	0.305	0.53688	D	0.999978	P;P	0.52842	0.956;0.956	P;P	0.54815	0.761;0.683	T	0.55068	-0.8198	10	0.30854	T	0.27	-16.5478	6.9546	0.24563	0.0:0.0:0.2352:0.7648	.	313;204	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	P	313	ENSP00000405360:L313P;ENSP00000266980:L313P	ENSP00000266980:L313P	L	+	2	0	SLC39A5	54915744	0.000000	0.05858	0.998000	0.56505	0.997000	0.91878	-0.249000	0.08842	0.717000	0.32145	0.533000	0.62120	CTC	SLC39A5	-	pfam_ZIP	ENSG00000139540		0.622	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	86	0.00	0	T	NM_173596		56629477	56629477	+1	no_errors	ENST00000266980	ensembl	human	known	69_37n	missense	47	34.72	25	SNP	0.999	C
SLC4A7	9497	genome.wustl.edu	37	3	27446348	27446348	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:27446348A>C	ENST00000295736.5	-	14	2091	c.2021T>G	c.(2020-2022)tTt>tGt	p.F674C	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.F555C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.F224C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.F555C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.F670C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.F670C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.F559C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.F683C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.F666C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.F550C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	674					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	AATTTTTTCAAACACTAGAAC	0.338																																						dbGAP											0													54.0	58.0	57.0					3																	27446348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2021T>G	3.37:g.27446348A>C	ENSP00000295736:p.Phe674Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.F683C	ENST00000295736.5	37	c.2048	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119460	0.77323	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.62	4.45	0.53987	Bicarbonate transporter, C-terminal (1);	0.104024	0.64402	D	0.000003	D	0.95357	0.8493	H	0.97077	3.935	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.997;0.999;0.999;1.0;0.998;0.996;0.999;0.998	D;D;D;D;D;D;D;D;D	0.79108	0.986;0.981;0.986;0.981;0.992;0.967;0.967;0.986;0.981	D	0.95669	0.8722	10	0.87932	D	0	.	12.1479	0.54034	0.8717:0.0:0.0:0.1283	.	670;555;666;670;683;224;550;674;555	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	225;674;550;683;670;555;666;555;670;559;224;570	ENSP00000411031:F225C;ENSP00000295736:F674C;ENSP00000416368:F550C;ENSP00000390394:F683C;ENSP00000414797:F670C;ENSP00000394252:F555C;ENSP00000406605:F666C;ENSP00000407382:F555C;ENSP00000406804:F670C;ENSP00000395336:F559C;ENSP00000373429:F224C;ENSP00000388703:F570C	ENSP00000295736:F674C	F	-	2	0	SLC4A7	27421352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	0.942000	0.37525	0.377000	0.23210	TTT	SLC4A7	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.338	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	57	0.00	0	A	NM_003615		27446348	27446348	-1	no_errors	ENST00000454389	ensembl	human	known	69_37n	missense	52	36.59	30	SNP	1.000	C
SLC5A9	200010	genome.wustl.edu	37	1	48705123	48705123	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:48705123C>A	ENST00000438567.2	+	12	1643	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	SLC5A9_ENST00000236495.5_Missense_Mutation_p.L556M|SLC5A9_ENST00000533824.1_Missense_Mutation_p.L552M	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	531					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTTCCACTACCTGTACTTTGC	0.572																																						dbGAP											0													296.0	258.0	271.0					1																	48705123		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1591C>A	1.37:g.48705123C>A	ENSP00000401730:p.Leu531Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L556M	ENST00000438567.2	37	c.1666	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389473	0.82902	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.82255	-1.59;-1.59;-1.59	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	L	0.54863	1.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85041	0.0923	10	0.33141	T	0.24	.	11.308	0.49347	0.0:0.9173:0.0:0.0827	.	552;531;556	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	M	552;531;556	ENSP00000431900:L552M;ENSP00000401730:L531M;ENSP00000236495:L556M	ENSP00000236495:L556M	L	+	1	2	SLC5A9	48477710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.784000	0.55416	2.682000	0.91365	0.650000	0.86243	CTG	SLC5A9	-	NULL	ENSG00000117834		0.572	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	183	0.00	0	C	XM_117174		48705123	48705123	+1	no_errors	ENST00000236495	ensembl	human	known	69_37n	missense	201	25.56	69	SNP	1.000	A
SLC6A2	6530	genome.wustl.edu	37	16	55730220	55730220	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:55730220A>G	ENST00000379906.2	+	8	1486	c.1231A>G	c.(1231-1233)Atg>Gtg	p.M411V	SLC6A2_ENST00000566163.1_Missense_Mutation_p.M366V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.M306V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.M411V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.M411V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.M411V|SLC6A2_ENST00000414754.3_Missense_Mutation_p.M411V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	411					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTTTTTCGTCATGCTCCTGGC	0.542																																						dbGAP											0													249.0	207.0	221.0					16																	55730220		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1231A>G	16.37:g.55730220A>G	ENSP00000369237:p.Met411Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.M411V	ENST00000379906.2	37	c.1231	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974862	0.74360	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.77358	-1.09;-1.09;-1.09	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.87549	0.6205	M	0.93328	3.405	0.58432	D	0.999999	P;P;P;P	0.46142	0.787;0.721;0.873;0.675	P;P;P;P	0.51945	0.595;0.452;0.685;0.595	D	0.90527	0.4493	10	0.87932	D	0	.	12.8999	0.58119	1.0:0.0:0.0:0.0	.	411;125;306;411	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	V	411;125;411;411	ENSP00000394956:M411V;ENSP00000369237:M411V;ENSP00000219833:M411V	ENSP00000219833:M411V	M	+	1	0	SLC6A2	54287721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.483000	0.90442	1.762000	0.52044	0.533000	0.62120	ATG	SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000103546		0.542	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	168	0.00	0	A			55730220	55730220	+1	no_errors	ENST00000219833	ensembl	human	known	69_37n	missense	207	16.19	40	SNP	1.000	G
SLC6A4	6532	genome.wustl.edu	37	17	28548756	28548756	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:28548756A>C	ENST00000401766.2	-	2	733	c.221T>G	c.(220-222)cTt>cGt	p.L74R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.L74R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	74					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CCCTTGATGAAGCTCAGCCAC	0.567																																						dbGAP											0													214.0	189.0	197.0					17																	28548756		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.221T>G	17.37:g.28548756A>C	ENSP00000385822:p.Leu74Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EE02	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.L74R	ENST00000401766.2	37	c.221	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	A	9.141	1.013748	0.19277	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.74106	-0.81;-0.81	5.85	-2.51	0.06365	.	1.386530	0.03964	N	0.290529	T	0.55097	0.1899	L	0.28504	0.86	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.23154	-1.0196	10	0.16420	T	0.52	.	1.0329	0.01542	0.283:0.1867:0.3261:0.2042	.	74	P31645	SC6A4_HUMAN	R	116;74;74	ENSP00000385822:L74R;ENSP00000261707:L74R	ENSP00000261707:L74R	L	-	2	0	SLC6A4	25572882	0.000000	0.05858	0.223000	0.23860	0.850000	0.48378	-0.872000	0.04219	0.050000	0.15949	0.533000	0.62120	CTT	SLC6A4	-	NULL	ENSG00000108576		0.567	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3	148	0.67	1	A	NM_001045		28548756	28548756	-1	no_errors	ENST00000261707	ensembl	human	known	69_37n	missense	128	15.23	23	SNP	0.004	C
SMAP2	64744	genome.wustl.edu	37	1	40881847	40881847	+	Splice_Site	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:40881847G>T	ENST00000539317.1	+	8	634		c.e8-1			NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TTTGCCCTAAGGTTGTAGGTT	0.512																																						dbGAP											0													128.0	133.0	131.0					1																	40881847		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.442-1G>T	1.37:g.40881847G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Splice_Site	SNP	-	e8-1	ENST00000539317.1	37	c.682-1	CCDS55593.1	1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847657	0.71603	.	.	ENSG00000084070	ENST00000372718;ENST00000372708;ENST00000539317	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMAP2	40654434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.626000	0.61269	2.941000	0.99782	0.655000	0.94253	.	SMAP2	-	-	ENSG00000084070		0.512	SMAP2-201	KNOWN	basic|CCDS	protein_coding	SMAP2	HGNC	protein_coding		84	0.00	0	G	NM_022733	Intron	40881847	40881847	+1	no_errors	ENST00000372718	ensembl	human	known	69_37n	splice_site	88	19.27	21	SNP	1.000	T
SMCHD1	23347	genome.wustl.edu	37	18	2732390	2732390	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:2732390A>G	ENST00000320876.6	+	25	3514	c.3176A>G	c.(3175-3177)aAt>aGt	p.N1059S	SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1059S|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1059					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						GATGAGGTTAATTGGATAGCG	0.328																																						dbGAP											0													125.0	113.0	117.0					18																	2732390		1841	4098	5939	-	-	-	SO:0001583	missense	0			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.3176A>G	18.37:g.2732390A>G	ENSP00000326603:p.Asn1059Ser	Somatic		WXS	Illumina GAIIx	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.N1059S	ENST00000320876.6	37	c.3176	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	A	1.386	-0.582118	0.03827	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.21734	1.99;1.99	5.27	2.7	0.31948	.	0.399839	0.27782	N	0.017870	T	0.14700	0.0355	L	0.44542	1.39	0.23156	N	0.998203	B	0.13594	0.008	B	0.09377	0.004	T	0.28618	-1.0038	10	0.13853	T	0.58	-16.871	8.1403	0.31080	0.682:0.2497:0.0684:0.0	.	1059	A6NHR9	SMHD1_HUMAN	S	1059	ENSP00000326603:N1059S;ENSP00000261598:N1059S	ENSP00000261598:N1059S	N	+	2	0	SMCHD1	2722390	0.856000	0.29760	1.000000	0.80357	0.964000	0.63967	1.159000	0.31749	0.793000	0.33875	0.533000	0.62120	AAT	SMCHD1	-	NULL	ENSG00000101596		0.328	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	103	0.00	0	A			2732390	2732390	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	missense	101	18.55	23	SNP	0.997	G
SMCP	4184	genome.wustl.edu	37	1	152857068	152857068	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:152857068A>G	ENST00000368765.3	+	2	320	c.170A>G	c.(169-171)cAc>cGc	p.H57R		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	57	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACACAATCACTGCTGCCAG	0.537																																						dbGAP											0													158.0	144.0	149.0					1																	152857068		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.170A>G	1.37:g.152857068A>G	ENSP00000357754:p.His57Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A42	Missense_Mutation	SNP	NULL	p.H57R	ENST00000368765.3	37	c.170	CCDS1029.1	1	.	.	.	.	.	.	.	.	.	.	A	9.944	1.218399	0.22373	.	.	ENSG00000163206	ENST00000368765	T	0.56275	0.47	4.4	-1.5	0.08691	.	.	.	.	.	T	0.12475	0.0303	L	0.36672	1.1	0.09310	N	1	B	0.30406	0.278	B	0.22880	0.042	T	0.18053	-1.0349	9	0.16420	T	0.52	0.3604	3.1414	0.06457	0.5126:0.2701:0.1219:0.0954	.	57	P49901	MCSP_HUMAN	R	57	ENSP00000357754:H57R	ENSP00000357754:H57R	H	+	2	0	SMCP	151123692	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.188000	0.09642	-0.224000	0.09928	0.533000	0.62120	CAC	SMCP	-	NULL	ENSG00000163206		0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCP	HGNC	protein_coding	OTTHUMT00000034665.1	88	0.00	0	A	NM_030663		152857068	152857068	+1	no_errors	ENST00000368765	ensembl	human	known	69_37n	missense	141	13.94	23	SNP	0.000	G
SMG1	23049	genome.wustl.edu	37	16	18841308	18841308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:18841308delT	ENST00000446231.2	-	53	9485	c.9073delA	c.(9073-9075)agafs	p.R3025fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.R3025fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3025					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTCTGTAGTCTTTTTAGAAAG	0.363																																						dbGAP											0													35.0	32.0	33.0					16																	18841308		1805	4077	5882	-	-	-	SO:0001589	frameshift_variant	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9073delA	16.37:g.18841308delT	ENSP00000402515:p.Arg3025fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_FATC,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.R3025fs	ENST00000446231.2	37	c.9073	CCDS45430.1	16																																																																																			SMG1	-	NULL	ENSG00000157106		0.363	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	46	0.00	0	T	NM_015092		18841308	18841308	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	frame_shift_del	49	31.94	23	DEL	1.000	-
SMG1	23049	genome.wustl.edu	37	16	18846392	18846392	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:18846392T>C	ENST00000446231.2	-	49	8564	c.8152A>G	c.(8152-8154)Aac>Gac	p.N2718D	SMG1_ENST00000389467.3_Missense_Mutation_p.N2718D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2718					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTCTGCTGTTGATGTCTGCT	0.443																																						dbGAP											0													171.0	166.0	168.0					16																	18846392		1967	4169	6136	-	-	-	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8152A>G	16.37:g.18846392T>C	ENSP00000402515:p.Asn2718Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,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.N2718D	ENST00000446231.2	37	c.8152	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281959	0.80692	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01209	5.17;5.17	5.77	5.77	0.91146	Armadillo-type fold (1);	0.072051	0.64402	N	0.000018	T	0.03827	0.0108	L	0.32530	0.975	0.42471	D	0.992829	D	0.63880	0.993	D	0.70935	0.971	T	0.63269	-0.6675	10	0.42905	T	0.14	.	16.3892	0.83528	0.0:0.0:0.0:1.0	.	2718	Q96Q15	SMG1_HUMAN	D	2718	ENSP00000402515:N2718D;ENSP00000374118:N2718D	ENSP00000374118:N2718D	N	-	1	0	SMG1	18753893	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.470000	0.80973	2.330000	0.79161	0.477000	0.44152	AAC	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	71	0.00	0	T	NM_015092		18846392	18846392	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	68	32.67	33	SNP	1.000	C
SMG8	55181	genome.wustl.edu	37	17	57292288	57292288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:57292288delT	ENST00000543872.2	+	5	3165	c.2901delT	c.(2899-2901)tgtfs	p.C967fs	SMG8_ENST00000300917.5_Frame_Shift_Del_p.C967fs|CTD-2510F5.6_ENST00000577660.1_Frame_Shift_Del_p.C86fs			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	967					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GAGGACCTTGTTTCCCCCCTA	0.448																																						dbGAP											0													140.0	125.0	130.0					17																	57292288		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2901delT	17.37:g.57292288delT	ENSP00000438748:p.Cys967fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Frame_Shift_Del	DEL	pfam_Smg8/Smg9	p.F968fs	ENST00000543872.2	37	c.2901	CCDS11615.1	17																																																																																			SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.448	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	88	0.00	0	T	NM_018149		57292288	57292288	+1	no_errors	ENST00000300917	ensembl	human	known	69_37n	frame_shift_del	74	35.83	43	DEL	1.000	-
SMYD1	150572	genome.wustl.edu	37	2	88409969	88409969	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:88409969A>G	ENST00000419482.2	+	10	1496	c.1411A>G	c.(1411-1413)Atg>Gtg	p.M471V	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.M458V	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	471					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAACCAGCCCATGCAGGTCAT	0.597																																						dbGAP											0													68.0	55.0	59.0					2																	88409969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1411A>G	2.37:g.88409969A>G	ENSP00000393453:p.Met471Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.M471V	ENST00000419482.2	37	c.1411	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550791	0.45383	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.21734	1.99;1.99	5.83	4.68	0.58851	.	0.158281	0.64402	N	0.000002	T	0.14787	0.0357	L	0.29908	0.895	0.80722	D	1	B	0.19583	0.037	B	0.20767	0.031	T	0.06373	-1.0830	10	0.59425	D	0.04	-26.1212	6.3139	0.21180	0.7855:0.0:0.0742:0.1403	.	471	Q8NB12	SMYD1_HUMAN	V	471;458;292	ENSP00000393453:M471V;ENSP00000407888:M458V	ENSP00000295833:M292V	M	+	1	0	SMYD1	88191084	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.617000	0.67716	1.041000	0.40125	0.533000	0.62120	ATG	SMYD1	-	NULL	ENSG00000115593		0.597	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	51	0.00	0	A	XM_097915		88409969	88409969	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	missense	68	10.53	8	SNP	1.000	G
SNRNP27	11017	genome.wustl.edu	37	2	70131463	70131463	+	3'UTR	DEL	T	T	-	rs79372020		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:70131463delT	ENST00000244227.3	+	0	916				AC019206.1_ENST00000599032.1_5'Flank|SNRNP27_ENST00000409116.1_Frame_Shift_Del_p.D142fs	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TGAAGGATGATTTTTTTTCCC	0.348																																						dbGAP											0										3,4263		0,3,2130	110.0	100.0	103.0			-0.7	0.0	2		104	2,8250		0,2,4124	no	utr-3	SNRNP27	NM_006857.2		0,5,6254	A1A1,A1R,RR		0.0242,0.0703,0.0399			70131463	5,12513	2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.*23T>-	2.37:g.70131463delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15410	Frame_Shift_Del	DEL	pfam_DUF1777	p.S145fs	ENST00000244227.3	37	c.426	CCDS33219.1	2																																																																																			SNRNP27	-	NULL	ENSG00000124380		0.348	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP27	HGNC	protein_coding	OTTHUMT00000327369.1	137	0.00	0	T	NM_006857		70131463	70131463	+1	no_errors	ENST00000409116	ensembl	human	novel	69_37n	frame_shift_del	203	14.23	34	DEL	0.141	-
SNRNP200	23020	genome.wustl.edu	37	2	96950287	96950287	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:96950287G>C	ENST00000323853.5	-	31	4278	c.4201C>G	c.(4201-4203)Ctc>Gtc	p.L1401V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1401	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCTTGTTGAGCCTGTCCTGG	0.532																																						dbGAP											0													160.0	132.0	141.0					2																	96950287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4201C>G	2.37:g.96950287G>C	ENSP00000317123:p.Leu1401Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1401V	ENST00000323853.5	37	c.4201	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800055	0.70567	.	.	ENSG00000144028	ENST00000323853;ENST00000543553	T	0.15834	2.39	5.62	5.62	0.85841	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32971	0.0847	M	0.86740	2.835	0.80722	D	1	P	0.38395	0.629	P	0.45232	0.474	T	0.06409	-1.0828	10	0.37606	T	0.19	-17.3489	11.8517	0.52415	0.0807:0.0:0.9193:0.0	.	1401	O75643	U520_HUMAN	V	1401;35	ENSP00000317123:L1401V	ENSP00000317123:L1401V	L	-	1	0	SNRNP200	96314014	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.381000	0.73163	2.659000	0.90383	0.655000	0.94253	CTC	SNRNP200	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000144028		0.532	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	136	0.00	0	G	NM_014014		96950287	96950287	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	167	13.92	27	SNP	1.000	C
SOHLH2	54937	genome.wustl.edu	37	13	36748865	36748865	+	Missense_Mutation	SNP	C	C	G	rs201421116	byFrequency	TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:36748865C>G	ENST00000379881.3	-	7	871	c.783G>C	c.(781-783)atG>atC	p.M261I	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.M338I|SOHLH2_ENST00000554962.1_Missense_Mutation_p.M338I	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	261					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATACCTGGGCCATAACGGCTG	0.358																																						dbGAP											0													62.0	69.0	66.0					13																	36748865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.783G>C	13.37:g.36748865C>G	ENSP00000369210:p.Met261Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.M338I	ENST00000379881.3	37	c.1014	CCDS9355.1	13	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543304	0.45280	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.35048	1.34;1.33;1.33	5.11	5.11	0.69529	Helix-loop-helix DNA-binding (1);	0.408600	0.25860	N	0.027837	T	0.38295	0.1035	M	0.61703	1.905	0.09310	N	0.999993	B;B	0.25667	0.131;0.131	B;B	0.25140	0.058;0.058	T	0.39014	-0.9634	10	0.66056	D	0.02	-2.9625	14.041	0.64674	0.0:1.0:0.0:0.0	.	338;261	B4DX90;Q9NX45	.;SOLH2_HUMAN	I	261;338;338	ENSP00000369210:M261I;ENSP00000451542:M338I;ENSP00000421868:M338I	ENSP00000421868:M338I	M	-	3	0	CCDC169-SOHLH2;SOHLH2	35646865	0.852000	0.29690	0.056000	0.19401	0.033000	0.12548	3.811000	0.55620	2.392000	0.81423	0.650000	0.86243	ATG	SOHLH2	-	superfamily_HLH_DNA-bd	ENSG00000120669		0.358	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	84	0.00	0	C	NM_017826		36748865	36748865	-1	no_errors	ENST00000554962	ensembl	human	known	69_37n	missense	104	26.76	38	SNP	0.197	G
SON	6651	genome.wustl.edu	37	21	34922290	34922290	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:34922290T>C	ENST00000356577.4	+	3	1228	c.753T>C	c.(751-753)ccT>ccC	p.P251P	SON_ENST00000300278.4_Silent_p.P251P|SON_ENST00000381679.4_Silent_p.P251P|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.P251P	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	251					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CACCAGTGCCTACTACAACAC	0.468											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													123.0	115.0	118.0					21																	34922290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.753T>C	21.37:g.34922290T>C		Somatic	851	WXS	Illumina GAIIx	Phase_IV	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.P251	ENST00000356577.4	37	c.753	CCDS13629.1	21																																																																																			SON	-	NULL	ENSG00000159140		0.468	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	29	0.00	0	T	NM_138927		34922290	34922290	+1	no_errors	ENST00000356577	ensembl	human	known	69_37n	silent	21	30.00	9	SNP	0.096	C
SON	6651	genome.wustl.edu	37	21	34926937	34926937	+	Silent	SNP	C	C	T	rs201359372		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:34926937C>T	ENST00000356577.4	+	3	5875	c.5400C>T	c.(5398-5400)caC>caT	p.H1800H	SON_ENST00000300278.4_Silent_p.H1800H|SON_ENST00000381679.4_Silent_p.H1800H|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.H1800H	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1800					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGACACTCACGAAAAAAGCA	0.383																																						dbGAP											0													59.0	64.0	63.0					21																	34926937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5400C>T	21.37:g.34926937C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Ds-RNA-bd,smart_G_patch_dom,smart_Ds-RNA-bd,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.T795M	ENST00000356577.4	37	c.2384	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	T	3.095	-0.185965	0.06340	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.5	4.37	0.52481	.	.	.	.	.	T	0.58666	0.2138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54879	-0.8227	4	.	.	.	.	8.166	0.31226	0.0:0.1587:0.0:0.8413	.	.	.	.	M	795	.	.	T	+	2	0	SON	33848807	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.450000	0.35134	0.932000	0.37266	-0.254000	0.11334	ACG	SON	-	NULL	ENSG00000159140		0.383	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	18	0.00	0	C	NM_138927		34926937	34926937	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000436227	ensembl	human	novel	69_37n	missense	25	25.71	9	SNP	1.000	T
SPAG1	6674	genome.wustl.edu	37	8	101178092	101178092	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:101178092A>G	ENST00000388798.2	+	3	382	c.191A>G	c.(190-192)cAt>cGt	p.H64R	SPAG1_ENST00000520508.1_Missense_Mutation_p.H64R|SPAG1_ENST00000520643.1_Missense_Mutation_p.H64R|SPAG1_ENST00000251809.3_Missense_Mutation_p.H64R	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	64					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGTGAAAAGCATCTTCAAGCC	0.373																																						dbGAP											0													65.0	66.0	66.0					8																	101178092		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.191A>G	8.37:g.101178092A>G	ENSP00000373450:p.His64Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H64R	ENST00000388798.2	37	c.191	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	A	1.214	-0.628951	0.03610	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.49432	3.5;0.78;3.5;0.78	5.68	3.7	0.42460	.	0.293500	0.38492	N	0.001677	T	0.09642	0.0237	N	0.00088	-2.19	0.26573	N	0.973525	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.36504	-0.9745	10	0.02654	T	1	-0.9065	8.7826	0.34800	0.2723:0.0:0.7277:0.0	.	64;64	Q07617;G3XAM3	SPAG1_HUMAN;.	R	64	ENSP00000427716:H64R;ENSP00000251809:H64R;ENSP00000428070:H64R;ENSP00000373450:H64R	ENSP00000251809:H64R	H	+	2	0	SPAG1	101247268	1.000000	0.71417	0.984000	0.44739	0.892000	0.51952	3.509000	0.53386	0.604000	0.29930	-0.376000	0.06991	CAT	SPAG1	-	NULL	ENSG00000104450		0.373	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	52	0.00	0	A	NM_172218		101178092	101178092	+1	no_errors	ENST00000251809	ensembl	human	known	69_37n	missense	83	24.32	27	SNP	0.995	G
SPATA16	83893	genome.wustl.edu	37	3	172737320	172737320	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:172737320T>C	ENST00000351008.3	-	4	987	c.804A>G	c.(802-804)caA>caG	p.Q268Q		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	268					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACACTGTTGCTTGACGAAGAT	0.343																																						dbGAP											0													144.0	151.0	148.0					3																	172737320		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.804A>G	3.37:g.172737320T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	NULL	p.Q268	ENST00000351008.3	37	c.804	CCDS3221.1	3																																																																																			SPATA16	-	NULL	ENSG00000144962		0.343	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	140	0.00	0	T	NM_031955		172737320	172737320	-1	no_errors	ENST00000351008	ensembl	human	known	69_37n	silent	221	18.45	50	SNP	0.998	C
SPEF2	79925	genome.wustl.edu	37	5	35705894	35705894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:35705894delA	ENST00000356031.3	+	18	2803	c.2649delA	c.(2647-2649)gcafs	p.A883fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.A878fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.A878fs	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	883					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.K886fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGAAATAGCAAAAAAAAAGA	0.269																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)								35,46,3367		0,0,35,0,46,1643	20.0	18.0	18.0			-2.4	0.0	5		19	95,88,7525		0,1,94,0,87,3672	no	codingComplex	SPEF2	NM_024867.3		0,1,129,0,133,5315	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3742,2.3492,2.3664			35705894	130,134,10892	1785	4033	5818	-	-	-	SO:0001589	frameshift_variant	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2649delA	5.37:g.35705894delA	ENSP00000348314:p.Ala883fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.K886fs	ENST00000356031.3	37	c.2649	CCDS43309.1	5																																																																																			SPEF2	-	NULL	ENSG00000152582		0.269	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	37	0.00	0	A	NM_144722		35705894	35705894	+1	no_errors	ENST00000356031	ensembl	human	known	69_37n	frame_shift_del	36	35.71	20	DEL	0.129	-
SPNS2	124976	genome.wustl.edu	37	17	4434032	4434032	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:4434032C>T	ENST00000329078.3	+	4	889	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	227					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CAAGAACACGCGTACGCTCAT	0.632																																						dbGAP											0													68.0	61.0	63.0					17																	4434032		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.679C>T	17.37:g.4434032C>T	ENSP00000333292:p.Arg227Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R227C	ENST00000329078.3	37	c.679	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491699	0.64074	.	.	ENSG00000183018	ENST00000329078	T	0.70282	-0.47	3.92	2.83	0.33086	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.062435	0.64402	D	0.000016	D	0.85062	0.5611	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87239	0.2265	10	0.87932	D	0	.	10.5493	0.45079	0.2587:0.7413:0.0:0.0	.	227	Q8IVW8	SPNS2_HUMAN	C	227	ENSP00000333292:R227C	ENSP00000333292:R227C	R	+	1	0	SPNS2	4380781	0.794000	0.28838	0.926000	0.36857	0.770000	0.43624	1.659000	0.37387	2.130000	0.65690	0.561000	0.74099	CGT	SPNS2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000183018		0.632	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	36	0.00	0	C			4434032	4434032	+1	no_errors	ENST00000329078	ensembl	human	known	69_37n	missense	26	37.21	16	SNP	0.811	T
SPPL2B	56928	genome.wustl.edu	37	19	2344416	2344416	+	RNA	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:2344416T>C	ENST00000452401.2	+	0	1247							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						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)		CAGCCACCCGTGAGAAGGTGT	0.642																																						dbGAP											0													43.0	46.0	45.0					19																	2344416		2128	4219	6347	-	-	-			0				CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2344416T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	-	NULL	ENST00000452401.2	37	NULL		19																																																																																			SPPL2B	-	-	ENSG00000005206		0.642	SPPL2B-202	KNOWN	basic	processed_transcript	SPPL2B	HGNC	processed_transcript		67	0.00	0	T	NM_020172		2344416	2344416	+1	no_errors	ENST00000452401	ensembl	human	known	69_37n	rna	48	39.24	31	SNP	0.756	C
SPTA1	6708	genome.wustl.edu	37	1	158639290	158639290	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:158639290A>T	ENST00000368147.4	-	14	1921	c.1741T>A	c.(1741-1743)Tca>Aca	p.S581T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	581					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAAGCAATGACTCCTTCAGC	0.453																																						dbGAP											0													201.0	188.0	192.0					1																	158639290		1941	4139	6080	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1741T>A	1.37:g.158639290A>T	ENSP00000357129:p.Ser581Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S581T	ENST00000368147.4	37	c.1741	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454788	0.63290	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.58358	0.52;0.34	4.72	3.51	0.40186	.	0.000000	0.28284	N	0.015903	T	0.56514	0.1990	M	0.90759	3.145	0.44807	D	0.997815	P	0.44877	0.845	P	0.48770	0.589	T	0.62877	-0.6761	10	0.41790	T	0.15	.	11.0195	0.47709	0.8452:0.1548:0.0:0.0	.	581	P02549	SPTA1_HUMAN	T	581	ENSP00000357130:S581T;ENSP00000357129:S581T	ENSP00000357129:S581T	S	-	1	0	SPTA1	156905914	1.000000	0.71417	0.385000	0.26158	0.104000	0.19210	6.322000	0.72886	2.117000	0.64856	0.533000	0.62120	TCA	SPTA1	-	NULL	ENSG00000163554		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	129	0.00	0	A	NM_003126		158639290	158639290	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	190	19.25	46	SNP	1.000	T
SPTBN1	6711	genome.wustl.edu	37	2	54852083	54852083	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:54852083A>C	ENST00000356805.4	+	11	1606	c.1325A>C	c.(1324-1326)cAg>cCg	p.Q442P	SPTBN1_ENST00000333896.5_Missense_Mutation_p.Q429P	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	442					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGAAAACCAGCGTCTGGTG	0.507																																						dbGAP											0													73.0	75.0	75.0					2																	54852083		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1325A>C	2.37:g.54852083A>C	ENSP00000349259:p.Gln442Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q442P	ENST00000356805.4	37	c.1325	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854534	0.91355	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.51071	0.72;0.72;0.72	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.974;0.998	T	0.81908	-0.0717	10	0.87932	D	0	.	15.8534	0.78952	1.0:0.0:0.0:0.0	.	429;442	Q01082-3;Q01082	.;SPTB2_HUMAN	P	442;442;429	ENSP00000349259:Q442P;ENSP00000374630:Q442P;ENSP00000334156:Q429P	ENSP00000334156:Q429P	Q	+	2	0	SPTBN1	54705587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.154000	0.67381	0.533000	0.62120	CAG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.507	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	51	0.00	0	A			54852083	54852083	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	missense	49	37.18	29	SNP	1.000	C
SPTLC1	10558	genome.wustl.edu	37	9	94812243	94812243	+	Splice_Site	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:94812243T>A	ENST00000262554.2	-	9	892	c.887A>T	c.(886-888)aAt>aTt	p.N296I		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	296					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GGAACTTACATTGATTCCATA	0.403																																						dbGAP											0													149.0	135.0	140.0					9																	94812243		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.888+1A>T	9.37:g.94812243T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.N296I	ENST00000262554.2	37	c.887	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668907	0.29604	.	.	ENSG00000090054	ENST00000262554	D	0.90788	-2.73	4.54	-5.65	0.02459	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.389669	0.29459	N	0.012084	D	0.85071	0.5613	L	0.43152	1.355	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.29524	0.103;0.063	T	0.62455	-0.6851	10	0.72032	D	0.01	-2.7229	12.7285	0.57185	0.0:0.516:0.0:0.484	.	296;296	Q6NUL7;O15269	.;SPTC1_HUMAN	I	296	ENSP00000262554:N296I	ENSP00000262554:N296I	N	-	2	0	SPTLC1	93852064	1.000000	0.71417	0.460000	0.27093	0.495000	0.33615	2.038000	0.41184	-1.456000	0.01921	-0.490000	0.04691	AAT	SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000090054		0.403	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	72	0.00	0	T	NM_006415	Missense_Mutation	94812243	94812243	-1	no_errors	ENST00000262554	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	0.965	A
SPTLC3	55304	genome.wustl.edu	37	20	13145424	13145424	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:13145424G>T	ENST00000399002.2	+	12	1843	c.1569G>T	c.(1567-1569)atG>atT	p.M523I		NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	523					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TTGATGAAATGGGTGATCTCT	0.433																																						dbGAP											0													99.0	92.0	94.0					20																	13145424		1935	4120	6055	-	-	-	SO:0001583	missense	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1569G>T	20.37:g.13145424G>T	ENSP00000381968:p.Met523Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.M523I	ENST00000399002.2	37	c.1569	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304928	0.23736	.	.	ENSG00000172296	ENST00000399002	D	0.94184	-3.37	5.69	-1.3	0.09259	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.782840	0.03111	N	0.162529	T	0.77336	0.4115	N	0.01297	-0.9	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71374	-0.4612	10	0.10377	T	0.69	-0.4005	2.8557	0.05571	0.1948:0.2078:0.4791:0.1183	.	523	Q9NUV7	SPTC3_HUMAN	I	523	ENSP00000381968:M523I	ENSP00000381968:M523I	M	+	3	0	SPTLC3	13093424	0.839000	0.29477	0.528000	0.27938	0.938000	0.57974	-0.165000	0.09968	-0.117000	0.11872	0.655000	0.94253	ATG	SPTLC3	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000172296		0.433	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	84	0.00	0	G	NM_018327		13145424	13145424	+1	no_errors	ENST00000399002	ensembl	human	known	69_37n	missense	70	38.26	44	SNP	0.917	T
SRPK3	26576	genome.wustl.edu	37	X	153047249	153047249	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:153047249G>A	ENST00000370101.3	+	4	397	c.351G>A	c.(349-351)acG>acA	p.T117T	SRPK3_ENST00000393786.3_Silent_p.T117T|SRPK3_ENST00000370108.3_Silent_p.T117T|SRPK3_ENST00000489426.1_Silent_p.T184T|SRPK3_ENST00000370100.1_Silent_p.T75T|SRPK3_ENST00000370104.1_Silent_p.T117T	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATTACACGGAGACAGCTG	0.622																																					Esophageal Squamous(167;766 3400 32156)	dbGAP											0													124.0	96.0	105.0					X																	153047249		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.351G>A	X.37:g.153047249G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.R131Q	ENST00000370101.3	37	c.392	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	G	9.457	1.092158	0.20471	.	.	ENSG00000184343	ENST00000430541	.	.	.	5.93	-11.9	0.00025	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46665	-0.9175	4	.	.	.	-19.9285	1.7445	0.02959	0.438:0.1232:0.1784:0.2605	.	.	.	.	Q	131	.	.	R	+	2	0	SRPK3	152700443	0.000000	0.05858	0.062000	0.19696	0.923000	0.55619	-4.815000	0.00182	-3.571000	0.00139	-0.395000	0.06472	CGG	SRPK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000184343		0.622	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1	76	0.00	0	G	NM_014370		153047249	153047249	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430541	ensembl	human	putative	69_37n	missense	63	26.74	23	SNP	0.000	A
SRRM2	23524	genome.wustl.edu	37	16	2816852	2816852	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:2816852C>A	ENST00000301740.8	+	11	6872	c.6323C>A	c.(6322-6324)gCa>gAa	p.A2108E		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2108	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						CCTCCAGTAGCACTCAACAGT	0.517																																						dbGAP											0													195.0	176.0	183.0					16																	2816852		2198	4300	6498	-	-	-	SO:0001583	missense	0			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.6323C>A	16.37:g.2816852C>A	ENSP00000301740:p.Ala2108Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.A2108E	ENST00000301740.8	37	c.6323	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	9.827	1.187479	0.21870	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.33216	1.42	5.45	3.32	0.38043	.	0.202186	0.35096	N	0.003457	T	0.25568	0.0622	N	0.14661	0.345	0.21325	N	0.999724	P	0.52316	0.952	P	0.49140	0.601	T	0.10019	-1.0648	10	0.62326	D	0.03	-6.3994	13.2208	0.59885	0.0:0.6948:0.3052:0.0	.	2108	Q9UQ35	SRRM2_HUMAN	E	2108;1360	ENSP00000301740:A2108E	ENSP00000301740:A2108E	A	+	2	0	SRRM2	2756853	0.690000	0.27699	0.521000	0.27850	0.738000	0.42128	1.017000	0.29989	1.268000	0.44264	0.655000	0.94253	GCA	SRRM2	-	NULL	ENSG00000167978		0.517	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	51	0.00	0	C			2816852	2816852	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	34	49.25	33	SNP	0.369	A
ST6GALNAC2	10610	genome.wustl.edu	37	17	74566662	74566662	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:74566662A>G	ENST00000225276.5	-	6	1077	c.758T>C	c.(757-759)cTa>cCa	p.L253P	RP11-666A8.9_ENST00000588104.1_RNA|ST6GALNAC2_ENST00000586520.1_5'Flank	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	253					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						CCCTTTATCTAGGCCCTCAGG	0.582																																						dbGAP											0													61.0	52.0	55.0					17																	74566662		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.758T>C	17.37:g.74566662A>G	ENSP00000225276:p.Leu253Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12971	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L253P	ENST00000225276.5	37	c.758	CCDS11747.1	17	.	.	.	.	.	.	.	.	.	.	A	9.855	1.194658	0.22037	.	.	ENSG00000070731	ENST00000225276	T	0.29142	1.58	5.33	-5.14	0.02875	.	1.694510	0.02729	N	0.114898	T	0.08714	0.0216	N	0.01257	-0.925	0.09310	N	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.14896	-1.0456	10	0.35671	T	0.21	0.0312	0.1632	0.00105	0.3111:0.1911:0.1559:0.342	.	253	Q9UJ37	SIA7B_HUMAN	P	253	ENSP00000225276:L253P	ENSP00000225276:L253P	L	-	2	0	ST6GALNAC2	72078257	0.000000	0.05858	0.000000	0.03702	0.830000	0.47004	-0.995000	0.03712	-0.284000	0.09102	-0.415000	0.06103	CTA	ST6GALNAC2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000070731		0.582	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC2	HGNC	protein_coding	OTTHUMT00000450650.1	52	0.00	0	A	NM_006456		74566662	74566662	-1	no_errors	ENST00000225276	ensembl	human	known	69_37n	missense	74	13.95	12	SNP	0.000	G
STAB1	23166	genome.wustl.edu	37	3	52544367	52544367	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:52544367T>C	ENST00000321725.6	+	25	2707	c.2631T>C	c.(2629-2631)gcT>gcC	p.A877A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	877	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTCACAGGCTGAGTGTGTCC	0.597																																						dbGAP											0													106.0	96.0	99.0					3																	52544367		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2631T>C	3.37:g.52544367T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.A877	ENST00000321725.6	37	c.2631	CCDS33768.1	3																																																																																			STAB1	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000010327		0.597	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	118	0.00	0	T	NM_015136		52544367	52544367	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	silent	68	35.85	38	SNP	0.953	C
STAG3L4	64940	genome.wustl.edu	37	7	66774043	66774043	+	RNA	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:66774043T>A	ENST00000416602.2	+	0	484					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CATGATGACTTCCCTATGGAC	0.527																																						dbGAP											0													152.0	155.0	154.0					7																	66774043		2203	4300	6503	-	-	-			0					7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774043T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8W0	RNA	SNP	-	NULL	ENST00000416602.2	37	NULL		7	.	.	.	.	.	.	.	.	.	.	t	1.394	-0.579983	0.03854	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	0.0465	-0.093	0.13652	STAG (1);	0.354296	0.24996	N	0.033949	T	0.12178	0.0296	.	.	.	.	.	.	B	0.21452	0.056	B	0.23574	0.047	T	0.39272	-0.9622	7	0.02654	T	1	.	1.4493	0.02372	0.3301:0.0:0.3289:0.341	.	70	Q8TBR4	STG34_HUMAN	Y	70	.	ENSP00000408597:F70Y	F	+	2	0	STAG3L4	66411478	1.000000	0.71417	0.007000	0.13788	0.007000	0.05969	2.291000	0.43540	-1.642000	0.01521	-1.676000	0.00740	TTC	STAG3L4	-	-	ENSG00000106610		0.527	STAG3L4-001	KNOWN	basic	processed_transcript	STAG3L4	HGNC	pseudogene	OTTHUMT00000346611.1	163	0.00	0	T	NM_022906		66774043	66774043	+1	no_errors	ENST00000416602	ensembl	human	known	69_37n	rna	182	25.10	61	SNP	1.000	A
STARD7	56910	genome.wustl.edu	37	2	96852623	96852623	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:96852623T>C	ENST00000337288.5	-	8	1341	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	320	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AGAGTGGCCATGTGCAGCTTC	0.468																																						dbGAP											0													70.0	69.0	69.0					2																	96852623		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.958A>G	2.37:g.96852623T>C	ENSP00000338030:p.Met320Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.M320V	ENST00000337288.5	37	c.958	CCDS2017.2	2	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150741	0.37923	.	.	ENSG00000084090	ENST00000337288	T	0.75477	-0.94	5.84	4.68	0.58851	Lipid-binding START (3);START-like domain (1);	0.622870	0.18024	N	0.154151	T	0.55784	0.1942	N	0.11427	0.14	0.32816	D	0.502124	B	0.13145	0.007	B	0.15484	0.013	T	0.59005	-0.7535	10	0.40728	T	0.16	-8.5167	10.7102	0.45980	0.1426:0.0:0.0:0.8574	.	320	Q9NQZ5	STAR7_HUMAN	V	320	ENSP00000338030:M320V	ENSP00000338030:M320V	M	-	1	0	STARD7	96216350	0.999000	0.42202	0.928000	0.36995	0.994000	0.84299	2.856000	0.48341	1.017000	0.39495	0.533000	0.62120	ATG	STARD7	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000084090		0.468	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD7	HGNC	protein_coding	OTTHUMT00000252848.2	89	0.00	0	T			96852623	96852623	-1	no_errors	ENST00000337288	ensembl	human	known	69_37n	missense	69	36.11	39	SNP	0.849	C
STAT2	6773	genome.wustl.edu	37	12	56743379	56743379	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:56743379G>A	ENST00000314128.4	-	14	1274	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.S413S|STAT2_ENST00000418572.2_Silent_p.S413S			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	417					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TCACCTTATTGCTGCCCTTTC	0.547																																						dbGAP											0													136.0	124.0	128.0					12																	56743379		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1251C>T	12.37:g.56743379G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S417	ENST00000314128.4	37	c.1251	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000170581		0.547	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	107	0.00	0	G	NM_005419		56743379	56743379	-1	no_errors	ENST00000314128	ensembl	human	known	69_37n	silent	90	36.11	52	SNP	0.998	A
STK36	27148	genome.wustl.edu	37	2	219549920	219549920	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:219549920T>A	ENST00000295709.3	+	11	1628	c.1349T>A	c.(1348-1350)aTc>aAc	p.I450N	STK36_ENST00000392105.3_Missense_Mutation_p.I450N|STK36_ENST00000392106.2_Missense_Mutation_p.I450N|STK36_ENST00000440309.1_Missense_Mutation_p.I450N	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGCCAGCGCATCCAGAGTCAG	0.512																																						dbGAP											0													103.0	87.0	92.0					2																	219549920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1349T>A	2.37:g.219549920T>A	ENSP00000295709:p.Ile450Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I450N	ENST00000295709.3	37	c.1349	CCDS2421.1	2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603723	0.87157	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.76060	-0.99;-0.98;-0.99;-0.99	4.97	4.97	0.65823	.	0.160855	0.29355	N	0.012391	T	0.74981	0.3788	N	0.19112	0.55	0.40641	D	0.98194	D;D	0.65815	0.995;0.991	P;P	0.62560	0.904;0.804	T	0.79761	-0.1667	10	0.87932	D	0	-11.3873	14.0	0.64427	0.0:0.0:0.0:1.0	.	450;450	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	N	450	ENSP00000295709:I450N;ENSP00000375955:I450N;ENSP00000375954:I450N;ENSP00000394095:I450N	ENSP00000295709:I450N	I	+	2	0	STK36	219258164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.485000	0.66850	2.090000	0.63153	0.528000	0.53228	ATC	STK36	-	NULL	ENSG00000163482		0.512	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	75	0.00	0	T			219549920	219549920	+1	no_errors	ENST00000295709	ensembl	human	known	69_37n	missense	71	34.55	38	SNP	1.000	A
STK38L	23012	genome.wustl.edu	37	12	27470917	27470917	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:27470917A>G	ENST00000389032.3	+	11	1213	c.1044A>G	c.(1042-1044)gtA>gtG	p.V348V	STK38L_ENST00000539577.1_Silent_p.V255V	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CTCCAGAGGTACCTATATCTG	0.383																																						dbGAP											0													61.0	62.0	61.0					12																	27470917		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1044A>G	12.37:g.27470917A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,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	p.V348	ENST00000389032.3	37	c.1044	CCDS31761.1	12																																																																																			STK38L	-	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	ENSG00000211455		0.383	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38L	HGNC	protein_coding	OTTHUMT00000403297.1	44	0.00	0	A	NM_015000		27470917	27470917	+1	no_errors	ENST00000389032	ensembl	human	known	69_37n	silent	51	28.17	20	SNP	0.773	G
STOX1	219736	genome.wustl.edu	37	10	70641762	70641762	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:70641762T>C	ENST00000298596.6	+	2	442	c.359T>C	c.(358-360)gTa>gCa	p.V120A	STOX1_ENST00000399165.4_Missense_Mutation_p.V120A|STOX1_ENST00000399162.2_Missense_Mutation_p.V120A|STOX1_ENST00000399169.4_Missense_Mutation_p.V120A|STOX1_ENST00000421961.2_Missense_Mutation_p.V10A	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	120						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCTCAGTTCGTACCTTTGGGT	0.373																																						dbGAP											0													178.0	162.0	167.0					10																	70641762		1860	4096	5956	-	-	-	SO:0001583	missense	0			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.359T>C	10.37:g.70641762T>C	ENSP00000298596:p.Val120Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.V120A	ENST00000298596.6	37	c.359	CCDS41535.1	10	.	.	.	.	.	.	.	.	.	.	T	18.94	3.728796	0.69074	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000399162;ENST00000421961	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.57	5.57	0.84162	Storkhead-box protein, winged-helix domain (1);	0.144445	0.44097	U	0.000495	T	0.77968	0.4210	L	0.38531	1.155	0.45216	D	0.998222	B;P;P	0.50819	0.449;0.939;0.675	B;P;B	0.51453	0.107;0.67;0.107	T	0.79325	-0.1850	10	0.51188	T	0.08	.	16.0108	0.80402	0.0:0.0:0.0:1.0	.	120;120;120	Q6ZVD7-3;Q6ZVD7;Q6ZVD7-2	.;STOX1_HUMAN;.	A	120;120;120;120;10	ENSP00000382121:V120A;ENSP00000298596:V120A;ENSP00000382118:V120A;ENSP00000382115:V120A;ENSP00000394509:V10A	ENSP00000298596:V120A	V	+	2	0	STOX1	70311768	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.182000	0.71995	2.242000	0.73789	0.482000	0.46254	GTA	STOX1	-	pfam_Storkhead-box_winged-helix	ENSG00000165730		0.373	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX1	HGNC	protein_coding	OTTHUMT00000276849.3	155	0.00	0	T	NM_152709		70641762	70641762	+1	no_errors	ENST00000298596	ensembl	human	known	69_37n	missense	176	27.27	66	SNP	1.000	C
STRN	6801	genome.wustl.edu	37	2	37129876	37129876	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:37129876A>G	ENST00000263918.4	-	5	518	c.510T>C	c.(508-510)ggT>ggC	p.G170G	STRN_ENST00000379213.2_Silent_p.G158G	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	170					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TATCTGTATAACCCACCTCCT	0.353																																						dbGAP											0													139.0	139.0	139.0					2																	37129876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.510T>C	2.37:g.37129876A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G170	ENST00000263918.4	37	c.510	CCDS1784.1	2																																																																																			STRN	-	pfam_Striatin_N	ENSG00000115808		0.353	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	99	0.00	0	A			37129876	37129876	-1	no_errors	ENST00000263918	ensembl	human	known	69_37n	silent	102	14.29	17	SNP	0.924	G
SUCO	51430	genome.wustl.edu	37	1	172571219	172571219	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:172571219A>C	ENST00000263688.3	+	21	3253	c.3034A>C	c.(3034-3036)Agc>Cgc	p.S1012R	SUCO_ENST00000367723.4_Missense_Mutation_p.S1163R|SUCO_ENST00000608151.1_Missense_Mutation_p.S1164R|SUCO_ENST00000610051.1_Missense_Mutation_p.S641R	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1012					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGATCGACAAAGCTATCTTGT	0.333																																						dbGAP											0													150.0	138.0	142.0					1																	172571219		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3034A>C	1.37:g.172571219A>C	ENSP00000263688:p.Ser1012Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.S1164R	ENST00000263688.3	37	c.3490	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125899	0.77436	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.81	5.81	0.92471	.	0.117303	0.85682	D	0.000000	T	0.67211	0.2869	M	0.68952	2.095	0.45025	D	0.998049	D;P;D;P	0.71674	0.998;0.945;0.974;0.846	P;P;P;P	0.59221	0.854;0.695;0.572;0.475	T	0.69289	-0.5184	9	0.45353	T	0.12	-5.9067	14.9789	0.71296	1.0:0.0:0.0:0.0	.	641;1012;1164;1012	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	R	1164;1012	.	ENSP00000263688:S1012R	S	+	1	0	C1orf9	170837842	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.712000	0.68407	2.207000	0.71202	0.528000	0.53228	AGC	SUCO	-	NULL	ENSG00000094975		0.333	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	130	0.00	0	A	NM_016227		172571219	172571219	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	missense	187	20.09	47	SNP	1.000	C
SUGP1	57794	genome.wustl.edu	37	19	19414180	19414180	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:19414180T>C	ENST00000247001.5	-	6	1087	c.740A>G	c.(739-741)aAg>aGg	p.K247R	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	247					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TGCCTGCGACTTCTGTGCTTC	0.532																																						dbGAP											0													154.0	135.0	141.0					19																	19414180		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.740A>G	19.37:g.19414180T>C	ENSP00000247001:p.Lys247Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.K247R	ENST00000247001.5	37	c.740	CCDS12399.1	19	.	.	.	.	.	.	.	.	.	.	T	9.532	1.111033	0.20714	.	.	ENSG00000105705	ENST00000247001	T	0.22743	1.94	5.02	4.0	0.46444	.	0.344653	0.33792	N	0.004553	T	0.06142	0.0159	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22208	-1.0223	10	0.17369	T	0.5	.	6.3902	0.21583	0.0:0.1951:0.0:0.8049	.	247	Q8IWZ8	SUGP1_HUMAN	R	247	ENSP00000247001:K247R	ENSP00000247001:K247R	K	-	2	0	SUGP1	19275180	0.908000	0.30866	0.540000	0.28089	0.981000	0.71138	0.556000	0.23438	0.786000	0.33708	0.533000	0.62120	AAG	SUGP1	-	superfamily_Surp	ENSG00000105705		0.532	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	166	0.00	0	T	NM_021164		19414180	19414180	-1	no_errors	ENST00000247001	ensembl	human	known	69_37n	missense	169	18.36	38	SNP	0.849	C
SUN2	25777	genome.wustl.edu	37	22	39137537	39137537	+	Missense_Mutation	SNP	A	A	T	rs528746676		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:39137537A>T	ENST00000405510.1	-	11	1466	c.1108T>A	c.(1108-1110)Tca>Aca	p.S370T	SUN2_ENST00000405018.1_Missense_Mutation_p.S391T|SUN2_ENST00000406622.1_Missense_Mutation_p.S370T|RP3-508I15.22_ENST00000607991.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.S359T|RP3-508I15.18_ENST00000420118.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.S370T	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	370					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AGGTCTTCTGAGTCTTGCTGA	0.577																																						dbGAP											0													138.0	112.0	121.0					22																	39137537		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1108T>A	22.37:g.39137537A>T	ENSP00000385740:p.Ser370Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.S370T	ENST00000405510.1	37	c.1108	CCDS13978.1	22	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020923	0.35606	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.71	-1.94	0.07571	.	2.255530	0.01788	N	0.032139	T	0.18425	0.0442	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.25235	0.072;0.121;0.072;0.015;0.072	B;B;B;B;B	0.18871	0.023;0.023;0.023;0.014;0.014	T	0.19745	-1.0296	10	0.12430	T	0.62	2.9784	11.2185	0.48840	0.267:0.6583:0.0747:0.0	.	359;405;370;391;370	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	T	370;370;391;370;359	ENSP00000385740:S370T;ENSP00000216064:S370T;ENSP00000385616:S391T;ENSP00000383992:S370T;ENSP00000395601:S359T	ENSP00000216064:S370T	S	-	1	0	SUN2	37467483	0.008000	0.16893	0.001000	0.08648	0.762000	0.43233	-0.027000	0.12371	-0.681000	0.05204	-0.488000	0.04728	TCA	SUN2	-	NULL	ENSG00000100242		0.577	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	104	0.00	0	A	XM_039332		39137537	39137537	-1	no_errors	ENST00000216064	ensembl	human	known	69_37n	missense	110	10.57	13	SNP	0.000	T
SUPT5H	6829	genome.wustl.edu	37	19	39959502	39959502	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:39959502G>C	ENST00000599117.1	+	15	1510		c.e15+1		SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000359191.6_Splice_Site|SUPT5H_ENST00000432763.2_Splice_Site|SUPT5H_ENST00000402194.2_Splice_Site			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)						7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCTGCTGTGGTGAGGGTCCC	0.567																																						dbGAP											0													73.0	71.0	72.0					19																	39959502		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1143+1G>C	19.37:g.39959502G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43279|Q59G52|Q99639	Splice_Site	SNP	-	e13+1	ENST00000599117.1	37	c.1143+1	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642948	0.87859	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7775	0.88514	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUPT5H	44651342	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.459000	0.97638	2.512000	0.84698	0.557000	0.71058	.	SUPT5H	-	-	ENSG00000196235		0.567	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	87	0.00	0	G	NM_003169	Intron	39959502	39959502	+1	no_errors	ENST00000359191	ensembl	human	known	69_37n	splice_site	100	26.47	36	SNP	1.000	C
SUPT6H	6830	genome.wustl.edu	37	17	27017178	27017178	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:27017178T>C	ENST00000314616.6	+	26	3704	c.3421T>C	c.(3421-3423)Tac>Cac	p.Y1141H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.Y1141H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1141	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCGGACAGCCTACCGCTCTCC	0.478																																						dbGAP											0													110.0	105.0	106.0					17																	27017178		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3421T>C	17.37:g.27017178T>C	ENSP00000319104:p.Tyr1141His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.Y1141H	ENST00000314616.6	37	c.3421	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000729	0.93227	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.78	5.78	0.91487	.	0.056697	0.64402	D	0.000001	D	0.83986	0.5373	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.86718	0.1940	9	0.72032	D	0.01	-13.7511	16.3979	0.83621	0.0:0.0:0.0:1.0	.	1141	Q7KZ85	SPT6H_HUMAN	H	1141	.	ENSP00000319104:Y1141H	Y	+	1	0	SUPT6H	24041305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.443000	0.80521	2.333000	0.79357	0.533000	0.62120	TAC	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	57	0.00	0	T	NM_003170		27017178	27017178	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	missense	76	28.30	30	SNP	1.000	C
SUPV3L1	6832	genome.wustl.edu	37	10	70946251	70946251	+	Silent	SNP	T	T	G	rs374960016		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:70946251T>G	ENST00000359655.4	+	3	462	c.402T>G	c.(400-402)tcT>tcG	p.S134S	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	134					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTATGCAGTCTCATTCCCTGG	0.348																																						dbGAP											0													181.0	179.0	179.0					10																	70946251		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.402T>G	10.37:g.70946251T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K301|O43630	Silent	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.S134	ENST00000359655.4	37	c.402	CCDS7287.1	10																																																																																			SUPV3L1	-	NULL	ENSG00000156502		0.348	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	186	0.00	0	T	NM_003171		70946251	70946251	+1	no_errors	ENST00000359655	ensembl	human	known	69_37n	silent	233	23.86	73	SNP	0.996	G
SYN1	6853	genome.wustl.edu	37	X	47432291	47432291	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:47432291T>A	ENST00000295987.7	-	13	2214	c.2090A>T	c.(2089-2091)aAg>aTg	p.K697M	SYN1_ENST00000340666.4_3'UTR	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	697	E.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGCGAAAGACTTCCTCAGGCT	0.577																																						dbGAP											0													99.0	85.0	90.0					X																	47432291		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.2090A>T	X.37:g.47432291T>A	ENSP00000295987:p.Lys697Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJQ1|O75825|Q5H9A9	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.K697M	ENST00000295987.7	37	c.2090	CCDS14280.1	X	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867022	0.72065	.	.	ENSG00000008056	ENST00000295987	T	0.39229	1.09	4.78	4.78	0.61160	.	0.096363	0.38897	N	0.001528	T	0.65207	0.2669	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.70583	-0.4832	10	0.87932	D	0	-12.6509	11.554	0.50737	0.0:0.0:0.0:1.0	.	697	P17600	SYN1_HUMAN	M	697	ENSP00000295987:K697M	ENSP00000295987:K697M	K	-	2	0	SYN1	47317235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.295000	0.78780	1.698000	0.51180	0.437000	0.28790	AAG	SYN1	-	NULL	ENSG00000008056		0.577	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	119	0.00	0	T	NM_006950		47432291	47432291	-1	no_errors	ENST00000295987	ensembl	human	known	69_37n	missense	105	19.23	25	SNP	1.000	A
SYNCRIP	10492	genome.wustl.edu	37	6	86351110	86351110	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:86351110A>T	ENST00000369622.3	-	2	548	c.48T>A	c.(46-48)gaT>gaA	p.D16E	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.D16E	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	16					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CAGAAGTAGTATCCATGGGCT	0.368																																						dbGAP											0													89.0	83.0	85.0					6																	86351110		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.48T>A	6.37:g.86351110A>T	ENSP00000358635:p.Asp16Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.D16E	ENST00000369622.3	37	c.48	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	A	9.926	1.213530	0.22289	.	.	ENSG00000135316	ENST00000355238;ENST00000369622;ENST00000444272	T;T	0.26373	1.75;1.74	4.76	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.04407	0.0121	N	0.11560	0.145	0.49213	D	0.999769	B;B;B;B;B	0.17268	0.021;0.019;0.003;0.003;0.021	B;B;B;B;B	0.16722	0.007;0.016;0.01;0.005;0.007	T	0.24404	-1.0161	10	0.11182	T	0.66	.	9.1879	0.37182	0.8532:0.0:0.1467:0.0	.	16;16;16;16;16	O60506;O60506-2;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.	E	16	ENSP00000347380:D16E;ENSP00000358635:D16E	ENSP00000347380:D16E	D	-	3	2	SYNCRIP	86407829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.009000	0.49552	1.914000	0.55421	0.460000	0.39030	GAT	SYNCRIP	-	NULL	ENSG00000135316		0.368	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	102	0.00	0	A	NM_006372		86351110	86351110	-1	no_errors	ENST00000369622	ensembl	human	known	69_37n	missense	142	29.90	61	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152737585	152737585	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:152737585T>C	ENST00000367255.5	-	41	6588	c.5987A>G	c.(5986-5988)gAc>gGc	p.D1996G	SYNE1_ENST00000448038.1_Missense_Mutation_p.D2003G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2033G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1996G|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2003G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1996					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)		TTCTTCAATGTCCTCAATGCT	0.468										HNSCC(10;0.0054)																												dbGAP											0													255.0	268.0	264.0					6																	152737585		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5987A>G	6.37:g.152737585T>C	ENSP00000356224:p.Asp1996Gly	Somatic		WXS	Illumina GAIIx	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.D1996G	ENST00000367255.5	37	c.5987	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910689	0.72983	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	T	0.50051	0.1593	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.992;0.99	D;P;P;P	0.66084	0.941;0.767;0.767;0.81	T	0.44847	-0.9301	10	0.31617	T	0.26	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1979;1996;1996;2003	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	1996;2003;1996;2003;2033	ENSP00000356224:D1996G;ENSP00000396024:D2003G;ENSP00000265368:D1996G;ENSP00000390975:D2003G;ENSP00000341887:D2033G	ENSP00000265368:D1996G	D	-	2	0	SYNE1	152779278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	163	0.00	0	T	NM_182961		152737585	152737585	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	123	45.81	104	SNP	1.000	C
SYNE2	23224	genome.wustl.edu	37	14	64678806	64678806	+	Missense_Mutation	SNP	G	G	A	rs202157687		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:64678806G>A	ENST00000344113.4	+	104	19063	c.18851G>A	c.(18850-18852)cGc>cAc	p.R6284H	SYNE2_ENST00000555022.1_Missense_Mutation_p.R162H|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000554805.1_Missense_Mutation_p.R67H|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2669H|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6284H|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6243H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2918H|SYNE2_ENST00000357395.3_Missense_Mutation_p.R2669H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6284					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)		GACAAGATGCGCCAACTGAAT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		20363	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													125.0	118.0	120.0					14																	64678806		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.18851G>A	14.37:g.64678806G>A	ENSP00000341781:p.Arg6284His	Somatic		WXS	Illumina GAIIx	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.R6284H	ENST00000344113.4	37	c.18851	CCDS41963.1	14	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.61	2.587910	0.46110	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.33	5.33	0.75918	.	0.000000	0.49916	D	0.000140	T	0.56247	0.1972	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.944;0.972;0.994;0.996;0.991	T	0.56511	-0.7967	10	0.66056	D	0.02	.	19.3868	0.94560	0.0:0.0:1.0:0.0	.	2669;672;6243;6284;6284	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	H	6284;2669;6284;6243;6249;2918;2669;162;67	ENSP00000350719:R6284H;ENSP00000349969:R2669H;ENSP00000341781:R6284H;ENSP00000452570:R6243H;ENSP00000450831:R2918H;ENSP00000378249:R2669H;ENSP00000451009:R162H;ENSP00000450605:R67H	ENSP00000261678:R6249H	R	+	2	0	SYNE2	63748559	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	4.280000	0.58959	2.654000	0.90174	0.561000	0.74099	CGC	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.542	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	59	0.00	0	G	NM_182914		64678806	64678806	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	58	33.33	29	SNP	1.000	A
SYT8	90019	genome.wustl.edu	37	11	1858526	1858526	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:1858526G>A	ENST00000381968.3	+	9	1199	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000381905.3_5'Flank|SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000341958.3_Silent_p.Q343Q|TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	357					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCTGCAGCACTGGGCAG	0.741																																						dbGAP											0													15.0	17.0	16.0					11																	1858526		2168	4264	6432	-	-	-	SO:0001819	synonymous_variant	0			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1071G>A	11.37:g.1858526G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting	p.A356T	ENST00000381968.3	37	c.1066	CCDS7726.2	11	.	.	.	.	.	.	.	.	.	.	g	3.472	-0.107733	0.06924	.	.	ENSG00000149043	ENST00000381978	.	.	.	3.85	1.74	0.24563	.	.	.	.	.	T	0.59432	0.2193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54563	-0.8275	4	.	.	.	.	10.8682	0.46869	0.0877:0.2297:0.6826:0.0	.	.	.	.	T	356	.	.	A	+	1	0	SYT8	1815102	0.993000	0.37304	0.999000	0.59377	0.360000	0.29518	0.255000	0.18333	0.432000	0.26286	-1.401000	0.01141	GCA	SYT8	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000149043		0.741	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT8	HGNC	protein_coding	OTTHUMT00000025013.4	23	0.00	0	G			1858526	1858526	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000381978	ensembl	human	putative	69_37n	missense	13	51.85	14	SNP	0.998	A
TAAR1	134864	genome.wustl.edu	37	6	132966199	132966199	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:132966199A>G	ENST00000275216.1	-	1	943	c.944T>C	c.(943-945)cTg>cCg	p.L315P		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	315					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)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	CATCATCTTCAGTGCTTTTCT	0.303																																						dbGAP											0													48.0	47.0	48.0					6																	132966199		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.944T>C	6.37:g.132966199A>G	ENSP00000275216:p.Leu315Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt	p.L315P	ENST00000275216.1	37	c.944	CCDS5158.1	6	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989055	0.74589	.	.	ENSG00000146399	ENST00000275216	T	0.48522	0.81	5.94	5.94	0.96194	.	0.065317	0.64402	D	0.000008	T	0.63236	0.2494	M	0.82193	2.58	0.80722	D	1	D	0.71674	0.998	P	0.61201	0.885	T	0.70428	-0.4874	10	0.87932	D	0	-7.7003	16.3908	0.83537	1.0:0.0:0.0:0.0	.	315	Q96RJ0	TAAR1_HUMAN	P	315	ENSP00000275216:L315P	ENSP00000275216:L315P	L	-	2	0	TAAR1	133007892	0.933000	0.31639	0.998000	0.56505	0.996000	0.88848	7.458000	0.80787	2.269000	0.75478	0.455000	0.32223	CTG	TAAR1	-	pfam_7TM_GPCR_olfarory/Srsx	ENSG00000146399		0.303	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR1	HGNC	protein_coding	OTTHUMT00000042259.1	37	0.00	0	A	NM_138327		132966199	132966199	-1	no_errors	ENST00000275216	ensembl	human	known	69_37n	missense	60	11.76	8	SNP	0.989	G
TAF1B	9014	genome.wustl.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-	rs528368939		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aaafs	p.K65fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333																																						dbGAP											0										139,495,3606		1,2,135,2,489,1491	20.0	22.0	21.0			1.7	0.9	2		23	207,946,7081		0,0,207,0,946,2964	no	codingComplex	TAF1B	NM_005680.2		1,2,342,2,1435,4455	A1A1,A1A2,A1R,A2A2,A2R,RR		14.0029,14.9528,14.3258			9989571	346,1441,10687	2194	4292	6486	-	-	-	SO:0001589	frameshift_variant	0			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.187delA	2.37:g.9989571delA	ENSP00000263663:p.Lys65fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	pfam_TF_Rrn7	p.N66fs	ENST00000263663.5	37	c.187	CCDS33143.1	2																																																																																			TAF1B	-	NULL	ENSG00000115750		0.333	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	29	0.00	0	A	NM_005680		9989571	9989571	+1	no_errors	ENST00000263663	ensembl	human	known	69_37n	frame_shift_del	19	53.33	24	DEL	0.991	-
TANC1	85461	genome.wustl.edu	37	2	160007062	160007062	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:160007062T>A	ENST00000263635.6	+	7	914	c.677T>A	c.(676-678)aTt>aAt	p.I226N	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	226	Ser-rich.				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						GACAGTGGAATTATAGGTAAG	0.488																																						dbGAP											0													83.0	82.0	82.0					2																	160007062		1994	4186	6180	-	-	-	SO:0001583	missense	0			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.677T>A	2.37:g.160007062T>A	ENSP00000263635:p.Ile226Asn	Somatic		WXS	Illumina GAIIx	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.I226N	ENST00000263635.6	37	c.677	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	T	29.5	5.007904	0.93287	.	.	ENSG00000115183	ENST00000263635	T	0.60920	0.15	5.34	5.34	0.76211	.	0.250823	0.39687	N	0.001289	T	0.75910	0.3914	M	0.75264	2.295	0.80722	D	1	D;P	0.76494	0.999;0.918	D;P	0.83275	0.996;0.704	T	0.79371	-0.1831	10	0.87932	D	0	.	15.6273	0.76870	0.0:0.0:0.0:1.0	.	225;226	B9EK39;Q9C0D5	.;TANC1_HUMAN	N	226	ENSP00000263635:I226N	ENSP00000263635:I226N	I	+	2	0	TANC1	159715308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.964000	0.87933	2.153000	0.67306	0.460000	0.39030	ATT	TANC1	-	NULL	ENSG00000115183		0.488	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	49	0.00	0	T			160007062	160007062	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	missense	60	31.03	27	SNP	1.000	A
TAS2R41	259287	genome.wustl.edu	37	7	143175191	143175191	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:143175191T>C	ENST00000408916.1	+	1	226	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	76					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GAAGGTCGAGTACTCTGGGGG	0.552																																						dbGAP											0													111.0	111.0	111.0					7																	143175191		2003	4174	6177	-	-	-	SO:0001583	missense	0			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.226T>C	7.37:g.143175191T>C	ENSP00000386201:p.Tyr76His	Somatic		WXS	Illumina GAIIx	Phase_IV	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.Y76H	ENST00000408916.1	37	c.226	CCDS43663.1	7	.	.	.	.	.	.	.	.	.	.	T	3.829	-0.036169	0.07497	.	.	ENSG00000221855	ENST00000408916	T	0.00824	5.65	5.76	2.07	0.26955	.	0.470560	0.18596	U	0.136602	T	0.01222	0.0040	L	0.45581	1.43	0.09310	N	1	B	0.23650	0.089	B	0.28232	0.087	T	0.45190	-0.9278	10	0.31617	T	0.26	.	8.7499	0.34609	0.0:0.0745:0.1298:0.7957	.	76	P59536	T2R41_HUMAN	H	76	ENSP00000386201:Y76H	ENSP00000386201:Y76H	Y	+	1	0	TAS2R41	142885313	0.009000	0.17119	0.000000	0.03702	0.000000	0.00434	0.757000	0.26433	0.120000	0.18254	-2.065000	0.00396	TAC	TAS2R41	-	pfam_TAS2_rcpt	ENSG00000221855		0.552	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R41	HGNC	protein_coding	OTTHUMT00000342149.1	112	0.00	0	T			143175191	143175191	+1	no_errors	ENST00000408916	ensembl	human	known	69_37n	missense	109	27.81	42	SNP	0.000	C
TATDN1	83940	genome.wustl.edu	37	8	125507778	125507778	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:125507778A>G	ENST00000276692.6	-	10	636	c.599T>C	c.(598-600)cTg>cCg	p.L200P	TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_Missense_Mutation_p.L146P|TATDN1_ENST00000519548.1_Missense_Mutation_p.L153P	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	200					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCAGTTTTCAGTGAGCTTAA	0.289																																						dbGAP											0													33.0	34.0	33.0					8																	125507778		2198	4287	6485	-	-	-	SO:0001583	missense	0			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.599T>C	8.37:g.125507778A>G	ENSP00000276692:p.Leu200Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_TatD_superfamily,pirsf_DNase_TatD	p.L200P	ENST00000276692.6	37	c.599	CCDS6351.1	8	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577412	0.65878	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678	.	.	.	5.58	5.58	0.84498	.	0.075306	0.56097	D	0.000037	D	0.87180	0.6113	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91066	0.4889	9	0.87932	D	0	-24.1145	15.76	0.78073	1.0:0.0:0.0:0.0	.	236;200	E5RG17;Q6P1N9	.;TATD1_HUMAN	P	200;153;236;146	.	ENSP00000276692:L200P	L	-	2	0	TATDN1	125576959	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	8.655000	0.91098	2.125000	0.65367	0.528000	0.53228	CTG	TATDN1	-	pfam_TatD_superfamily,pirsf_DNase_TatD	ENSG00000147687		0.289	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN1	HGNC	protein_coding	OTTHUMT00000381655.1	41	0.00	0	A	NM_032026		125507778	125507778	-1	no_errors	ENST00000276692	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	1.000	G
TBATA	219793	genome.wustl.edu	37	10	72541685	72541685	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:72541685T>C	ENST00000299290.1	-	4	538	c.149A>G	c.(148-150)gAg>gGg	p.E50G	TBATA_ENST00000456372.2_Missense_Mutation_p.E50G|TBATA_ENST00000545575.1_Missense_Mutation_p.E40G	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	50					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											GCGGATCCGCTCGAAATCCAC	0.602																																						dbGAP											0													126.0	123.0	124.0					10																	72541685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.149A>G	10.37:g.72541685T>C	ENSP00000299290:p.Glu50Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	NULL	p.E50G	ENST00000299290.1	37	c.149	CCDS7308.1	10	.	.	.	.	.	.	.	.	.	.	T	13.80	2.346367	0.41599	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T	0.51817	0.69	5.39	2.95	0.34219	.	1.081050	0.07080	N	0.836820	T	0.56001	0.1956	L	0.57536	1.79	0.09310	N	1	P;D;B;B;P;B	0.58268	0.493;0.982;0.385;0.184;0.787;0.184	B;P;B;B;B;B	0.54889	0.079;0.763;0.189;0.098;0.298;0.098	T	0.35699	-0.9778	10	0.62326	D	0.03	-6.0594	5.771	0.18253	0.0:0.0882:0.168:0.7438	.	39;39;50;50;40;50	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;B7Z8I8;Q96M53	.;.;.;.;.;SPATL_HUMAN	G	50;37;50;40	ENSP00000299290:E50G	ENSP00000299290:E50G	E	-	2	0	C10orf27	72211691	0.011000	0.17503	0.010000	0.14722	0.188000	0.23474	0.641000	0.24720	0.393000	0.25203	0.482000	0.46254	GAG	TBATA	-	NULL	ENSG00000166220		0.602	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	102	0.97	1	T	NM_152710		72541685	72541685	-1	no_errors	ENST00000299290	ensembl	human	known	69_37n	missense	90	14.29	15	SNP	0.010	C
TBC1D12	23232	genome.wustl.edu	37	10	96271382	96271382	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:96271382T>C	ENST00000225235.4	+	9	1842	c.1732T>C	c.(1732-1734)Tac>Cac	p.Y578H	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	578	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTTAGGGGCATACACATGCTA	0.308																																						dbGAP											0													292.0	270.0	277.0					10																	96271382		1858	4096	5954	-	-	-	SO:0001583	missense	0			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1732T>C	10.37:g.96271382T>C	ENSP00000225235:p.Tyr578His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Y578H	ENST00000225235.4	37	c.1732	CCDS41553.1	10	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867123	0.72065	.	.	ENSG00000108239	ENST00000225235	T	0.07800	3.16	4.47	4.47	0.54385	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	H	0.95151	3.63	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.53878	-0.8376	10	0.87932	D	0	-12.174	12.0649	0.53581	0.0:0.0:0.0:1.0	.	578	O60347	TBC12_HUMAN	H	578	ENSP00000225235:Y578H	ENSP00000225235:Y578H	Y	+	1	0	TBC1D12	96261372	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.367000	0.73099	2.012000	0.59069	0.477000	0.44152	TAC	TBC1D12	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000108239		0.308	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D12	HGNC	protein_coding	OTTHUMT00000049482.2	201	0.00	0	T			96271382	96271382	+1	no_errors	ENST00000225235	ensembl	human	known	69_37n	missense	120	47.14	107	SNP	1.000	C
TBC1D15	64786	genome.wustl.edu	37	12	72300837	72300837	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:72300837T>C	ENST00000550746.1	+	12	1334	c.1270T>C	c.(1270-1272)Ttt>Ctt	p.F424L	TBC1D15_ENST00000393309.3_Missense_Mutation_p.F178L|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.F407L|TBC1D15_ENST00000319106.8_Missense_Mutation_p.F415L	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	424	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACAAACAAGTTTTATGAAGG	0.318																																						dbGAP											0													169.0	151.0	157.0					12																	72300837		2201	4299	6500	-	-	-	SO:0001583	missense	0			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1270T>C	12.37:g.72300837T>C	ENSP00000448182:p.Phe424Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F424L	ENST00000550746.1	37	c.1270	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	T	29.8	5.033189	0.93575	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	5.19	5.19	0.71726	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	M	0.64080	1.96	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.992	D;D;D	0.80764	0.994;0.99;0.96	T	0.00496	-1.1705	10	0.41790	T	0.15	-17.9779	15.0583	0.71933	0.0:0.0:0.0:1.0	.	415;407;424	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	L	424;415;407;178	ENSP00000448182:F424L;ENSP00000318262:F415L;ENSP00000420678:F407L;ENSP00000376986:F178L	ENSP00000318262:F415L	F	+	1	0	TBC1D15	70587104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.957000	0.56846	0.528000	0.53228	TTT	TBC1D15	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000121749		0.318	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	241	0.00	0	T	NM_022771		72300837	72300837	+1	no_errors	ENST00000550746	ensembl	human	known	69_37n	missense	229	18.44	52	SNP	1.000	C
TBC1D17	79735	genome.wustl.edu	37	19	50387588	50387588	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:50387588A>G	ENST00000221543.5	+	11	1504	c.1205A>G	c.(1204-1206)gAt>gGt	p.D402G	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D369G	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	402	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTGCTGAACGATATCCTCCTC	0.662																																						dbGAP											0													142.0	142.0	142.0					19																	50387588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1205A>G	19.37:g.50387588A>G	ENSP00000221543:p.Asp402Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D402G	ENST00000221543.5	37	c.1205	CCDS12785.1	19	.	.	.	.	.	.	.	.	.	.	A	17.99	3.522860	0.64747	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.04603	3.59;3.59	5.33	5.33	0.75918	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;0.975	D;P	0.79108	0.992;0.893	T	0.00247	-1.1881	10	0.49607	T	0.09	-38.3084	13.2357	0.59969	1.0:0.0:0.0:0.0	.	369;402	F5H1W7;Q9HA65	.;TBC17_HUMAN	G	402;369	ENSP00000221543:D402G;ENSP00000446323:D369G	ENSP00000221543:D402G	D	+	2	0	TBC1D17	55079400	1.000000	0.71417	0.999000	0.59377	0.089000	0.18198	8.620000	0.90943	2.019000	0.59389	0.459000	0.35465	GAT	TBC1D17	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000104946		0.662	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D17	HGNC	protein_coding	OTTHUMT00000466404.1	71	0.00	0	A	NM_024682		50387588	50387588	+1	no_errors	ENST00000221543	ensembl	human	known	69_37n	missense	45	45.24	38	SNP	1.000	G
TBKBP1	9755	genome.wustl.edu	37	17	45787926	45787926	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:45787926T>C	ENST00000361722.3	+	9	2631	c.1782T>C	c.(1780-1782)ccT>ccC	p.P594P		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						TGGGTTTCCCTGTCGGGTACC	0.597																																						dbGAP											0													50.0	56.0	54.0					17																	45787926		1983	4142	6125	-	-	-	SO:0001819	synonymous_variant	0			AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.1782T>C	17.37:g.45787926T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P594	ENST00000361722.3	37	c.1782	CCDS45722.1	17	.	.	.	.	.	.	.	.	.	.	T	10.36	1.327903	0.24080	.	.	ENSG00000198933	ENST00000537587	.	.	.	5.69	-8.54	0.00912	.	.	.	.	.	T	0.54240	0.1846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65212	-0.6223	5	0.44086	T	0.13	-10.7991	10.0261	0.42072	0.0986:0.6172:0.1001:0.184	.	.	.	.	R	219	.	ENSP00000446365:C219R	C	+	1	0	TBKBP1	43142925	0.012000	0.17670	0.390000	0.26220	0.985000	0.73830	-1.061000	0.03472	-1.666000	0.01475	0.379000	0.24179	TGT	TBKBP1	-	NULL	ENSG00000198933		0.597	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBKBP1	HGNC	protein_coding	OTTHUMT00000441363.1	21	0.00	0	T	NM_014726		45787926	45787926	+1	no_errors	ENST00000361722	ensembl	human	known	69_37n	silent	27	20.00	7	SNP	0.190	C
TBCD	6904	genome.wustl.edu	37	17	80755680	80755680	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:80755680T>C	ENST00000355528.4	+	8	947		c.e8+2		TBCD_ENST00000539345.2_Splice_Site|RP11-567O16.1_ENST00000576836.1_RNA|TBCD_ENST00000397466.2_Splice_Site	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D						'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGCCCTATGGTAAGGTTTATT	0.269																																						dbGAP											0													184.0	163.0	170.0					17																	80755680		1818	4078	5896	-	-	-	SO:0001630	splice_region_variant	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.817+2T>C	17.37:g.80755680T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Splice_Site	SNP	-	e8+2	ENST00000355528.4	37	c.817+2	CCDS45818.1	17	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094525	0.56075	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000536182	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8489	0.52399	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBCD	78348969	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	5.392000	0.66272	2.056000	0.61249	0.409000	0.27619	.	TBCD	-	-	ENSG00000141556		0.269	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	204	0.00	0	T	NM_005993	Intron	80755680	80755680	+1	no_errors	ENST00000355528	ensembl	human	known	69_37n	splice_site	367	19.35	89	SNP	1.000	C
TCERG1	10915	genome.wustl.edu	37	5	145838842	145838842	+	Silent	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:145838842C>A	ENST00000296702.5	+	4	872	c.834C>A	c.(832-834)acC>acA	p.T278T	TCERG1_ENST00000394421.2_Silent_p.T278T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	278	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCATCCACCCCTTCCTCTA	0.507																																						dbGAP											0													174.0	163.0	167.0					5																	145838842		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.834C>A	5.37:g.145838842C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKN2|Q59EA1	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.T278	ENST00000296702.5	37	c.834	CCDS4282.1	5																																																																																			TCERG1	-	NULL	ENSG00000113649		0.507	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	95	0.00	0	C	NM_001040006		145838842	145838842	+1	no_errors	ENST00000296702	ensembl	human	known	69_37n	silent	84	21.50	23	SNP	1.000	A
TCF12	6938	genome.wustl.edu	37	15	57524621	57524621	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:57524621A>G	ENST00000267811.5	+	10	1122	c.818A>G	c.(817-819)gAc>gGc	p.D273G	TCF12_ENST00000438423.2_Missense_Mutation_p.D273G|TCF12_ENST00000452095.2_Missense_Mutation_p.D269G|TCF12_ENST00000543579.1_Missense_Mutation_p.D103G|TCF12_ENST00000557843.1_Missense_Mutation_p.D273G|TCF12_ENST00000343827.3_Missense_Mutation_p.D103G|TCF12_ENST00000333725.5_Missense_Mutation_p.D273G|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000537840.1_Intron	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	273					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CATTCACATGACCGCTTGGTA	0.443			T	TEC	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0													172.0	156.0	161.0					15																	57524621		2192	4292	6484	-	-	-	SO:0001583	missense	0			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.818A>G	15.37:g.57524621A>G	ENSP00000267811:p.Asp273Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D273G	ENST00000267811.5	37	c.818	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	A	20.1	3.938545	0.73557	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000343827	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	6.02	6.02	0.97574	.	0.081748	0.85682	D	0.000000	T	0.69061	0.3069	M	0.73962	2.25	0.80722	D	1	D;B;D;B;P;P	0.71674	0.998;0.138;0.977;0.241;0.455;0.61	D;B;P;B;B;P	0.75484	0.986;0.044;0.846;0.094;0.163;0.501	T	0.69774	-0.5054	10	0.46703	T	0.11	-20.9394	16.542	0.84395	1.0:0.0:0.0:0.0	.	269;325;103;103;273;273	E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;HTF4_HUMAN;.	G	325;273;273;269;273;103;103	ENSP00000267811:D273G;ENSP00000388940:D273G;ENSP00000396881:D269G;ENSP00000331057:D273G;ENSP00000440017:D103G;ENSP00000342459:D103G	ENSP00000267811:D273G	D	+	2	0	TCF12	55311913	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.291000	0.96070	2.304000	0.77564	0.528000	0.53228	GAC	TCF12	-	NULL	ENSG00000140262		0.443	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	80	0.00	0	A	NM_003205		57524621	57524621	+1	no_errors	ENST00000438423	ensembl	human	known	69_37n	missense	74	30.84	33	SNP	1.000	G
TCF7L2	6934	genome.wustl.edu	37	10	114849235	114849235	+	Intron	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:114849235A>T	ENST00000355995.4	+	5	1059				TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000534894.1_Intron|TCF7L2_ENST00000352065.5_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000355717.4_Missense_Mutation_p.Q187L|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000369395.1_Missense_Mutation_p.Q188L|TCF7L2_ENST00000369397.4_Intron|TCF7L2_ENST00000349937.2_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						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)		GTCAGCACTCAAGTCTTCAGG	0.542			T	VTI1A	colorectal																																	dbGAP		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													55.0	51.0	52.0					10																	114849235		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			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.552+49350A>T	10.37:g.114849235A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q187L	ENST00000355995.4	37	c.560		10	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796454	0.31777	.	.	ENSG00000148737	ENST00000355717;ENST00000369395;ENST00000346198	D	0.99121	-5.45	4.46	-1.14	0.09741	.	0.654924	0.13474	N	0.385258	D	0.94791	0.8318	N	0.14661	0.345	0.80722	D	1	B;B;B	0.22146	0.002;0.009;0.065	B;B;B	0.26969	0.007;0.024;0.075	D	0.86564	0.1843	10	0.02654	T	1	.	12.0614	0.53564	0.3669:0.6331:0.0:0.0	.	57;82;187	B4DWD5;C6ZRJ6;F8W7T5	.;.;.	L	187;188;157	ENSP00000347949:Q187L	ENSP00000345640:Q157L	Q	+	2	0	TCF7L2	114839225	1.000000	0.71417	0.991000	0.47740	0.795000	0.44927	1.639000	0.37176	-0.166000	0.10890	-0.323000	0.08544	CAA	TCF7L2	-	pfam_CTNNB1-bd_N	ENSG00000148737		0.542	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		68	0.00	0	A	NM_030756		114849235	114849235	+1	no_errors	ENST00000355717	ensembl	human	known	69_37n	missense	52	28.38	21	SNP	0.993	T
TCF7L2	6934	genome.wustl.edu	37	10	114925317	114925317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:114925317delA	ENST00000355995.4	+	15	1953	c.1446delA	c.(1444-1446)agafs	p.R482fs	TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.R465fs|TCF7L2_ENST00000538897.1_Frame_Shift_Del_p.E458fs|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.R482fs|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000355717.4_Frame_Shift_Del_p.E465fs|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.R465fs|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.R198fs|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.R459fs|TCF7L2_ENST00000369389.1_Frame_Shift_Del_p.E152fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	482	Promoter-specific activation domain.				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)		TTTCTAGGAGAAAAAAAAAGT	0.522			T	VTI1A	colorectal																																	dbGAP		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													94.0	102.0	99.0					10																	114925317		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			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.1446delA	10.37:g.114925317delA	ENSP00000348274:p.Arg482fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Del	DEL	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.K485fs	ENST00000355995.4	37	c.1446		10																																																																																			TCF7L2	-	NULL	ENSG00000148737		0.522	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		8	0.00	0	A	NM_030756		114925317	114925317	+1	no_errors	ENST00000355995	ensembl	human	known	69_37n	frame_shift_del	9	30.77	4	DEL	1.000	-
TDRD12	91646	genome.wustl.edu	37	19	33222673	33222673	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:33222673A>G	ENST00000444215.2	+	2	387	c.67A>G	c.(67-69)Agt>Ggt	p.S23G	TDRD12_ENST00000421545.2_Missense_Mutation_p.S23G			Q587J7	TDR12_HUMAN	tudor domain containing 12	23					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			NS(1)|breast(1)|endometrium(3)|lung(2)|prostate(1)|skin(1)	9	Esophageal squamous(110;0.137)					AAAAGGGTGTAGTCCCTTTTT	0.323																																						dbGAP											0													127.0	101.0	109.0					19																	33222673		692	1591	2283	-	-	-	SO:0001583	missense	0			AK023134	CCDS46038.1	19q13.11	2013-01-23				ENSG00000173809		"""Tudor domain containing"""	25044	protein-coding gene	gene with protein product						11441184	Standard	NM_001110822		Approved	ECAT8, FLJ13072	uc002ntq.2	Q587J7		ENST00000444215.2:c.67A>G	19.37:g.33222673A>G	ENSP00000416248:p.Ser23Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.S23G	ENST00000444215.2	37	c.67		19	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915364	0.33815	.	.	ENSG00000173809	ENST00000444215;ENST00000421545	T	0.21543	2.0	5.67	2.48	0.30137	Maternal tudor protein (1);	0.308109	0.31246	N	0.007981	T	0.11665	0.0284	L	0.27053	0.805	0.09310	N	1	B;B	0.17268	0.021;0.001	B;B	0.15870	0.014;0.003	T	0.26155	-1.0111	10	0.18710	T	0.47	-7.3357	6.5457	0.22404	0.6939:0.0:0.3061:0.0	.	23;23	E9PAY0;Q587J7	.;TDR12_HUMAN	G	23	ENSP00000416248:S23G	ENSP00000390621:S23G	S	+	1	0	TDRD12	37914513	0.007000	0.16637	0.273000	0.24645	0.980000	0.70556	0.861000	0.27885	0.988000	0.38734	0.533000	0.62120	AGT	TDRD12	-	pfam_Tudor	ENSG00000173809		0.323	TDRD12-001	KNOWN	basic|appris_principal	protein_coding	TDRD12	HGNC	protein_coding	OTTHUMT00000435933.1	53	0.00	0	A	NM_001015890		33222673	33222673	+1	no_errors	ENST00000444215	ensembl	human	known	69_37n	missense	63	31.52	29	SNP	0.005	G
TDRD5	163589	genome.wustl.edu	37	1	179587762	179587762	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:179587762C>T	ENST00000367614.1	+	5	1219	c.860C>T	c.(859-861)gCa>gTa	p.A287V	TDRD5_ENST00000444136.1_Missense_Mutation_p.A287V|TDRD5_ENST00000294848.8_Missense_Mutation_p.A287V	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	287					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCAGTTATTGCACAGATTGGA	0.328																																						dbGAP											0													62.0	67.0	65.0					1																	179587762		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.860C>T	1.37:g.179587762C>T	ENSP00000356586:p.Ala287Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.A287V	ENST00000367614.1	37	c.860	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352828	0.41700	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.10573	2.86;2.86;3.0	4.77	3.84	0.44239	.	0.357546	0.25400	N	0.030959	T	0.05731	0.0150	N	0.19112	0.55	0.28609	N	0.90877	B;B	0.27166	0.17;0.062	B;B	0.23419	0.046;0.021	T	0.30765	-0.9967	10	0.10636	T	0.68	-5.7224	8.2472	0.31695	0.0:0.8918:0.0:0.1082	.	287;287	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	V	287	ENSP00000356586:A287V;ENSP00000294848:A287V;ENSP00000406052:A287V	ENSP00000294848:A287V	A	+	2	0	TDRD5	177854385	0.996000	0.38824	1.000000	0.80357	0.977000	0.68977	1.498000	0.35660	2.346000	0.79739	0.563000	0.77884	GCA	TDRD5	-	NULL	ENSG00000162782		0.328	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	59	0.00	0	C	NM_173533		179587762	179587762	+1	no_errors	ENST00000444136	ensembl	human	known	69_37n	missense	100	12.93	15	SNP	1.000	T
TDRD7	23424	genome.wustl.edu	37	9	100245337	100245337	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:100245337T>C	ENST00000355295.4	+	15	2914	c.2619T>C	c.(2617-2619)acT>acC	p.T873T	TDRD7_ENST00000422139.2_Silent_p.T799T|TDRD7_ENST00000540902.1_Silent_p.T193T	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	873	Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CGGGCAACACTGGAGAGAATT	0.488																																						dbGAP											0													65.0	62.0	63.0					9																	100245337		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2619T>C	9.37:g.100245337T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.T873	ENST00000355295.4	37	c.2619	CCDS6725.1	9																																																																																			TDRD7	-	NULL	ENSG00000196116		0.488	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	HGNC	protein_coding	OTTHUMT00000053322.1	46	0.00	0	T	NM_014290		100245337	100245337	+1	no_errors	ENST00000355295	ensembl	human	known	69_37n	silent	75	13.79	12	SNP	0.041	C
TEKT2	27285	genome.wustl.edu	37	1	36551436	36551436	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:36551436G>C	ENST00000207457.3	+	4	409		c.e4-1			NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)						cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTTTTCTAGATGAAGGAGT	0.577																																						dbGAP											0													34.0	34.0	34.0					1																	36551436		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.283-1G>C	1.37:g.36551436G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIS6|O60638	Splice_Site	SNP	-	e3-1	ENST00000207457.3	37	c.283-1	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030111	0.75504	.	.	ENSG00000092850	ENST00000207457	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEKT2	36324023	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	9.483000	0.97937	2.733000	0.93635	0.655000	0.94253	.	TEKT2	-	-	ENSG00000092850		0.577	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	45	0.00	0	G	NM_014466	Intron	36551436	36551436	+1	no_errors	ENST00000207457	ensembl	human	known	69_37n	splice_site	43	32.81	21	SNP	1.000	C
TEKT5	146279	genome.wustl.edu	37	16	10775958	10775958	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:10775958T>C	ENST00000283025.2	-	4	826	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	252						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GTCTTCGAGGTCCCTCTCCAG	0.537																																						dbGAP											0													234.0	188.0	203.0					16																	10775958		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.755A>G	16.37:g.10775958T>C	ENSP00000283025:p.Asp252Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Z3	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.D252G	ENST00000283025.2	37	c.755	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927134	0.52759	.	.	ENSG00000153060	ENST00000283025	T	0.09255	3.0	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000016	T	0.40119	0.1104	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49753	-0.8906	10	0.87932	D	0	-39.3855	13.6181	0.62121	0.0:0.0:0.0:1.0	.	252	Q96M29	TEKT5_HUMAN	G	252	ENSP00000283025:D252G	ENSP00000283025:D252G	D	-	2	0	TEKT5	10683459	1.000000	0.71417	0.940000	0.37924	0.036000	0.12997	7.174000	0.77620	1.889000	0.54706	0.533000	0.62120	GAC	TEKT5	-	pfam_Tektin	ENSG00000153060		0.537	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	122	0.00	0	T	NM_144674		10775958	10775958	-1	no_errors	ENST00000283025	ensembl	human	known	69_37n	missense	126	27.59	48	SNP	0.996	C
TEPP	374739	genome.wustl.edu	37	16	58018605	58018605	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:58018605G>T	ENST00000441824.2	+	4	553	c.516G>T	c.(514-516)gcG>gcT	p.A172A	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000290871.5_Silent_p.A172A	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	172						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CGCCCATCGCGCCAGGCATCA	0.677																																						dbGAP											0													26.0	24.0	24.0					16																	58018605		2193	4295	6488	-	-	-	SO:0001819	synonymous_variant	0			BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.516G>T	16.37:g.58018605G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6URK7	Silent	SNP	NULL	p.A172	ENST00000441824.2	37	c.516	CCDS45496.1	16																																																																																			TEPP	-	NULL	ENSG00000159648		0.677	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEPP	HGNC	protein_coding	OTTHUMT00000431966.1	23	0.00	0	G	NM_199456		58018605	58018605	+1	no_errors	ENST00000290871	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	0.037	T
TET2	54790	genome.wustl.edu	37	4	106196748	106196748	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:106196748T>C	ENST00000540549.1	+	11	5941	c.5081T>C	c.(5080-5082)tTa>tCa	p.L1694S	TET2_ENST00000380013.4_Missense_Mutation_p.L1694S|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.L1715S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1694					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCTAAATACTTAGGTTATGGA	0.418			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													112.0	96.0	101.0					4																	106196748		692	1591	2283	-	-	-	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5081T>C	4.37:g.106196748T>C	ENSP00000442788:p.Leu1694Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.L1694S	ENST00000540549.1	37	c.5081	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521764	0.64747	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.02974	4.09;4.09;4.09	4.95	4.95	0.65309	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.10423	0.0255	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.977	T	0.08576	-1.0715	9	0.42905	T	0.14	-6.6802	14.6448	0.68754	0.0:0.0:0.0:1.0	.	1715;1694	E7EQS8;Q6N021	.;TET2_HUMAN	S	1694;1715;1694	ENSP00000442788:L1694S;ENSP00000425443:L1715S;ENSP00000369351:L1694S	ENSP00000369351:L1694S	L	+	2	0	TET2	106416197	1.000000	0.71417	0.709000	0.30452	0.992000	0.81027	5.102000	0.64572	1.850000	0.53721	0.383000	0.25322	TTA	TET2	-	NULL	ENSG00000168769		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	65	0.00	0	T	NM_017628		106196748	106196748	+1	no_errors	ENST00000380013	ensembl	human	known	69_37n	missense	65	30.85	29	SNP	0.991	C
TEX15	56154	genome.wustl.edu	37	8	30701524	30701524	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:30701524T>C	ENST00000256246.2	-	1	5084	c.5010A>G	c.(5008-5010)gtA>gtG	p.V1670V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1670					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGTTTTGGTCTACCAACAGTT	0.343																																						dbGAP											0													101.0	102.0	102.0					8																	30701524		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5010A>G	8.37:g.30701524T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V1670	ENST00000256246.2	37	c.5010	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	91	0.00	0	T			30701524	30701524	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	silent	114	27.39	43	SNP	0.306	C
TGFBI	7045	genome.wustl.edu	37	5	135382083	135382083	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr5:135382083C>A	ENST00000442011.2	+	4	519	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Missense_Mutation_p.L120M	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	120	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCACTCAGCTGTACACGGA	0.627																																						dbGAP											0													59.0	60.0	60.0					5																	135382083		2013	4172	6185	-	-	-	SO:0001583	missense	0			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.358C>A	5.37:g.135382083C>A	ENSP00000416330:p.Leu120Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain	p.L120M	ENST00000442011.2	37	c.358	CCDS47266.1	5	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463257	0.43736	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.92397	-3.03;-3.03	5.83	5.83	0.93111	FAS1 domain (3);	0.167671	0.50627	D	0.000118	D	0.84520	0.5490	N	0.11427	0.14	0.46631	D	0.999138	P	0.36354	0.549	B	0.39068	0.289	D	0.83396	0.0020	10	0.28530	T	0.3	-3.1983	13.3322	0.60495	0.0:0.9283:0.0:0.0717	.	120	Q15582	BGH3_HUMAN	M	120	ENSP00000416330:L120M;ENSP00000306306:L120M	ENSP00000306306:L120M	L	+	1	2	TGFBI	135409982	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.204000	0.42761	2.763000	0.94921	0.561000	0.74099	CTG	TGFBI	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,superfamily_FAS1_domain,pfscan_FAS1_domain	ENSG00000120708		0.627	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	36	0.00	0	C			135382083	135382083	+1	no_errors	ENST00000305126	ensembl	human	known	69_37n	missense	23	37.84	14	SNP	1.000	A
THADA	63892	genome.wustl.edu	37	2	43655254	43655254	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:43655254A>T	ENST00000405006.4	-	28	4394	c.4043T>A	c.(4042-4044)gTt>gAt	p.V1348D	THADA_ENST00000415080.2_Missense_Mutation_p.V1029D|THADA_ENST00000330266.7_Missense_Mutation_p.V1058D|THADA_ENST00000405975.2_Missense_Mutation_p.V1348D|THADA_ENST00000485353.1_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1348										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AATGAAGGGAACAAAAGGTCC	0.418																																						dbGAP											0													84.0	82.0	82.0					2																	43655254		2001	4172	6173	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4043T>A	2.37:g.43655254A>T	ENSP00000385995:p.Val1348Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.V1348D	ENST00000405006.4	37	c.4043	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271826	0.80469	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000415080;ENST00000405006	T;T;T;T	0.67523	1.27;-0.27;-0.27;-0.27	5.65	4.47	0.54385	Armadillo-type fold (1);	0.633514	0.16195	N	0.225198	T	0.72550	0.3474	L	0.57536	1.79	0.45777	D	0.998664	D;D;P	0.55385	0.964;0.971;0.924	P;P;P	0.54499	0.754;0.649;0.564	T	0.73313	-0.4022	10	0.87932	D	0	.	11.1905	0.48681	0.8622:0.0:0.0:0.1378	.	1027;1029;1348	Q6YHU6-2;C9JJB1;Q6YHU6	.;.;THADA_HUMAN	D	1058;1348;1029;1348	ENSP00000331105:V1058D;ENSP00000386088:V1348D;ENSP00000416048:V1029D;ENSP00000385995:V1348D	ENSP00000331105:V1058D	V	-	2	0	THADA	43508758	1.000000	0.71417	0.733000	0.30861	0.923000	0.55619	6.801000	0.75170	1.105000	0.41606	0.533000	0.62120	GTT	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	44	0.00	0	A	NM_022065		43655254	43655254	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	0.961	T
THAP1	55145	genome.wustl.edu	37	8	42693202	42693202	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:42693202T>C	ENST00000254250.3	-	3	775	c.545A>G	c.(544-546)gAg>gGg	p.E182G	THAP1_ENST00000532093.1_5'Flank|THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	182					cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|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(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGAACAACCTCCTTTAATTT	0.398																																						dbGAP											0													123.0	120.0	121.0					8																	42693202		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.545A>G	8.37:g.42693202T>C	ENSP00000254250:p.Glu182Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E182G	ENST00000254250.3	37	c.545	CCDS6136.1	8	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926406	0.52759	.	.	ENSG00000131931	ENST00000254250	T	0.77750	-1.12	5.52	5.52	0.82312	.	0.207906	0.49916	D	0.000129	T	0.62732	0.2452	L	0.27053	0.805	0.80722	D	1	B	0.30326	0.276	B	0.19666	0.026	T	0.62086	-0.6928	10	0.36615	T	0.2	-33.5081	10.3164	0.43740	0.0:0.0739:0.0:0.9261	.	182	Q9NVV9	THAP1_HUMAN	G	182	ENSP00000254250:E182G	ENSP00000254250:E182G	E	-	2	0	THAP1	42812359	1.000000	0.71417	0.988000	0.46212	0.932000	0.56968	3.775000	0.55349	2.225000	0.72522	0.477000	0.44152	GAG	THAP1	-	NULL	ENSG00000131931		0.398	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP1	HGNC	protein_coding	OTTHUMT00000383161.1	114	0.00	0	T	NM_018105		42693202	42693202	-1	no_errors	ENST00000254250	ensembl	human	known	69_37n	missense	137	21.71	38	SNP	0.999	C
THAP2	83591	genome.wustl.edu	37	12	72070747	72070747	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:72070747A>G	ENST00000308086.2	+	3	2047	c.546A>G	c.(544-546)ttA>ttG	p.L182L	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	182						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ATAGTGTATTACCTAAAGGTA	0.373																																						dbGAP											0													91.0	83.0	86.0					12																	72070747		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.546A>G	12.37:g.72070747A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8P3	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.L182	ENST00000308086.2	37	c.546	CCDS9001.1	12																																																																																			THAP2	-	NULL	ENSG00000173451		0.373	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP2	HGNC	protein_coding	OTTHUMT00000404796.1	43	0.00	0	A	NM_031435		72070747	72070747	+1	no_errors	ENST00000308086	ensembl	human	known	69_37n	silent	20	28.57	8	SNP	0.970	G
THEMIS	387357	genome.wustl.edu	37	6	128134626	128134626	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:128134626T>C	ENST00000368248.2	-	4	1308	c.1160A>G	c.(1159-1161)gAc>gGc	p.D387G	THEMIS_ENST00000543064.1_Missense_Mutation_p.D387G|THEMIS_ENST00000368250.1_Missense_Mutation_p.D308G|THEMIS_ENST00000537166.1_Missense_Mutation_p.D352G	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	387	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGAAACTGGTCCCCAACAGA	0.478																																						dbGAP											0													92.0	93.0	93.0					6																	128134626		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1160A>G	6.37:g.128134626T>C	ENSP00000357231:p.Asp387Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.D387G	ENST00000368248.2	37	c.1160	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192390	0.58017	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.69	5.69	0.88448	.	0.051902	0.85682	D	0.000000	T	0.33556	0.0867	M	0.82323	2.585	0.50039	D	0.999844	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.26326	-1.0106	10	0.87932	D	0	-20.0351	15.9502	0.79827	0.0:0.0:0.0:1.0	.	387;387	F5H1J9;Q8N1K5	.;THMS1_HUMAN	G	308;387;387;352	ENSP00000357233:D308G;ENSP00000439594:D387G;ENSP00000357231:D387G;ENSP00000439863:D352G	ENSP00000357231:D387G	D	-	2	0	THEMIS	128176319	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	6.396000	0.73234	2.167000	0.68274	0.460000	0.39030	GAC	THEMIS	-	NULL	ENSG00000172673		0.478	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		62	0.00	0	T	NM_001010923		128134626	128134626	-1	no_errors	ENST00000543064	ensembl	human	known	69_37n	missense	80	31.93	38	SNP	1.000	C
THOC2	57187	genome.wustl.edu	37	X	122765548	122765548	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:122765548A>G	ENST00000245838.8	-	22	2503	c.2472T>C	c.(2470-2472)caT>caC	p.H824H	THOC2_ENST00000491737.1_Silent_p.H709H|THOC2_ENST00000355725.4_Silent_p.H824H	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	824					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCGAAATATGATGGGCATACA	0.373																																						dbGAP											0													185.0	168.0	173.0					X																	122765548		1886	4105	5991	-	-	-	SO:0001819	synonymous_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2472T>C	X.37:g.122765548A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.H824	ENST00000245838.8	37	c.2472	CCDS43988.1	X																																																																																			THOC2	-	NULL	ENSG00000125676		0.373	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	83	0.00	0	A			122765548	122765548	-1	no_errors	ENST00000245838	ensembl	human	known	69_37n	silent	84	33.86	43	SNP	0.997	G
THUMPD3	25917	genome.wustl.edu	37	3	9412821	9412821	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:9412821T>C	ENST00000345094.3	+	4	742	c.408T>C	c.(406-408)aaT>aaC	p.N136N	THUMPD3_ENST00000452837.2_Silent_p.N136N|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.N136N	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	136						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGAAAATTAATGCCAGTTTTA	0.333																																						dbGAP											0													62.0	73.0	69.0					3																	9412821		2193	4298	6491	-	-	-	SO:0001819	synonymous_variant	0			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.408T>C	3.37:g.9412821T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8V6|Q9NVC1|Q9UFS3	Silent	SNP	pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP	p.N136	ENST00000345094.3	37	c.408	CCDS2573.1	3																																																																																			THUMPD3	-	NULL	ENSG00000134077		0.333	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD3	HGNC	protein_coding	OTTHUMT00000214127.1	36	0.00	0	T	NM_015453		9412821	9412821	+1	no_errors	ENST00000345094	ensembl	human	known	69_37n	silent	42	27.12	16	SNP	0.354	C
TJAP1	93643	genome.wustl.edu	37	6	43473343	43473343	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:43473343C>A	ENST00000372445.5	+	11	1800	c.1424C>A	c.(1423-1425)cCt>cAt	p.P475H	TJAP1_ENST00000372452.1_Missense_Mutation_p.P465H|TJAP1_ENST00000372444.2_Missense_Mutation_p.P465H|TJAP1_ENST00000372449.1_Missense_Mutation_p.P475H|TJAP1_ENST00000259751.1_Missense_Mutation_p.P465H|TJAP1_ENST00000436109.2_Missense_Mutation_p.P465H|TJAP1_ENST00000438588.2_Missense_Mutation_p.P475H|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	475					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCACAGAACCTGACTCTGGC	0.587																																						dbGAP											0													83.0	83.0	83.0					6																	43473343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1424C>A	6.37:g.43473343C>A	ENSP00000361522:p.Pro475His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	NULL	p.P475H	ENST00000372445.5	37	c.1424	CCDS55004.1	6	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109151	0.20714	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.2	4.32	0.51571	.	0.600314	0.18679	N	0.134213	T	0.21590	0.0520	L	0.36672	1.1	0.09310	N	1	P;P	0.40875	0.731;0.731	B;B	0.42555	0.391;0.391	T	0.08066	-1.0740	9	0.28530	T	0.3	-31.8973	15.4486	0.75253	0.0:0.5786:0.4214:0.0	.	475;465	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	H	465;475;465;465;465;465;475;475	.	ENSP00000259751:P465H	P	+	2	0	TJAP1	43581321	0.000000	0.05858	0.344000	0.25628	0.806000	0.45545	0.712000	0.25779	1.286000	0.44565	0.563000	0.77884	CCT	TJAP1	-	NULL	ENSG00000137221		0.587	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	HGNC	protein_coding	OTTHUMT00000040629.1	17	0.00	0	C	NM_080604		43473343	43473343	+1	no_errors	ENST00000372445	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.016	A
TJP2	9414	genome.wustl.edu	37	9	71827470	71827470	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:71827470G>T	ENST00000377245.4	+	2	275	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C	TJP2_ENST00000348208.4_Missense_Mutation_p.G23C|TJP2_ENST00000535702.1_Missense_Mutation_p.G27C|TJP2_ENST00000539225.1_Missense_Mutation_p.G54C|TJP2_ENST00000453658.2_5'UTR|TJP2_ENST00000265384.7_Missense_Mutation_p.G23C|TJP2_ENST00000377259.1_5'UTR	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	23					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						ACAGGCCCCAGGCATGGAAGA	0.373																																						dbGAP											0													143.0	131.0	135.0					9																	71827470		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.67G>T	9.37:g.71827470G>T	ENSP00000366453:p.Gly23Cys	Somatic		WXS	Illumina GAIIx	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.G54C	ENST00000377245.4	37	c.160	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519253	0.85495	.	.	ENSG00000119139	ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T	0.09723	2.98;3.0;2.99;2.95;2.96	5.5	5.5	0.81552	PDZ/DHR/GLGF (1);	0.194214	0.43416	D	0.000573	T	0.14657	0.0354	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.89917	0.964;1.0;1.0;0.999;0.983	P;D;D;D;P	0.68943	0.753;0.961;0.961;0.915;0.834	T	0.15867	-1.0422	10	0.59425	D	0.04	.	12.705	0.57056	0.0752:0.0:0.9248:0.0	.	54;27;23;23;23	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	C	23;23;23;27;54	ENSP00000366453:G23C;ENSP00000345893:G23C;ENSP00000265384:G23C;ENSP00000442090:G27C;ENSP00000438262:G54C	ENSP00000265384:G23C	G	+	1	0	TJP2	71017290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.909000	0.87444	2.574000	0.86865	0.655000	0.94253	GGC	TJP2	-	NULL	ENSG00000119139		0.373	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	73	0.00	0	G	NM_201629		71827470	71827470	+1	no_errors	ENST00000539225	ensembl	human	known	69_37n	missense	108	11.48	14	SNP	1.000	T
TLN2	83660	genome.wustl.edu	37	15	62990999	62990999	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:62990999A>G	ENST00000561311.1	+	15	1750	c.1520A>G	c.(1519-1521)cAc>cGc	p.H507R	TLN2_ENST00000306829.6_Missense_Mutation_p.H507R			Q9Y4G6	TLN2_HUMAN	talin 2	507					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAGCATGCACGCCGTCCAG	0.562																																						dbGAP											0													87.0	71.0	76.0					15																	62990999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1520A>G	15.37:g.62990999A>G	ENSP00000453508:p.His507Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.H507R	ENST00000561311.1	37	c.1520	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394481	0.25205	.	.	ENSG00000171914	ENST00000306829	T	0.64803	-0.12	5.02	5.02	0.67125	Talin, central (3);	0.145768	0.64402	D	0.000005	T	0.37919	0.1021	N	0.05078	-0.115	0.58432	D	0.999998	B	0.14438	0.01	B	0.21360	0.034	T	0.35226	-0.9797	10	0.02654	T	1	-19.2094	15.1981	0.73112	1.0:0.0:0.0:0.0	.	507	Q9Y4G6	TLN2_HUMAN	R	507	ENSP00000303476:H507R	ENSP00000303476:H507R	H	+	2	0	TLN2	60778291	1.000000	0.71417	0.959000	0.39883	0.751000	0.42716	9.087000	0.94110	2.233000	0.73108	0.533000	0.62120	CAC	TLN2	-	pfam_Talin_cent,superfamily_Talin_cent	ENSG00000171914		0.562	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	42	0.00	0	A			62990999	62990999	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	38	53.09	43	SNP	0.999	G
TLN2	83660	genome.wustl.edu	37	15	63047807	63047807	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:63047807C>T	ENST00000561311.1	+	36	4783	c.4553C>T	c.(4552-4554)aCg>aTg	p.T1518M	TLN2_ENST00000306829.6_Missense_Mutation_p.T1518M|TLN2_ENST00000472902.1_5'Flank			Q9Y4G6	TLN2_HUMAN	talin 2	1518					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCATCCAAGACGGCCAACCCA	0.572																																						dbGAP											0													96.0	73.0	81.0					15																	63047807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4553C>T	15.37:g.63047807C>T	ENSP00000453508:p.Thr1518Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.T1518M	ENST00000561311.1	37	c.4553	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.272481	0.95429	.	.	ENSG00000171914	ENST00000306829	T	0.71698	-0.59	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.86447	0.5935	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85614	0.1260	10	0.52906	T	0.07	-19.0694	20.7342	0.99715	0.0:1.0:0.0:0.0	.	1518	Q9Y4G6	TLN2_HUMAN	M	1518	ENSP00000303476:T1518M	ENSP00000303476:T1518M	T	+	2	0	TLN2	60835099	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	7.647000	0.83462	2.906000	0.99361	0.655000	0.94253	ACG	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	51	0.00	0	C			63047807	63047807	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	18	64.71	33	SNP	1.000	T
TLR8	51311	genome.wustl.edu	37	X	12937583	12937583	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:12937583T>G	ENST00000218032.6	+	2	511	c.424T>G	c.(424-426)Tct>Gct	p.S142A	TLR8_ENST00000311912.5_Missense_Mutation_p.S160A	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	142					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CCAAATACCCTCTGGTTTGCC	0.363																																						dbGAP											0													72.0	74.0	73.0					X																	12937583		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.424T>G	X.37:g.12937583T>G	ENSP00000218032:p.Ser142Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.S142A	ENST00000218032.6	37	c.424	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.530327	0.00145	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00995	5.46;5.46	5.09	-7.85	0.01192	.	1.086000	0.07258	N	0.867028	T	0.00384	0.0012	N	0.04805	-0.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48490	-0.9031	10	0.02654	T	1	.	0.0816	0.00032	0.3067:0.1898:0.1773:0.3262	.	142;160	Q9NR97;D1CS70	TLR8_HUMAN;.	A	142;160	ENSP00000218032:S142A;ENSP00000312082:S160A	ENSP00000218032:S142A	S	+	1	0	TLR8	12847504	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-3.777000	0.00369	-1.383000	0.02106	-1.388000	0.01159	TCT	TLR8	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000101916		0.363	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	64	0.00	0	T	NM_016610		12937583	12937583	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	missense	57	25.97	20	SNP	0.000	G
TMCO1	54499	genome.wustl.edu	37	1	165721405	165721405	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:165721405A>G	ENST00000392129.6	-	5	407	c.257T>C	c.(256-258)gTt>gCt	p.V86A	TMCO1_ENST00000580248.1_Splice_Site_p.V2A|TMCO1_ENST00000464650.1_Splice_Site_p.V2A|TMCO1_ENST00000367881.5_Splice_Site_p.V137A	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	86						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TTTCATTCGAACCTGTAATGA	0.299																																						dbGAP											0													92.0	83.0	86.0					1																	165721405		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.256-1T>C	1.37:g.165721405A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	pfam_DUF106_TM	p.V137A	ENST00000392129.6	37	c.410		1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699286	0.48307	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	M	0.80183	2.485	0.47276	D	0.999375	B;B	0.25048	0.117;0.117	B;B	0.31016	0.123;0.096	T	0.54642	-0.8263	8	0.15952	T	0.53	.	14.2189	0.65812	1.0:0.0:0.0:0.0	.	74;86	B7Z591;Q9UM00	.;TMCO1_HUMAN	A	86;67	.	ENSP00000356856:V86A	V	-	2	0	TMCO1	163988029	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	8.671000	0.91174	2.240000	0.73641	0.533000	0.62120	GTT	TMCO1	-	pfam_DUF106_TM	ENSG00000143183		0.299	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	TMCO1	HGNC	protein_coding	OTTHUMT00000467850.1	63	0.00	0	A	NM_019026	Missense_Mutation	165721405	165721405	-1	no_errors	ENST00000367881	ensembl	human	known	69_37n	missense	106	13.82	17	SNP	1.000	G
TMEM117	84216	genome.wustl.edu	37	12	44782339	44782339	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:44782339G>A	ENST00000266534.3	+	8	1556	c.1429G>A	c.(1429-1431)Gtc>Atc	p.V477I	TMEM117_ENST00000536799.1_Missense_Mutation_p.V373I|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	477						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAATGAGATCGTCTACAAGTC	0.453																																						dbGAP											0													168.0	161.0	163.0					12																	44782339		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1429G>A	12.37:g.44782339G>A	ENSP00000266534:p.Val477Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V477I	ENST00000266534.3	37	c.1429	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170015	0.57584	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.48522	0.81	5.73	3.9	0.45041	.	0.166019	0.41938	D	0.000790	T	0.37812	0.1017	L	0.44542	1.39	0.29239	N	0.872729	B;B	0.23490	0.086;0.009	B;B	0.15052	0.012;0.003	T	0.39603	-0.9606	10	0.56958	D	0.05	-20.6972	9.9451	0.41604	0.2096:0.0:0.7904:0.0	.	373;477	F5H3Q2;Q9H0C3	.;TM117_HUMAN	I	477;373;225	ENSP00000266534:V477I	ENSP00000266534:V477I	V	+	1	0	TMEM117	43068606	0.949000	0.32298	0.996000	0.52242	0.987000	0.75469	1.523000	0.35932	1.419000	0.47118	0.650000	0.86243	GTC	TMEM117	-	NULL	ENSG00000139173		0.453	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	73	0.00	0	G	NM_032256		44782339	44782339	+1	no_errors	ENST00000266534	ensembl	human	known	69_37n	missense	71	34.86	38	SNP	0.911	A
TMEM169	92691	genome.wustl.edu	37	2	216964712	216964712	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:216964712A>G	ENST00000295658.4	+	3	548	c.341A>G	c.(340-342)aAg>aGg	p.K114R	TMEM169_ENST00000437356.2_Missense_Mutation_p.K114R|TMEM169_ENST00000406027.2_Missense_Mutation_p.K114R|TMEM169_ENST00000454545.1_Missense_Mutation_p.K114R	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	114						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAAGAAAAAGGGTCAGATG	0.502																																						dbGAP											0													144.0	129.0	134.0					2																	216964712		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.341A>G	2.37:g.216964712A>G	ENSP00000295658:p.Lys114Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8W6	Missense_Mutation	SNP	NULL	p.K114R	ENST00000295658.4	37	c.341	CCDS2401.1	2	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640846	0.87859	.	.	ENSG00000163449	ENST00000433112;ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	L	0.61387	1.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74919	-0.3500	9	0.39692	T	0.17	-26.5372	13.9123	0.63876	1.0:0.0:0.0:0.0	.	114	Q96HH4	TM169_HUMAN	R	114	.	ENSP00000295658:K114R	K	+	2	0	TMEM169	216672957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.237000	0.78164	2.062000	0.61559	0.533000	0.62120	AAG	TMEM169	-	NULL	ENSG00000163449		0.502	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	HGNC	protein_coding	OTTHUMT00000256666.2	56	0.00	0	A	NM_138390		216964712	216964712	+1	no_errors	ENST00000295658	ensembl	human	known	69_37n	missense	93	15.45	17	SNP	1.000	G
TMEM19	55266	genome.wustl.edu	37	12	72094702	72094702	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:72094702T>C	ENST00000266673.5	+	6	1532	c.938T>C	c.(937-939)gTg>gCg	p.V313A		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	313						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		AACAACGCAGTGAATCTGTTT	0.468																																						dbGAP											0													318.0	274.0	289.0					12																	72094702		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.938T>C	12.37:g.72094702T>C	ENSP00000266673:p.Val313Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	pfam_DUF92_TMEM19	p.V313A	ENST00000266673.5	37	c.938	CCDS9002.1	12	.	.	.	.	.	.	.	.	.	.	T	31	5.060718	0.93846	.	.	ENSG00000139291	ENST00000266673	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	H	0.96301	3.8	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.91236	0.5018	9	0.87932	D	0	-18.1284	16.3839	0.83495	0.0:0.0:0.0:1.0	.	313	Q96HH6	TMM19_HUMAN	A	313	.	ENSP00000266673:V313A	V	+	2	0	TMEM19	70380969	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.015000	0.88690	2.258000	0.74832	0.533000	0.62120	GTG	TMEM19	-	pfam_DUF92_TMEM19	ENSG00000139291		0.468	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM19	HGNC	protein_coding	OTTHUMT00000404801.1	138	0.00	0	T	NM_018279		72094702	72094702	+1	no_errors	ENST00000266673	ensembl	human	known	69_37n	missense	104	38.46	65	SNP	1.000	C
TMEM87A	25963	genome.wustl.edu	37	15	42536296	42536296	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:42536296A>G	ENST00000389834.4	-	7	838	c.574T>C	c.(574-576)Tcc>Ccc	p.S192P	TMEM87A_ENST00000448392.1_Missense_Mutation_p.S131P	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	192						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TCCTTTGAGGATGAAATGCCA	0.323																																						dbGAP											0													80.0	79.0	79.0					15																	42536296		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.574T>C	15.37:g.42536296A>G	ENSP00000374484:p.Ser192Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.S192P	ENST00000389834.4	37	c.574	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	A	12.88	2.070513	0.36566	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.02	3.89	0.44902	.	0.600408	0.17425	N	0.174681	T	0.20861	0.0502	N	0.14661	0.345	0.30010	N	0.815274	B;B	0.12630	0.006;0.0	B;B	0.10450	0.005;0.002	T	0.10451	-1.0629	9	0.36615	T	0.2	-1.6617	1.1348	0.01752	0.5304:0.1557:0.1646:0.1492	.	192;131	Q8NBN3;Q8NBN3-3	TM87A_HUMAN;.	P	192;131;168	.	ENSP00000374484:S192P	S	-	1	0	TMEM87A	40323588	0.935000	0.31712	0.998000	0.56505	0.989000	0.77384	0.342000	0.19926	0.936000	0.37367	0.528000	0.53228	TCC	TMEM87A	-	NULL	ENSG00000103978		0.323	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	116	0.00	0	A	NM_015497		42536296	42536296	-1	no_errors	ENST00000389834	ensembl	human	known	69_37n	missense	73	46.32	63	SNP	0.977	G
TMEM8C	389827	genome.wustl.edu	37	9	136379898	136379898	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:136379898A>T	ENST00000339996.3	-	5	627	c.526T>A	c.(526-528)Tac>Aac	p.Y176N	TMEM8C_ENST00000413714.1_5'Flank	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	176					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ACATAAGTGTAGTCCCAGTCC	0.652																																						dbGAP											0													91.0	87.0	88.0					9																	136379898		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.526T>A	9.37:g.136379898A>T	ENSP00000419712:p.Tyr176Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3522	p.Y176N	ENST00000339996.3	37	c.526	CCDS35170.1	9	.	.	.	.	.	.	.	.	.	.	a	15.26	2.779478	0.49891	.	.	ENSG00000187616	ENST00000339996	T	0.54279	0.58	3.78	1.35	0.21983	.	0.251324	0.33477	N	0.004876	T	0.67268	0.2875	M	0.79123	2.44	0.52099	D	0.99994	D	0.89917	1.0	D	0.91635	0.999	T	0.64850	-0.6310	10	0.87932	D	0	-20.8683	7.0754	0.25201	0.7973:0.0:0.2027:0.0	.	176	A6NI61	TMM8C_HUMAN	N	176	ENSP00000419712:Y176N	ENSP00000419712:Y176N	Y	-	1	0	TMEM8C	135369719	1.000000	0.71417	0.904000	0.35570	0.636000	0.38137	5.681000	0.68175	0.051000	0.15978	0.172000	0.16884	TAC	TMEM8C	-	pfam_DUF3522	ENSG00000187616		0.652	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8C	HGNC	protein_coding	OTTHUMT00000356200.2	57	0.00	0	A	NM_001080483		136379898	136379898	-1	no_errors	ENST00000339996	ensembl	human	known	69_37n	missense	53	26.03	19	SNP	0.997	T
TNFAIP2	7127	genome.wustl.edu	37	14	103597436	103597436	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:103597436C>A	ENST00000560869.1	+	7	1886	c.1247C>A	c.(1246-1248)aCg>aAg	p.T416K	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.T85K|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.T416K			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	416					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AAGCAGCTGACGAATTACAGG	0.557																																						dbGAP											0													107.0	94.0	98.0					14																	103597436		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1247C>A	14.37:g.103597436C>A	ENSP00000452634:p.Thr416Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VI0	Missense_Mutation	SNP	pfam_Sec6	p.T416K	ENST00000560869.1	37	c.1247	CCDS9979.1	14	.	.	.	.	.	.	.	.	.	.	C	0	-2.704872	0.00096	.	.	ENSG00000185215	ENST00000333007;ENST00000451723	T;T	0.05855	3.38;3.38	4.07	-1.5	0.08691	.	0.679362	0.14342	N	0.325644	T	0.02494	0.0076	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46373	-0.9196	10	0.02654	T	1	0.6273	5.4027	0.16305	0.2922:0.4451:0.2627:0.0	.	193;416	A1A584;Q03169	.;TNAP2_HUMAN	K	416;85	ENSP00000332326:T416K;ENSP00000393256:T85K	ENSP00000332326:T416K	T	+	2	0	TNFAIP2	102667189	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-0.216000	0.09266	-0.170000	0.10816	-2.231000	0.00291	ACG	TNFAIP2	-	pfam_Sec6	ENSG00000185215		0.557	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP2	HGNC	protein_coding	OTTHUMT00000415674.1	63	0.00	0	C	NM_006291		103597436	103597436	+1	no_errors	ENST00000333007	ensembl	human	known	69_37n	missense	80	21.57	22	SNP	0.000	A
TNFRSF17	608	genome.wustl.edu	37	16	12061488	12061488	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:12061488T>C	ENST00000053243.1	+	3	557	c.339T>C	c.(337-339)atT>atC	p.I113I	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Silent_p.I64I	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	113					cell proliferation (GO:0008283)|immune system process (GO:0002376)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			large_intestine(3)|lung(3)	6						GTGATGAAATTATTCTTCCGA	0.473			T	IL2	intestinal T-cell lymphoma																																	dbGAP		Dom	yes		16	16p13.1	608	"""tumor necrosis factor receptor superfamily, member 17"""		L	0													118.0	104.0	109.0					16																	12061488		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			Z29574	CCDS10552.1	16p13.1	2013-05-22			ENSG00000048462	ENSG00000048462		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11913	protein-coding gene	gene with protein product		109545		BCMA		1396583, 8165126	Standard	NM_001192		Approved	BCM, CD269, TNFRSF13A	uc002dbv.3	Q02223	OTTHUMG00000129826	ENST00000053243.1:c.339T>C	16.37:g.12061488T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TQ40	Silent	SNP	pfam_BCMA_Tall-1-bd,pirsf_TNFR_17,prints_TNFR_17,prints_TNFR_13C	p.I113	ENST00000053243.1	37	c.339	CCDS10552.1	16																																																																																			TNFRSF17	-	pirsf_TNFR_17,prints_TNFR_17	ENSG00000048462		0.473	TNFRSF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF17	HGNC	protein_coding	OTTHUMT00000252062.1	34	0.00	0	T			12061488	12061488	+1	no_errors	ENST00000053243	ensembl	human	known	69_37n	silent	38	40.62	26	SNP	0.000	C
TNIK	23043	genome.wustl.edu	37	3	170895125	170895125	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:170895125delT	ENST00000436636.2	-	8	1028	c.684delA	c.(682-684)gaafs	p.E228fs	TNIK_ENST00000538048.1_Frame_Shift_Del_p.E228fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.E228fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.E228fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.E228fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.E228fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.E228fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.E228fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.E228fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.E228fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGGAGCACCTTCTGCCATTT	0.488																																						dbGAP											0													57.0	59.0	58.0					3																	170895125		1916	4122	6038	-	-	-	SO:0001589	frameshift_variant	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.684delA	3.37:g.170895125delT	ENSP00000399511:p.Glu228fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Citron,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.G229fs	ENST00000436636.2	37	c.684	CCDS46956.1	3																																																																																			TNIK	-	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	ENSG00000154310		0.488	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	67	0.00	0	T	XM_039796		170895125	170895125	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	frame_shift_del	108	20.59	28	DEL	1.000	-
TNRC6B	23112	genome.wustl.edu	37	22	40661353	40661353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:40661353delA	ENST00000454349.2	+	5	1330	c.1119delA	c.(1117-1119)ccafs	p.P373fs	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Frame_Shift_Del_p.P373fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	373	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTGATGGACCAAAAAATGGAA	0.453																																						dbGAP											0													77.0	77.0	77.0					22																	40661353		1947	4142	6089	-	-	-	SO:0001589	frameshift_variant	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1119delA	22.37:g.40661353delA	ENSP00000401946:p.Pro373fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Del	DEL	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.N375fs	ENST00000454349.2	37	c.1119	CCDS54533.1	22																																																																																			TNRC6B	-	NULL	ENSG00000100354		0.453	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		47	0.00	0	A			40661353	40661353	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	frame_shift_del	26	29.73	11	DEL	1.000	-
TNRC6C	57690	genome.wustl.edu	37	17	76067210	76067210	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:76067210C>T	ENST00000588061.1	+	8	3550	c.2823C>T	c.(2821-2823)agC>agT	p.S941S	TNRC6C_ENST00000541771.1_Silent_p.S941S|TNRC6C_ENST00000588847.1_Silent_p.S938S|TNRC6C_ENST00000301624.4_Silent_p.S941S|TNRC6C_ENST00000544502.1_Silent_p.S938S|TNRC6C_ENST00000335749.4_Silent_p.S938S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	941	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGATCATGAGCCGGCTGATCA	0.488																																						dbGAP											0													72.0	72.0	72.0					17																	76067210		1961	4152	6113	-	-	-	SO:0001819	synonymous_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2823C>T	17.37:g.76067210C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S938	ENST00000588061.1	37	c.2814	CCDS45798.1	17																																																																																			TNRC6C	-	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000078687		0.488	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	81	0.00	0	C	NM_018996		76067210	76067210	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	silent	139	25.67	48	SNP	1.000	T
TNXB	7148	genome.wustl.edu	37	6	32010078	32010078	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:32010078T>C	ENST00000375244.3	-	41	12473	c.12272A>G	c.(12271-12273)cAt>cGt	p.H4091R	TNXB_ENST00000375247.2_Missense_Mutation_p.H4089R|TNXB_ENST00000451343.1_Missense_Mutation_p.H520R			P22105	TENX_HUMAN	tenascin XB	4136	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCAAAACCATGGGCATAGTC	0.617																																						dbGAP											0													20.0	23.0	22.0					6																	32010078		2177	4263	6440	-	-	-	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.12272A>G	6.37:g.32010078T>C	ENSP00000364393:p.His4091Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	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_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.H4089R	ENST00000375244.3	37	c.12266		6	.	.	.	.	.	.	.	.	.	.	t	12.27	1.886158	0.33348	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.75821	-0.97;-0.97;-0.97	4.66	0.776	0.18532	.	0.287527	0.25241	N	0.032086	T	0.38295	0.1035	N	0.04260	-0.245	0.09310	N	1	D	0.62365	0.991	P	0.61477	0.889	T	0.42413	-0.9453	10	0.15499	T	0.54	.	1.3881	0.02244	0.1444:0.1824:0.1488:0.5244	.	4089	P22105-3	.	R	4091;520;4089	ENSP00000364393:H4091R;ENSP00000407685:H520R;ENSP00000364396:H4089R	ENSP00000364393:H4091R	H	-	2	0	TNXB	32118057	0.000000	0.05858	0.647000	0.29507	0.986000	0.74619	-1.351000	0.02622	0.287000	0.22375	-0.347000	0.07816	CAT	TNXB	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000168477		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	46	0.00	0	T	NM_019105		32010078	32010078	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.000	C
TNXB	7148	genome.wustl.edu	37	6	32064693	32064693	+	Missense_Mutation	SNP	G	G	A	rs534795841		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:32064693G>A	ENST00000479795.1	-	3	1077	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	TNXB_ENST00000375247.2_Missense_Mutation_p.R313W|TNXB_ENST00000375244.3_Missense_Mutation_p.R313W			P22105	TENX_HUMAN	tenascin XB	313	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCAGCCCCGAGGGCAGCTC	0.697																																						dbGAP											0													21.0	26.0	25.0					6																	32064693		2161	4247	6408	-	-	-	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.937C>T	6.37:g.32064693G>A	ENSP00000418248:p.Arg313Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	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_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R313W	ENST00000479795.1	37	c.937		6	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130131	0.56721	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.03272	3.99;3.99;3.99	4.37	2.47	0.30058	.	0.161679	0.29342	N	0.012440	T	0.03915	0.0110	L	0.39633	1.23	0.25740	N	0.985171	D	0.89917	1.0	D	0.85130	0.997	T	0.32188	-0.9916	10	0.72032	D	0.01	.	7.0816	0.25234	0.0:0.168:0.4872:0.3448	.	313	P22105-3	.	W	313	ENSP00000364393:R313W;ENSP00000364396:R313W;ENSP00000418248:R313W	ENSP00000364393:R313W	R	-	1	2	TNXB	32172671	0.000000	0.05858	0.958000	0.39756	0.951000	0.60555	-0.044000	0.12023	0.241000	0.21283	0.591000	0.81541	CGG	TNXB	-	pfam_EGF_extracell,smart_EGF-like	ENSG00000168477		0.697	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	55	0.00	0	G	NM_019105		32064693	32064693	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	39	43.48	30	SNP	0.771	A
TOMM40	10452	genome.wustl.edu	37	19	45404306	45404306	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:45404306T>C	ENST00000426677.2	+	7	968	c.788T>C	c.(787-789)gTa>gCa	p.V263A	TOMM40_ENST00000405636.2_Missense_Mutation_p.V263A|TOMM40_ENST00000592434.1_Missense_Mutation_p.V263A|TOMM40_ENST00000252487.5_Missense_Mutation_p.V263A	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	263					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		TTGGCAACGGTAACGTTGGGC	0.612																																						dbGAP											0													78.0	72.0	74.0					19																	45404306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.788T>C	19.37:g.45404306T>C	ENSP00000410339:p.Val263Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	pfam_Porin_Euk	p.V263A	ENST00000426677.2	37	c.788	CCDS12646.1	19	.	.	.	.	.	.	.	.	.	.	t	4.743	0.138190	0.09083	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.39229	1.09;1.09;1.09	4.4	4.4	0.53042	.	0.260709	0.31167	N	0.008138	T	0.16428	0.0395	N	0.02876	-0.465	0.09310	N	0.999999	B;B	0.14012	0.007;0.009	B;B	0.12156	0.004;0.007	T	0.17107	-1.0380	10	0.02654	T	1	-18.7571	11.6218	0.51121	0.0:0.0:0.0:1.0	.	263;263	O96008-2;O96008	.;TOM40_HUMAN	A	263	ENSP00000410339:V263A;ENSP00000385184:V263A;ENSP00000252487:V263A	ENSP00000252487:V263A	V	+	2	0	TOMM40	50096146	0.991000	0.36638	0.594000	0.28785	0.898000	0.52572	7.445000	0.80570	1.853000	0.53794	0.375000	0.23000	GTA	TOMM40	-	pfam_Porin_Euk	ENSG00000130204		0.612	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOMM40	HGNC	protein_coding	OTTHUMT00000453241.1	90	0.00	0	T			45404306	45404306	+1	no_errors	ENST00000252487	ensembl	human	known	69_37n	missense	46	41.98	34	SNP	0.152	C
TP53BP1	7158	genome.wustl.edu	37	15	43739574	43739574	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:43739574A>G	ENST00000263801.3	-	13	3063	c.2811T>C	c.(2809-2811)agT>agC	p.S937S	TP53BP1_ENST00000382044.4_Silent_p.S942S|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000450115.2_Silent_p.S942S|TP53BP1_ENST00000382039.3_Silent_p.S942S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	937					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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 transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAATAGGAGTACTGTGTCTCT	0.393								Other conserved DNA damage response genes																														dbGAP											0													104.0	103.0	104.0					15																	43739574		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2811T>C	15.37:g.43739574A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	NULL	p.Y184H	ENST00000263801.3	37	c.550	CCDS10096.1	15																																																																																			TP53BP1	-	NULL	ENSG00000067369		0.393	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	113	0.00	0	A			43739574	43739574	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000411772	ensembl	human	known	69_37n	missense	125	20.89	33	SNP	1.000	G
TPR	7175	genome.wustl.edu	37	1	186314830	186314830	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:186314830T>C	ENST00000367478.4	-	24	3393		c.e24-2			NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCAGATAACTAAGCAGAAAG	0.328			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													76.0	67.0	70.0					1																	186314830		1827	4071	5898	-	-	-	SO:0001630	splice_region_variant	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3097-2A>G	1.37:g.186314830T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Splice_Site	SNP	-	e24-2	ENST00000367478.4	37	c.3097-2	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948880	0.73787	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5768	0.76397	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPR	184581453	1.000000	0.71417	0.986000	0.45419	0.836000	0.47400	7.180000	0.77674	2.126000	0.65437	0.528000	0.53228	.	TPR	-	-	ENSG00000047410		0.328	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	75	0.00	0	T	NM_003292	Intron	186314830	186314830	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	splice_site	101	24.06	32	SNP	0.998	C
TRDN	10345	genome.wustl.edu	37	6	123759209	123759209	+	Splice_Site	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:123759209delT	ENST00000398178.3	-	12	1071	c.1050delA	c.(1048-1050)aaa>aa	p.K350fs	RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Splice_Site_p.K350fs|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587049.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	350					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTGCAATACCTTTTTTTTCCA	0.338																																						dbGAP											0													127.0	124.0	125.0					6																	123759209		1878	4104	5982	-	-	-	SO:0001630	splice_region_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1051+1A>-	6.37:g.123759209delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Del	DEL	pfam_Asp-B-hydro/Triadin_dom	p.E351fs	ENST00000398178.3	37	c.1050	CCDS55053.1	6																																																																																			TRDN	-	NULL	ENSG00000186439		0.338	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		118	0.00	0	T		Frame_Shift_Del	123759209	123759209	-1	no_errors	ENST00000398178	ensembl	human	known	69_37n	frame_shift_del	180	15.42	33	DEL	1.000	-
TRIM16	10626	genome.wustl.edu	37	17	15535965	15535965	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:15535965A>G	ENST00000578237.1	-	9	1728	c.873T>C	c.(871-873)acT>acC	p.T291T	RP11-385D13.1_ENST00000455584.2_Silent_p.T291T|TRIM16_ENST00000577886.1_Silent_p.T75T|TRIM16_ENST00000416464.2_Silent_p.T161T|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000336708.7_Silent_p.T291T			O95361	TRI16_HUMAN	tripartite motif containing 16	291					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGATGTCTTCAGTGTTCTTAA	0.443																																						dbGAP											0													89.0	80.0	83.0					17																	15535965		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.873T>C	17.37:g.15535965A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.T291	ENST00000578237.1	37	c.873	CCDS11171.1	17	.	.	.	.	.	.	.	.	.	.	a	0.017	-1.487313	0.01018	.	.	ENSG00000251537	ENST00000455584	.	.	.	4.8	-9.61	0.00550	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.32676	N	0.516099	.	.	.	.	.	.	T	0.43782	-0.9370	4	.	.	.	.	4.0691	0.09874	0.2949:0.4314:0.0735:0.2002	.	.	.	.	P	306	.	.	L	-	2	0	RP11-385D13.1	15476690	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-8.583000	0.00019	-5.751000	0.00010	-1.642000	0.00770	CTG	TRIM16	-	NULL	ENSG00000221926		0.443	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	100	0.00	0	A	NM_006470		15535965	15535965	-1	no_errors	ENST00000336708	ensembl	human	known	69_37n	silent	78	39.06	50	SNP	0.000	G
TRIM24	8805	genome.wustl.edu	37	7	138210015	138210015	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:138210015A>T	ENST00000343526.4	+	5	1009	c.794A>T	c.(793-795)aAt>aTt	p.N265I	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.N265I			O15164	TIF1A_HUMAN	tripartite motif containing 24	265					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GCTTTTCAGAATCAGAAAGTG	0.269																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											0													32.0	32.0	32.0					7																	138210015		2185	4249	6434	-	-	-	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.794A>T	7.37:g.138210015A>T	ENSP00000340507:p.Asn265Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.N265I	ENST00000343526.4	37	c.794	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870711	0.72065	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.56611	0.45;0.45	4.62	4.62	0.57501	.	0.049597	0.85682	D	0.000000	T	0.50786	0.1636	L	0.49778	1.585	0.47374	D	0.999407	B;P	0.36378	0.001;0.55	B;B	0.43251	0.007;0.413	T	0.54497	-0.8285	10	0.56958	D	0.05	-9.5494	8.8048	0.34932	0.9138:0.0:0.0862:0.0	.	265;265	O15164;O15164-2	TIF1A_HUMAN;.	I	265;265;176;265;223	ENSP00000340507:N265I;ENSP00000390829:N265I	ENSP00000340507:N265I	N	+	2	0	TRIM24	137860555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.779000	0.62375	2.054000	0.61138	0.533000	0.62120	AAT	TRIM24	-	NULL	ENSG00000122779		0.269	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	40	0.00	0	A	NM_015905		138210015	138210015	+1	no_errors	ENST00000343526	ensembl	human	known	69_37n	missense	44	35.29	24	SNP	1.000	T
TRIP10	9322	genome.wustl.edu	37	19	6750563	6750563	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:6750563A>G	ENST00000313244.9	+	14	1611	c.1576A>G	c.(1576-1578)Att>Gtt	p.I526V	TRIP10_ENST00000600428.1_Missense_Mutation_p.I362V|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.I470V|TRIP10_ENST00000313285.8_Missense_Mutation_p.I470V			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	526	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGACACCCCCATTTACACGGA	0.552																																						dbGAP											0													107.0	93.0	98.0					19																	6750563		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1576A>G	19.37:g.6750563A>G	ENSP00000320117:p.Ile526Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.I526V	ENST00000313244.9	37	c.1576		19	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331579	0.24167	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.75938	-0.98;-0.98	4.67	4.67	0.58626	Src homology-3 domain (1);	0.346012	0.28296	N	0.015866	T	0.69269	0.3092	L	0.32530	0.975	0.46901	D	0.999242	P;P;P	0.43885	0.56;0.734;0.82	B;P;P	0.50825	0.341;0.651;0.469	T	0.63677	-0.6583	10	0.15066	T	0.55	-17.5153	10.4088	0.44280	1.0:0.0:0.0:0.0	.	470;526;470	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	V	470;526;470	ENSP00000320493:I470V;ENSP00000320117:I526V	ENSP00000320117:I526V	I	+	1	0	TRIP10	6701563	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.386000	0.59620	1.951000	0.56629	0.260000	0.18958	ATT	TRIP10	-	superfamily_SH3_domain	ENSG00000125733		0.552	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	77	0.00	0	A			6750563	6750563	+1	no_errors	ENST00000313244	ensembl	human	known	69_37n	missense	73	25.51	25	SNP	0.999	G
TRMT5	57570	genome.wustl.edu	37	14	61442326	61442326	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:61442326A>G	ENST00000261249.6	-	4	1695	c.1311T>C	c.(1309-1311)gcT>gcC	p.A437A	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCCTAACACAGCTCCAGCCC	0.493																																						dbGAP											0													110.0	102.0	105.0					14																	61442326		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1311T>C	14.37:g.61442326A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.A437	ENST00000261249.6	37	c.1311	CCDS32092.1	14																																																																																			TRMT5	-	NULL	ENSG00000126814		0.493	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT5	HGNC	protein_coding	OTTHUMT00000412831.1	106	0.00	0	A	NM_02081		61442326	61442326	-1	no_errors	ENST00000261249	ensembl	human	known	69_37n	silent	78	43.48	60	SNP	0.034	G
TRNT1	51095	genome.wustl.edu	37	3	3189148	3189148	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:3189148G>A	ENST00000251607.6	+	7	919	c.817G>A	c.(817-819)Gca>Aca	p.A273T	TRNT1_ENST00000280591.6_Missense_Mutation_p.A253T	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	273					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ACCTGCTAATGCAAGTTTAGA	0.363																																						dbGAP											0													68.0	71.0	70.0					3																	3189148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.817G>A	3.37:g.3189148G>A	ENSP00000251607:p.Ala273Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	pfam_PolA_pol_head_dom	p.A273T	ENST00000251607.6	37	c.817	CCDS2561.2	3	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960308	0.53400	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.48836	0.8;0.81	5.64	3.81	0.43845	.	0.218570	0.46145	D	0.000319	T	0.30166	0.0756	N	0.14661	0.345	0.80722	D	1	B;B	0.15719	0.014;0.003	B;B	0.16722	0.016;0.003	T	0.04203	-1.0969	10	0.14656	T	0.56	-8.3727	14.5323	0.67934	0.0:0.0:0.7325:0.2675	.	253;273	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	T	273;253	ENSP00000251607:A273T;ENSP00000280591:A253T	ENSP00000251607:A273T	A	+	1	0	TRNT1	3164148	1.000000	0.71417	0.479000	0.27329	0.986000	0.74619	5.161000	0.64935	0.701000	0.31803	0.655000	0.94253	GCA	TRNT1	-	NULL	ENSG00000072756		0.363	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNT1	HGNC	protein_coding	OTTHUMT00000337616.1	30	0.00	0	G			3189148	3189148	+1	no_errors	ENST00000251607	ensembl	human	known	69_37n	missense	48	27.27	18	SNP	1.000	A
TRPA1	8989	genome.wustl.edu	37	8	72967993	72967993	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:72967993T>C	ENST00000262209.4	-	11	1499	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	431					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCCAAGTAGGTTATTTACAGA	0.428																																						dbGAP											0													35.0	35.0	35.0					8																	72967993		2200	4277	6477	-	-	-	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1292A>G	8.37:g.72967993T>C	ENSP00000262209:p.Asn431Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N431S	ENST00000262209.4	37	c.1292	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	T	11.59	1.684380	0.29872	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.63580	-0.05;-0.05	5.1	5.1	0.69264	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	N	0.12746	0.255	0.52099	D	0.999949	P	0.39576	0.679	B	0.39935	0.314	T	0.35101	-0.9802	10	0.22109	T	0.4	-25.723	10.419	0.44340	0.0:0.0774:0.0:0.9226	.	431	O75762	TRPA1_HUMAN	S	283;431	ENSP00000428151:N283S;ENSP00000262209:N431S	ENSP00000262209:N431S	N	-	2	0	TRPA1	73130547	1.000000	0.71417	0.991000	0.47740	0.473000	0.32948	4.078000	0.57606	2.038000	0.60285	0.528000	0.53228	AAC	TRPA1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.428	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	84	0.00	0	T	NM_007332		72967993	72967993	-1	no_errors	ENST00000262209	ensembl	human	known	69_37n	missense	82	31.67	38	SNP	0.999	C
TRPC1	7220	genome.wustl.edu	37	3	142511768	142511768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:142511768delT	ENST00000476941.1	+	9	2026	c.1540delT	c.(1540-1542)tttfs	p.F515fs	TRPC1_ENST00000273482.6_Frame_Shift_Del_p.F481fs	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	515					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTTCGTCTCTTTTTTATGTA	0.343																																						dbGAP											0													136.0	122.0	127.0					3																	142511768		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1540delT	3.37:g.142511768delT	ENSP00000419313:p.Phe515fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Frame_Shift_Del	DEL	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F515fs	ENST00000476941.1	37	c.1540	CCDS58856.1	3																																																																																			TRPC1	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000144935		0.343	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	133	0.00	0	T	NM_003304		142511768	142511768	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	frame_shift_del	154	27.10	58	DEL	1.000	-
TRPM6	140803	genome.wustl.edu	37	9	77457135	77457135	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr9:77457135C>A	ENST00000360774.1	-	4	514	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	TRPM6_ENST00000376864.4_Missense_Mutation_p.D93Y|TRPM6_ENST00000449912.2_Missense_Mutation_p.D88Y|TRPM6_ENST00000361255.3_Missense_Mutation_p.D88Y|TRPM6_ENST00000359047.2_Missense_Mutation_p.D93Y|TRPM6_ENST00000376872.3_Missense_Mutation_p.D93Y|TRPM6_ENST00000376871.3_Missense_Mutation_p.D93Y|TRPM6_ENST00000451710.3_Missense_Mutation_p.D93Y	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	93					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D93Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCAAAAGTATCTGTTGGGCTT	0.408																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											198.0	187.0	191.0					9																	77457135		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.277G>T	9.37:g.77457135C>A	ENSP00000354006:p.Asp93Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D93Y	ENST00000360774.1	37	c.277	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933493	0.52866	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.79	5.79	0.91817	.	0.096418	0.64402	D	0.000001	D	0.84183	0.5416	M	0.90977	3.165	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.961;0.995	D;D;D;D;P;D	0.71184	0.91;0.944;0.944;0.972;0.761;0.945	D	0.86946	0.2082	10	0.87932	D	0	.	20.0377	0.97569	0.0:1.0:0.0:0.0	.	93;93;93;93;93;88	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	Y	93;93;93;93;88;88;92;93;93	ENSP00000354006:D93Y;ENSP00000407341:D93Y;ENSP00000366068:D93Y;ENSP00000366067:D93Y;ENSP00000396672:D88Y;ENSP00000354962:D88Y;ENSP00000366060:D93Y;ENSP00000351942:D93Y	ENSP00000351942:D93Y	D	-	1	0	TRPM6	76646955	0.998000	0.40836	0.998000	0.56505	0.054000	0.15201	3.777000	0.55364	2.727000	0.93392	0.643000	0.83706	GAT	TRPM6	-	NULL	ENSG00000119121		0.408	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	192	0.00	0	C	NM_017662		77457135	77457135	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	181	25.51	62	SNP	1.000	A
TSACC	128229	genome.wustl.edu	37	1	156314450	156314450	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:156314450T>C	ENST00000368255.3	+	3	474	c.114T>C	c.(112-114)agT>agC	p.S38S	TSACC_ENST00000470342.1_Silent_p.S38S|TSACC_ENST00000466306.1_Silent_p.S38S|TSACC_ENST00000368254.1_Silent_p.S38S|TSACC_ENST00000481479.1_Silent_p.S38S|TSACC_ENST00000368252.1_Silent_p.S38S|TSACC_ENST00000368251.1_Silent_p.S38S|TSACC_ENST00000368253.2_Silent_p.S38S	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	38						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										TTCAAGCAAGTTCCCCACCAG	0.473																																						dbGAP											0													75.0	79.0	78.0					1																	156314450		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.114T>C	1.37:g.156314450T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVB9	Silent	SNP	NULL	p.S38	ENST00000368255.3	37	c.114	CCDS1141.1	1																																																																																			TSACC	-	NULL	ENSG00000163467		0.473	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSACC	HGNC	protein_coding	OTTHUMT00000060594.1	86	0.00	0	T	NM_144627		156314450	156314450	+1	no_errors	ENST00000368251	ensembl	human	known	69_37n	silent	127	15.33	23	SNP	0.255	C
TSSC2	650368	genome.wustl.edu	37	11	3423867	3423867	+	RNA	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:3423867G>A	ENST00000529482.1	+	0	711									tumor suppressing subtransferable candidate 2 pseudogene																		GACACGGAGCGGTCGGCCTTC	0.657																																						dbGAP											0																																										-	-	-			0					11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3423867G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000529482.1	37	NULL		11																																																																																			TSSC2	-	-	ENSG00000223756		0.657	TSSC2-003	KNOWN	basic	processed_transcript	TSSC2	HGNC	pseudogene	OTTHUMT00000392020.1	49	0.00	0	G			3423867	3423867	+1	no_errors	ENST00000529482	ensembl	human	known	69_37n	rna	28	15.15	5	SNP	0.700	A
TTC38	55020	genome.wustl.edu	37	22	46669876	46669876	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr22:46669876C>A	ENST00000381031.3	+	4	351	c.275C>A	c.(274-276)gCt>gAt	p.A92D	TTC38_ENST00000445282.2_Missense_Mutation_p.A92D	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	92						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CTGGACCTGGCTGTGAAGACA	0.572																																						dbGAP											0													58.0	64.0	62.0					22																	46669876		2090	4234	6324	-	-	-	SO:0001583	missense	0				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.275C>A	22.37:g.46669876C>A	ENSP00000370419:p.Ala92Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV27|Q9NWP8	Missense_Mutation	SNP	NULL	p.A92D	ENST00000381031.3	37	c.275	CCDS43030.1	22	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005806	0.54254	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	D;D;T	0.84146	-1.81;-1.81;-1.39	5.56	3.4	0.38934	.	0.202648	0.51477	N	0.000097	T	0.81527	0.4841	L	0.54323	1.7	0.36009	D	0.837896	B;B	0.23058	0.079;0.063	B;B	0.22753	0.041;0.034	T	0.79317	-0.1853	10	0.37606	T	0.19	-3.4249	13.7604	0.62961	0.2805:0.7195:0.0:0.0	.	92;92	E7ES35;Q5R3I4	.;TTC38_HUMAN	D	92	ENSP00000370419:A92D;ENSP00000393960:A92D;ENSP00000410095:A92D	ENSP00000370419:A92D	A	+	2	0	TTC38	45048540	0.999000	0.42202	0.905000	0.35620	0.794000	0.44872	4.302000	0.59092	0.653000	0.30826	-0.182000	0.12963	GCT	TTC38	-	NULL	ENSG00000075234		0.572	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TTC38	HGNC	protein_coding	OTTHUMT00000318469.1	46	0.00	0	C	NM_017931		46669876	46669876	+1	no_errors	ENST00000445282	ensembl	human	known	69_37n	missense	28	41.18	21	SNP	0.985	A
TTN	7273	genome.wustl.edu	37	2	179433320	179433320	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:179433320T>A	ENST00000591111.1	-	276	72840	c.72616A>T	c.(72616-72618)Acc>Tcc	p.T24206S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16907S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T23279S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16974S|TTN_ENST00000589042.1_Missense_Mutation_p.T25847S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T16782S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24206	Ig-like 121.				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)			AGTGAATCGGTAACATTGATT	0.418																																						dbGAP											0													244.0	223.0	230.0					2																	179433320		1934	4147	6081	-	-	-	SO:0001583	missense	0			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.72616A>T	2.37:g.179433320T>A	ENSP00000465570:p.Thr24206Ser	Somatic		WXS	Illumina GAIIx	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.T23279S	ENST00000591111.1	37	c.69835		2	.	.	.	.	.	.	.	.	.	.	T	10.09	1.256055	0.22965	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	6.03	3.57	0.40892	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48978	0.1530	N	0.13098	0.295	0.29659	N	0.843378	B;B;B;B	0.18461	0.002;0.002;0.002;0.028	B;B;B;B	0.20767	0.004;0.004;0.007;0.031	T	0.48625	-0.9019	9	0.87932	D	0	.	8.5391	0.33382	0.117:0.064:0.0:0.819	.	16782;16907;16974;24206	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23279;16782;16974;16907;16780	ENSP00000343764:T23279S;ENSP00000434586:T16782S;ENSP00000340554:T16974S;ENSP00000352154:T16907S	ENSP00000340554:T16974S	T	-	1	0	TTN	179141566	1.000000	0.71417	0.050000	0.19076	0.926000	0.56050	2.784000	0.47774	0.465000	0.27167	0.533000	0.62120	ACC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	151	0.00	0	T	NM_133378		179433320	179433320	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	149	28.37	59	SNP	0.824	A
TUBE1	51175	genome.wustl.edu	37	6	112397206	112397206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:112397206delT	ENST00000368662.5	-	8	824	c.746delA	c.(745-747)aagfs	p.K249fs	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	249					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	CTTATGCTGCTTTTTTAAAGC	0.393																																						dbGAP											0													140.0	151.0	148.0					6																	112397206		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.746delA	6.37:g.112397206delT	ENSP00000357651:p.Lys249fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8W8|Q8NEG3	Frame_Shift_Del	DEL	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin	p.K249fs	ENST00000368662.5	37	c.746	CCDS5100.1	6																																																																																			TUBE1	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase	ENSG00000074935		0.393	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBE1	HGNC	protein_coding	OTTHUMT00000041867.1	151	0.00	0	T	NM_016262		112397206	112397206	-1	no_errors	ENST00000368662	ensembl	human	known	69_37n	frame_shift_del	150	34.05	79	DEL	0.016	-
TULP3	7289	genome.wustl.edu	37	12	3029956	3029956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:3029956delA	ENST00000448120.2	+	3	172	c.121delA	c.(121-123)aaafs	p.K42fs	TULP3_ENST00000397132.2_Frame_Shift_Del_p.K42fs	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	42	Required for association with the IFT complex A (IFT-A).				anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAGGCAAAGGAAAAAGCGCCT	0.507																																						dbGAP											0													95.0	95.0	95.0					12																	3029956		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.121delA	12.37:g.3029956delA	ENSP00000410051:p.Lys42fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Frame_Shift_Del	DEL	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.K42fs	ENST00000448120.2	37	c.121	CCDS8519.1	12																																																																																			TULP3	-	prints_Tubby_N	ENSG00000078246		0.507	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TULP3	HGNC	protein_coding	OTTHUMT00000398468.1	47	0.00	0	A	NM_003324		3029956	3029956	+1	no_errors	ENST00000228245	ensembl	human	known	69_37n	frame_shift_del	47	29.17	21	DEL	1.000	-
TULP4	56995	genome.wustl.edu	37	6	158915801	158915801	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:158915801A>G	ENST00000367097.3	+	11	3150	c.1793A>G	c.(1792-1794)cAg>cGg	p.Q598R	TULP4_ENST00000367094.2_Missense_Mutation_p.Q598R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	598					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TATCTTGCTCAGGTCACGTCT	0.403																																						dbGAP											0													124.0	111.0	116.0					6																	158915801		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1793A>G	6.37:g.158915801A>G	ENSP00000356064:p.Gln598Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q598R	ENST00000367097.3	37	c.1793	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	A	31	5.075007	0.94000	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	D;D	0.85088	-1.94;-1.94	5.56	5.56	0.83823	Tubby, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	L	0.44542	1.39	0.80722	D	1	D;D	0.64830	0.962;0.994	D;D	0.72982	0.946;0.979	D	0.89438	0.3721	10	0.87932	D	0	-29.8126	15.7219	0.77718	1.0:0.0:0.0:0.0	.	598;598	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	R	598	ENSP00000356064:Q598R;ENSP00000356061:Q598R	ENSP00000356061:Q598R	Q	+	2	0	TULP4	158835789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.654000	0.91092	2.112000	0.64535	0.533000	0.62120	CAG	TULP4	-	superfamily_Tubby_C-like	ENSG00000130338		0.403	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	103	0.95	1	A	NM_020245		158915801	158915801	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	missense	151	32.29	72	SNP	1.000	G
TXLNG	55787	genome.wustl.edu	37	X	16847877	16847877	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:16847877A>G	ENST00000380122.5	+	5	909	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	TXLNG_ENST00000398155.4_Missense_Mutation_p.Y151C	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	283					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						ATCGAACAGTACGCACTGAGG	0.453																																						dbGAP											0													102.0	83.0	90.0					X																	16847877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.848A>G	X.37:g.16847877A>G	ENSP00000369465:p.Tyr283Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	pfam_Taxilin	p.Y283C	ENST00000380122.5	37	c.848	CCDS14178.1	X	.	.	.	.	.	.	.	.	.	.	A	16.73	3.205297	0.58234	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.39056	1.1;1.1	5.36	5.36	0.76844	.	0.130556	0.53938	D	0.000051	T	0.66257	0.2771	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70510	-0.4852	10	0.56958	D	0.05	-7.9479	14.4542	0.67407	1.0:0.0:0.0:0.0	.	151;283	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	C	283;151	ENSP00000369465:Y283C;ENSP00000381222:Y151C	ENSP00000369465:Y283C	Y	+	2	0	TXLNG	16757798	1.000000	0.71417	0.877000	0.34402	0.547000	0.35210	9.339000	0.96797	1.792000	0.52537	0.417000	0.27973	TAC	TXLNG	-	pfam_Taxilin	ENSG00000086712		0.453	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1	68	0.00	0	A	NM_018360		16847877	16847877	+1	no_errors	ENST00000380122	ensembl	human	known	69_37n	missense	90	26.23	32	SNP	1.000	G
TYRO3	7301	genome.wustl.edu	37	15	41854803	41854803	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:41854803T>C	ENST00000263798.3	+	4	691	c.467T>C	c.(466-468)tTc>tCc	p.F156S	TYRO3_ENST00000559066.1_Missense_Mutation_p.F111S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	156	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AATGCCCCTTTCCAACTGTCT	0.562																																						dbGAP											0													81.0	73.0	76.0					15																	41854803		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.467T>C	15.37:g.41854803T>C	ENSP00000263798:p.Phe156Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F156S	ENST00000263798.3	37	c.467	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	t	25.3	4.623015	0.87460	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.13778	2.56	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41712	D	0.000834	T	0.38295	0.1035	M	0.78456	2.415	0.58432	D	0.999999	D	0.76494	0.999	D	0.74023	0.982	T	0.30416	-0.9979	10	0.72032	D	0.01	-16.5761	14.6724	0.68953	0.0:0.0:0.0:1.0	.	156	Q06418	TYRO3_HUMAN	S	88;156	ENSP00000263798:F156S	ENSP00000263798:F156S	F	+	2	0	TYRO3	39642095	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.283000	0.72646	2.045000	0.60652	0.444000	0.29173	TTC	TYRO3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000092445		0.562	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	54	0.00	0	T			41854803	41854803	+1	no_errors	ENST00000263798	ensembl	human	known	69_37n	missense	39	51.81	43	SNP	1.000	C
TYRO3	7301	genome.wustl.edu	37	15	41854888	41854888	+	Silent	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:41854888T>G	ENST00000263798.3	+	4	776	c.552T>G	c.(550-552)gcT>gcG	p.A184A	TYRO3_ENST00000559066.1_Silent_p.A139A	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	184	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGGACCCGCTCCCTCTCCAT	0.567																																						dbGAP											0													40.0	38.0	39.0					15																	41854888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.552T>G	15.37:g.41854888T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O14953|Q86VR3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A184	ENST00000263798.3	37	c.552	CCDS10080.1	15																																																																																			TYRO3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000092445		0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	38	0.00	0	T			41854888	41854888	+1	no_errors	ENST00000263798	ensembl	human	known	69_37n	silent	53	10.17	6	SNP	0.130	G
TYW1	55253	genome.wustl.edu	37	7	66474575	66474575	+	Silent	SNP	C	C	T	rs376806090		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:66474575C>T	ENST00000359626.5	+	4	443	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	93	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATTAGGGATTCGCAACAGTTC	0.398																																						dbGAP											0													134.0	119.0	124.0					7																	66474575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.279C>T	7.37:g.66474575C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	p.F93	ENST00000359626.5	37	c.279	CCDS5538.1	7																																																																																			TYW1	-	pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	ENSG00000198874		0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW1	HGNC	protein_coding	OTTHUMT00000251932.2	167	0.00	0	C	NM_018264		66474575	66474575	+1	no_errors	ENST00000359626	ensembl	human	known	69_37n	silent	245	25.98	86	SNP	1.000	T
TYW1	55253	genome.wustl.edu	37	7	66490011	66490011	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:66490011T>C	ENST00000359626.5	+	7	1148		c.e7+2			NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAAGAAAAGGTACCGTTACTT	0.403																																						dbGAP											0													152.0	144.0	147.0					7																	66490011		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.984+2T>C	7.37:g.66490011T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Splice_Site	SNP	-	e7+2	ENST00000359626.5	37	c.984+2	CCDS5538.1	7	.	.	.	.	.	.	.	.	.	.	.	14.82	2.650156	0.47362	.	.	ENSG00000198874	ENST00000359626	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0858	0.53695	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYW1	66127446	1.000000	0.71417	0.997000	0.53966	0.533000	0.34776	6.317000	0.72862	1.950000	0.56595	0.260000	0.18958	.	TYW1	-	-	ENSG00000198874		0.403	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW1	HGNC	protein_coding	OTTHUMT00000251932.2	166	0.00	0	T	NM_018264	Intron	66490011	66490011	+1	no_errors	ENST00000359626	ensembl	human	known	69_37n	splice_site	238	25.86	83	SNP	1.000	C
UBA52	7311	genome.wustl.edu	37	19	18685757	18685757	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:18685757A>T	ENST00000442744.2	+	4	326	c.268A>T	c.(268-270)Aac>Tac	p.N90Y	UBA52_ENST00000430157.2_Missense_Mutation_p.N90Y|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595683.1_Missense_Mutation_p.N90Y|UBA52_ENST00000596304.1_Missense_Mutation_p.N90Y|UBA52_ENST00000599551.1_Missense_Mutation_p.N90Y|UBA52_ENST00000599595.1_Missense_Mutation_p.N90Y|UBA52_ENST00000596273.1_Missense_Mutation_p.N90Y|UBA52_ENST00000595158.1_Missense_Mutation_p.N90Y|UBA52_ENST00000598780.1_Missense_Mutation_p.N90Y|UBA52_ENST00000597451.1_Missense_Mutation_p.N90Y	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	90					activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						CCAGAAATACAACTGCGACAA	0.612																																						dbGAP											0													46.0	42.0	43.0					19																	18685757		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.268A>T	19.37:g.18685757A>T	ENSP00000388107:p.Asn90Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Ribosomal_L40e,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.N90Y	ENST00000442744.2	37	c.268	CCDS12382.1	19	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273436	0.80580	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.45668	0.89;0.89	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.93197	3.39	0.58432	D	0.99999	D	0.59767	0.986	P	0.59424	0.857	T	0.76822	-0.2817	10	0.87932	D	0	-2.438	11.7658	0.51930	1.0:0.0:0.0:0.0	.	90	P62987	RL40_HUMAN	Y	90	ENSP00000388107:N90Y;ENSP00000396910:N90Y	ENSP00000396910:N90Y	N	+	1	0	UBA52	18546757	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.564000	0.60830	1.667000	0.50832	0.379000	0.24179	AAC	UBA52	-	pfam_Ribosomal_L40e	ENSG00000221983		0.612	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA52	HGNC	protein_coding	OTTHUMT00000465117.2	41	0.00	0	A	NM_003333		18685757	18685757	+1	no_errors	ENST00000430157	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	T
UBE2Q1	55585	genome.wustl.edu	37	1	154528431	154528431	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:154528431G>T	ENST00000292211.4	-	2	416	c.337C>A	c.(337-339)Cct>Act	p.P113T	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	113					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	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)			GGCACAGCAGGGTATGACTCC	0.512																																						dbGAP											0													66.0	66.0	66.0					1																	154528431		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.337C>A	1.37:g.154528431G>T	ENSP00000292211:p.Pro113Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P113T	ENST00000292211.4	37	c.337	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172621	0.78452	.	.	ENSG00000160714	ENST00000292211	D	0.86562	-2.14	5.08	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	L	0.50333	1.59	0.53005	D	0.999962	D	0.89917	1.0	D	0.87578	0.998	D	0.90074	0.4165	10	0.87932	D	0	-5.3924	12.4101	0.55461	0.0:0.0:0.8309:0.1691	.	113	Q7Z7E8	UB2Q1_HUMAN	T	113	ENSP00000292211:P113T	ENSP00000292211:P113T	P	-	1	0	UBE2Q1	152795055	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.293000	0.96082	1.316000	0.45131	0.563000	0.77884	CCT	UBE2Q1	-	superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000160714		0.512	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	49	0.00	0	G	NM_017582		154528431	154528431	-1	no_errors	ENST00000292211	ensembl	human	known	69_37n	missense	107	23.02	32	SNP	1.000	T
UBR3	130507	genome.wustl.edu	37	2	170753213	170753213	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:170753213T>C	ENST00000272793.5	+	8	1483	c.1433T>C	c.(1432-1434)aTg>aCg	p.M478T	UBR3_ENST00000418381.1_Missense_Mutation_p.M478T			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	478					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTATACATGATGGAAAGTTGC	0.338																																						dbGAP											0													158.0	130.0	139.0					2																	170753213		692	1591	2283	-	-	-	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.1433T>C	2.37:g.170753213T>C	ENSP00000272793:p.Met478Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.M478T	ENST00000272793.5	37	c.1433		2	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029728	0.54790	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.28666	1.6;1.6	5.29	5.29	0.74685	.	.	.	.	.	T	0.47097	0.1427	L	0.61218	1.895	0.80722	D	1	P	0.50156	0.932	P	0.58391	0.838	T	0.31752	-0.9932	9	0.21540	T	0.41	.	15.2163	0.73270	0.0:0.0:0.0:1.0	.	478	Q6ZT12	UBR3_HUMAN	T	478	ENSP00000272793:M478T;ENSP00000396068:M478T	ENSP00000272793:M478T	M	+	2	0	UBR3	170461459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.033000	0.88852	1.993000	0.58246	0.482000	0.46254	ATG	UBR3	-	NULL	ENSG00000144357		0.338	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	72	0.00	0	T	NM_172070		170753213	170753213	+1	no_errors	ENST00000272793	ensembl	human	known	69_37n	missense	85	20.56	22	SNP	1.000	C
UBR3	130507	genome.wustl.edu	37	2	170936530	170936530	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:170936530A>G	ENST00000272793.5	+	37	5456	c.5406A>G	c.(5404-5406)gtA>gtG	p.V1802V	UBR3_ENST00000418381.1_Silent_p.V1802V|UBR3_ENST00000392631.1_Silent_p.V623V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1802	Cys-rich.				embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTGAATGTGTACTGGTAAGCA	0.363																																						dbGAP											0													119.0	111.0	114.0					2																	170936530		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5406A>G	2.37:g.170936530A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	NULL	p.Y864C	ENST00000272793.5	37	c.2591		2	.	.	.	.	.	.	.	.	.	.	A	8.800	0.932686	0.18131	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.2	-3.25	0.05079	.	.	.	.	.	T	0.36413	0.0966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37596	-0.9699	4	.	.	.	.	0.5922	0.00730	0.4108:0.1794:0.2131:0.1967	.	.	.	.	C	864	.	.	Y	+	2	0	UBR3	170644776	0.102000	0.21896	0.965000	0.40720	0.957000	0.61999	0.166000	0.16583	-0.156000	0.11079	0.528000	0.53228	TAC	UBR3	-	NULL	ENSG00000144357		0.363	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	79	0.00	0	A	NM_172070		170936530	170936530	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000392632	ensembl	human	novel	69_37n	missense	101	25.19	34	SNP	0.108	G
UCK2	7371	genome.wustl.edu	37	1	165875172	165875172	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:165875172T>C	ENST00000367879.4	+	6	915	c.612T>C	c.(610-612)gcT>gcC	p.A204A	UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Silent_p.A54A|UCK2_ENST00000470820.1_Silent_p.A54A	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	204					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AGAAGTATGCTGATGTGATCA	0.463																																						dbGAP											0													151.0	130.0	137.0					1																	165875172		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.612T>C	1.37:g.165875172T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Silent	SNP	pfam_PRK/URK,pfam_Depp_CoAkinase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.A204	ENST00000367879.4	37	c.612	CCDS1252.1	1																																																																																			UCK2	-	pfam_PRK/URK,prints_Uridine_kinase,tigrfam_Uridine_kinase	ENSG00000143179		0.463	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK2	HGNC	protein_coding	OTTHUMT00000096753.1	118	0.00	0	T	NM_012474		165875172	165875172	+1	no_errors	ENST00000367879	ensembl	human	known	69_37n	silent	116	25.48	40	SNP	0.461	C
ULBP1	80329	genome.wustl.edu	37	6	150285229	150285229	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:150285229T>A	ENST00000229708.3	+	1	87	c.44T>A	c.(43-45)cTt>cAt	p.L15H		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	15					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TGCCTCCCGCTTCTGCACCTG	0.657																																						dbGAP											0													49.0	53.0	52.0					6																	150285229		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.44T>A	6.37:g.150285229T>A	ENSP00000229708:p.Leu15His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.L15H	ENST00000229708.3	37	c.44	CCDS5223.1	6	.	.	.	.	.	.	.	.	.	.	t	5.819	0.335468	0.11013	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.00940	5.52;5.52	0.82	0.82	0.18793	.	.	.	.	.	T	0.00496	0.0016	M	0.81942	2.565	0.09310	N	1	P	0.47841	0.901	B	0.35073	0.195	T	0.47394	-0.9121	9	0.52906	T	0.07	.	3.8961	0.09139	0.0:0.0:0.0:1.0	.	15	Q9BZM6	N2DL1_HUMAN	H	15	ENSP00000356314:L15H;ENSP00000229708:L15H	ENSP00000229708:L15H	L	+	2	0	ULBP1	150326922	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.145000	0.10265	0.616000	0.30141	0.254000	0.18369	CTT	ULBP1	-	NULL	ENSG00000111981		0.657	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP1	HGNC	protein_coding	OTTHUMT00000042677.2	78	0.00	0	T			150285229	150285229	+1	no_errors	ENST00000229708	ensembl	human	known	69_37n	missense	46	44.71	38	SNP	0.001	A
UNC13D	201294	genome.wustl.edu	37	17	73835919	73835919	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:73835919C>T	ENST00000207549.4	-	12	1435		c.e12+1		UNC13D_ENST00000587504.1_5'Flank|UNC13D_ENST00000412096.2_Splice_Site	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)						defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTGTACTCACGCCATGGACT	0.632									Familial Hemophagocytic Lymphohistiocytosis																													dbGAP											0													95.0	75.0	82.0					17																	73835919		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1055+1G>A	17.37:g.73835919C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWG9|Q9H7K5	Splice_Site	SNP	-	e12+1	ENST00000207549.4	37	c.1055+1	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280517	0.80692	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.562	0.87910	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UNC13D	71347514	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.471000	0.60182	2.378000	0.81104	0.563000	0.77884	.	UNC13D	-	-	ENSG00000092929		0.632	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	26	0.00	0	C	XM_113950	Intron	73835919	73835919	-1	no_errors	ENST00000412096	ensembl	human	known	69_37n	splice_site	34	24.44	11	SNP	1.000	T
UNC50	25972	genome.wustl.edu	37	2	99227309	99227309	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:99227309G>T	ENST00000357765.2	+	3	504	c.352G>T	c.(352-354)Gta>Tta	p.V118L	UNC50_ENST00000409975.1_Missense_Mutation_p.V135L|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.V135L|COA5_ENST00000483527.1_5'Flank|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	118					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CCTTTGGGTTGTACTCATAGA	0.383																																						dbGAP											0													374.0	356.0	362.0					2																	99227309		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.352G>T	2.37:g.99227309G>T	ENSP00000350409:p.Val118Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	pfam_UNC-50	p.V135L	ENST00000357765.2	37	c.403	CCDS2035.1	2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851639	0.91355	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	M	0.66939	2.045	0.80722	D	1	P	0.39601	0.68	P	0.44860	0.462	T	0.70547	-0.4842	9	0.51188	T	0.08	-0.2798	18.3437	0.90314	0.0:0.0:1.0:0.0	.	118	Q53HI1	UNC50_HUMAN	L	118;135;135	.	ENSP00000350409:V118L	V	+	1	0	UNC50	98593741	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.320000	0.96346	2.574000	0.86865	0.455000	0.32223	GTA	UNC50	-	pfam_UNC-50	ENSG00000115446		0.383	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	HGNC	protein_coding	OTTHUMT00000252987.1	260	0.00	0	G	NM_014044		99227309	99227309	+1	no_errors	ENST00000409347	ensembl	human	known	69_37n	missense	310	21.91	87	SNP	1.000	T
UNC5D	137970	genome.wustl.edu	37	8	35624486	35624486	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:35624486C>T	ENST00000404895.2	+	15	2708	c.2380C>T	c.(2380-2382)Cgt>Tgt	p.R794C	UNC5D_ENST00000416672.1_Missense_Mutation_p.R799C|UNC5D_ENST00000420357.1_Missense_Mutation_p.R727C|UNC5D_ENST00000453357.2_Missense_Mutation_p.R789C|UNC5D_ENST00000449677.1_Missense_Mutation_p.R370C|UNC5D_ENST00000287272.2_Missense_Mutation_p.R725C	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	794					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTCCCTGGAGCGTTATACGCC	0.577																																						dbGAP											0													113.0	96.0	101.0					8																	35624486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2380C>T	8.37:g.35624486C>T	ENSP00000385143:p.Arg794Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.R794C	ENST00000404895.2	37	c.2380	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375025	0.82573	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.59502	0.29;0.7;0.69;0.29;0.26;2.16	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.81846	-0.0745	10	0.87932	D	0	-20.0106	19.8057	0.96531	0.0:1.0:0.0:0.0	.	370;789;794	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	C	794;727;725;799;789;370	ENSP00000385143:R794C;ENSP00000392739:R727C;ENSP00000287272:R725C;ENSP00000412652:R799C;ENSP00000394303:R789C;ENSP00000397211:R370C	ENSP00000287272:R725C	R	+	1	0	UNC5D	35744028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.403000	0.44530	2.682000	0.91365	0.655000	0.94253	CGT	UNC5D	-	NULL	ENSG00000156687		0.577	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	52	0.00	0	C			35624486	35624486	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	48	37.66	29	SNP	1.000	T
UNC79	57578	genome.wustl.edu	37	14	94089110	94089110	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:94089110C>T	ENST00000393151.2	+	30	5531	c.5531C>T	c.(5530-5532)gCt>gTt	p.A1844V	UNC79_ENST00000555664.1_Missense_Mutation_p.A1844V|UNC79_ENST00000553484.1_Missense_Mutation_p.A1866V|UNC79_ENST00000256339.4_Missense_Mutation_p.A1667V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1844					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGGAAGATTGCTGTCAGTGCT	0.468																																						dbGAP											0													80.0	74.0	76.0					14																	94089110		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5531C>T	14.37:g.94089110C>T	ENSP00000376858:p.Ala1844Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1866V	ENST00000393151.2	37	c.5597		14	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144532	0.77888	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.28895	1.66;1.59;1.67;1.66	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.32530	0.975	0.58432	D	0.99999	D	0.71674	0.998	D	0.66084	0.941	T	0.38394	-0.9663	10	0.59425	D	0.04	-15.4333	19.535	0.95247	0.0:1.0:0.0:0.0	.	1866	C9JQL1	.	V	1667;1844;1866;1844;1866	ENSP00000256339:A1667V;ENSP00000450868:A1844V;ENSP00000451360:A1866V;ENSP00000376858:A1844V	ENSP00000256339:A1667V	A	+	2	0	KIAA1409	93158863	1.000000	0.71417	0.814000	0.32528	0.970000	0.65996	7.487000	0.81328	2.629000	0.89072	0.484000	0.47621	GCT	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.468	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	45	0.00	0	C	XM_028395		94089110	94089110	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	1.000	T
UPF3B	65109	genome.wustl.edu	37	X	118971805	118971805	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:118971805T>G	ENST00000276201.2	-	10	1286	c.1217A>C	c.(1216-1218)aAg>aCg	p.K406T	UPF3B_ENST00000345865.2_Missense_Mutation_p.K393T|UPF3B_ENST00000478840.1_5'Flank	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	406	Sufficient for association with EJC core.				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)|positive regulation of translation (GO:0045727)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ACTTTCAGCCTTCTTTCCTTT	0.393																																						dbGAP											0													190.0	162.0	171.0					X																	118971805		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1217A>C	X.37:g.118971805T>G	ENSP00000276201:p.Lys406Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.K406T	ENST00000276201.2	37	c.1217	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138273	0.37728	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.79653	-1.27;-1.29	5.72	1.53	0.23141	.	0.388965	0.33457	N	0.004892	T	0.78805	0.4341	M	0.77313	2.365	0.34979	D	0.753893	B;B	0.19817	0.039;0.023	B;B	0.31290	0.127;0.06	T	0.76586	-0.2905	10	0.72032	D	0.01	.	6.0215	0.19632	0.1277:0.161:0.0:0.7113	.	393;406	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	T	406;393	ENSP00000276201:K406T;ENSP00000245418:K393T	ENSP00000276201:K406T	K	-	2	0	UPF3B	118855833	1.000000	0.71417	0.918000	0.36340	0.983000	0.72400	1.663000	0.37429	0.273000	0.22049	0.427000	0.28365	AAG	UPF3B	-	NULL	ENSG00000125351		0.393	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	272	0.00	0	T			118971805	118971805	-1	no_errors	ENST00000276201	ensembl	human	known	69_37n	missense	320	18.78	74	SNP	0.924	G
URB1	9875	genome.wustl.edu	37	21	33746080	33746080	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:33746080A>G	ENST00000382751.3	-	7	867	c.752T>C	c.(751-753)gTa>gCa	p.V251A		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	251						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						ATTGTGAACTACCTGAAACAA	0.308																																						dbGAP											0													92.0	79.0	83.0					21																	33746080		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			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.751-1T>C	21.37:g.33746080A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.V251A	ENST00000382751.3	37	c.752	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137612	0.77775	.	.	ENSG00000142207	ENST00000382751	T	0.55234	0.53	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.73194	0.3556	M	0.74258	2.255	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.76484	-0.2942	10	0.87932	D	0	-19.1748	16.3318	0.83023	1.0:0.0:0.0:0.0	.	251	O60287	NPA1P_HUMAN	A	251	ENSP00000372199:V251A	ENSP00000372199:V251A	V	-	2	0	URB1	32667951	1.000000	0.71417	0.991000	0.47740	0.580000	0.36256	8.488000	0.90458	2.248000	0.74166	0.460000	0.39030	GTA	URB1	-	pfam_Npa1_N	ENSG00000142207		0.308	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	76	0.00	0	A		Missense_Mutation	33746080	33746080	-1	no_errors	ENST00000382751	ensembl	human	known	69_37n	missense	71	34.26	37	SNP	1.000	G
USP13	8975	genome.wustl.edu	37	3	179408081	179408081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:179408081delT	ENST00000263966.3	+	3	818	c.347delT	c.(346-348)attfs	p.I116fs	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Frame_Shift_Del_p.I51fs	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	116					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AATTCCAAGATTTTTTTAGGT	0.353																																						dbGAP											0													153.0	148.0	149.0					3																	179408081		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.347delT	3.37:g.179408081delT	ENSP00000263966:p.Ile116fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S3|B4DYF3|D3DNS2|Q96B25	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L118fs	ENST00000263966.3	37	c.347	CCDS3235.1	3																																																																																			USP13	-	pirsf_Ubiquitinyl_hydrolase	ENSG00000058056		0.353	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	177	0.00	0	T			179408081	179408081	+1	no_errors	ENST00000263966	ensembl	human	known	69_37n	frame_shift_del	314	19.75	78	DEL	1.000	-
USP13	8975	genome.wustl.edu	37	3	179424844	179424844	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:179424844T>C	ENST00000263966.3	+	5	1071	c.600T>C	c.(598-600)aaT>aaC	p.N200N	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.N135N	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	200					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGCTGGACAATGGAGTCAGGA	0.413																																						dbGAP											0													94.0	83.0	87.0					3																	179424844		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.600T>C	3.37:g.179424844T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.N200	ENST00000263966.3	37	c.600	CCDS3235.1	3																																																																																			USP13	-	pirsf_Ubiquitinyl_hydrolase	ENSG00000058056		0.413	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	67	0.00	0	T			179424844	179424844	+1	no_errors	ENST00000263966	ensembl	human	known	69_37n	silent	110	20.86	29	SNP	0.905	C
USP22	23326	genome.wustl.edu	37	17	20919169	20919169	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:20919169A>G	ENST00000261497.4	-	6	937	c.734T>C	c.(733-735)cTg>cCg	p.L245P	USP22_ENST00000537526.2_Missense_Mutation_p.L233P|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	245	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CACCAGGTGCAGCAACTTATA	0.592																																						dbGAP											0													49.0	58.0	55.0					17																	20919169		2028	4174	6202	-	-	-	SO:0001583	missense	0			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.734T>C	17.37:g.20919169A>G	ENSP00000261497:p.Leu245Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L245P	ENST00000261497.4	37	c.734	CCDS42285.1	17	.	.	.	.	.	.	.	.	.	.	a	22.0	4.232112	0.79688	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.34667	1.35;1.35	3.72	3.72	0.42706	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000019	T	0.70011	0.3175	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79988	-0.1571	10	0.87932	D	0	.	12.6784	0.56908	1.0:0.0:0.0:0.0	.	233;245	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	P	313;233;245	ENSP00000440950:L233P;ENSP00000261497:L245P	ENSP00000261497:L245P	L	-	2	0	USP22	20859761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	1.458000	0.47871	0.460000	0.39030	CTG	USP22	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000124422		0.592	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	75	0.00	0	A			20919169	20919169	-1	no_errors	ENST00000261497	ensembl	human	known	69_37n	missense	24	45.65	21	SNP	1.000	G
USP26	83844	genome.wustl.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	dbGAP											3	Insertion - Frameshift(3)	central_nervous_system(3)											122.0	123.0	122.0					X																	132160788		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1461delT	X.37:g.132160788delA	ENSP00000423390:p.Phe487fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F487fs	ENST00000511190.1	37	c.1461	CCDS14635.1	X																																																																																			USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000134588		0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	21	0.00	0	A	NM_031907		132160788	132160788	-1	no_errors	ENST00000370832	ensembl	human	known	69_37n	frame_shift_del	36	23.40	11	DEL	0.033	-
USP31	57478	genome.wustl.edu	37	16	23117794	23117794	+	Silent	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:23117794A>C	ENST00000219689.7	-	3	785	c.786T>G	c.(784-786)acT>acG	p.T262T		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	202	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCATCATATCAGTCTCTGATG	0.393																																						dbGAP											0													60.0	55.0	57.0					16																	23117794		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.786T>G	16.37:g.23117794A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.T262	ENST00000219689.7	37	c.786	CCDS10607.1	16																																																																																			USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000103404		0.393	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	36	0.00	0	A	NM_020718		23117794	23117794	-1	no_errors	ENST00000219689	ensembl	human	known	69_37n	silent	61	19.74	15	SNP	1.000	C
USP33	23032	genome.wustl.edu	37	1	78181537	78181537	+	Silent	SNP	G	G	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:78181537G>T	ENST00000370793.1	-	19	2374	c.2028C>A	c.(2026-2028)gcC>gcA	p.A676A	USP33_ENST00000357428.1_Silent_p.A676A|USP33_ENST00000370792.3_Silent_p.A668A|USP33_ENST00000370794.3_Silent_p.A645A	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	676	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|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)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	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)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTCGGCAGTAGGCTATATAGT	0.348																																					Melanoma(152;72 1870 11110 26780 42647)	dbGAP											0													70.0	67.0	68.0					1																	78181537		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2028C>A	1.37:g.78181537G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.P93H	ENST00000370793.1	37	c.278	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.865999	0.17250	.	.	ENSG00000077254	ENST00000481579	.	.	.	4.46	3.53	0.40419	.	.	.	.	.	T	0.32255	0.0823	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27297	-1.0078	4	.	.	.	.	3.7502	0.08563	0.2436:0.0:0.5641:0.1922	.	.	.	.	H	281	.	.	P	-	2	0	USP33	77954125	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.375000	0.20518	1.166000	0.42689	0.655000	0.94253	CCT	USP33	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000077254		0.348	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	96	0.00	0	G	NM_015017		78181537	78181537	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000527390	ensembl	human	known	69_37n	missense	73	34.82	39	SNP	1.000	T
USP34	9736	genome.wustl.edu	37	2	61456055	61456055	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:61456055T>C	ENST00000398571.2	-	60	7351	c.7275A>G	c.(7273-7275)ttA>ttG	p.L2425L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2425					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCATAATTAATAACAGGGTTC	0.378																																						dbGAP											0													105.0	100.0	101.0					2																	61456055		1868	4098	5966	-	-	-	SO:0001819	synonymous_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7275A>G	2.37:g.61456055T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I185V	ENST00000398571.2	37	c.553	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236230	0.22626	.	.	ENSG00000115464	ENST00000411912	.	.	.	6.17	2.63	0.31362	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46624	-0.9178	4	.	.	.	.	6.7732	0.23604	0.0:0.4546:0.0:0.5454	.	.	.	.	V	185	.	.	I	-	1	0	USP34	61309559	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.156000	0.50708	0.581000	0.29539	0.533000	0.62120	ATT	USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	76	0.00	0	T			61456055	61456055	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000411912	ensembl	human	novel	69_37n	missense	79	37.80	48	SNP	1.000	C
USP34	9736	genome.wustl.edu	37	2	61575404	61575404	+	Missense_Mutation	SNP	T	T	C	rs370180925		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:61575404T>C	ENST00000398571.2	-	15	1962	c.1886A>G	c.(1885-1887)cAt>cGt	p.H629R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	629					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTATGACCATGATCATCGTC	0.498																																						dbGAP											0													76.0	74.0	74.0					2																	61575404		2009	4180	6189	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1886A>G	2.37:g.61575404T>C	ENSP00000381577:p.His629Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.H629R	ENST00000398571.2	37	c.1886	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	6.715	0.500534	0.12822	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.43294	0.95	6.07	1.11	0.20524	.	0.503518	0.22216	N	0.063035	T	0.16854	0.0405	N	0.04508	-0.205	0.28464	N	0.915759	B	0.02656	0.0	B	0.01281	0.0	T	0.26395	-1.0104	10	0.11182	T	0.66	.	9.0455	0.36345	0.0:0.3997:0.0:0.6003	.	629	Q70CQ2	UBP34_HUMAN	R	477;477;629	ENSP00000381577:H629R	ENSP00000263989:H477R	H	-	2	0	USP34	61428908	0.997000	0.39634	0.540000	0.28089	0.074000	0.17049	2.899000	0.48679	0.175000	0.19841	0.528000	0.53228	CAT	USP34	-	NULL	ENSG00000115464		0.498	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	77	0.00	0	T			61575404	61575404	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	74	18.68	17	SNP	0.817	C
USP54	159195	genome.wustl.edu	37	10	75289458	75289458	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:75289458A>G	ENST00000339859.4	-	14	2140	c.2040T>C	c.(2038-2040)ccT>ccC	p.P680P	USP54_ENST00000408019.1_Silent_p.P680P|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Silent_p.P680P|USP54_ENST00000428547.1_Silent_p.P530P|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	680					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TTGAGCTCTCAGGCAGGGCTG	0.517											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(195;880 2046 8854 25025 38456)	dbGAP											0													134.0	137.0	136.0					10																	75289458		2068	4216	6284	-	-	-	SO:0001819	synonymous_variant	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2040T>C	10.37:g.75289458A>G		Somatic	1159	WXS	Illumina GAIIx	Phase_IV	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Nonstop_Mutation	SNP	NULL	p.*478R	ENST00000339859.4	37	c.1432	CCDS7329.2	10																																																																																			USP54	-	NULL	ENSG00000166348		0.517	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	54	0.00	0	A	NM_152586		75289458	75289458	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000424265	ensembl	human	known	69_37n	nonstop	103	32.24	49	SNP	0.840	G
USP6	9098	genome.wustl.edu	37	17	5072193	5072193	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:5072193T>C	ENST00000574788.1	+	35	5590	c.3360T>C	c.(3358-3360)caT>caC	p.H1120H	USP6_ENST00000304328.5_Silent_p.H803H|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Silent_p.H1120H			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1120	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						TCTGCCAGCATAAACCACTCA	0.498			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	dbGAP		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													103.0	112.0	109.0					17																	5072193		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.3360T>C	17.37:g.5072193T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15634|Q86WP6|Q8IWT4	Silent	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.H1120	ENST00000574788.1	37	c.3360	CCDS11069.2	17																																																																																			USP6	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000129204		0.498	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	76	0.00	0	T	NM_004505		5072193	5072193	+1	no_errors	ENST00000250066	ensembl	human	known	69_37n	silent	91	15.74	17	SNP	0.942	C
UTP20	27340	genome.wustl.edu	37	12	101680248	101680248	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:101680248T>C	ENST00000261637.4	+	5	650	c.476T>C	c.(475-477)cTg>cCg	p.L159P		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	159					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TATAAGTACCTGTGGAGACTG	0.408																																						dbGAP											0													191.0	193.0	192.0					12																	101680248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.476T>C	12.37:g.101680248T>C	ENSP00000261637:p.Leu159Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L159P	ENST00000261637.4	37	c.476	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406879	0.83230	.	.	ENSG00000120800	ENST00000261637	T	0.67865	-0.29	5.29	5.29	0.74685	Armadillo-type fold (1);	0.000000	0.64402	D	0.000007	D	0.83839	0.5341	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87081	0.2166	10	0.87932	D	0	-8.6114	15.2354	0.73427	0.0:0.0:0.0:1.0	.	159	O75691	UTP20_HUMAN	P	159	ENSP00000261637:L159P	ENSP00000261637:L159P	L	+	2	0	UTP20	100204379	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.974000	0.88039	1.999000	0.58509	0.455000	0.32223	CTG	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	143	0.00	0	T	NM_014503		101680248	101680248	+1	no_errors	ENST00000261637	ensembl	human	known	69_37n	missense	112	34.30	59	SNP	1.000	C
UTRN	7402	genome.wustl.edu	37	6	144750006	144750006	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:144750006T>G	ENST00000367545.3	+	7	671	c.671T>G	c.(670-672)aTt>aGt	p.I224S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	224	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TATTTGGGAATTGAAAAGCTG	0.378																																						dbGAP											0													100.0	95.0	96.0					6																	144750006		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.671T>G	6.37:g.144750006T>G	ENSP00000356515:p.Ile224Ser	Somatic		WXS	Illumina GAIIx	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.I224S	ENST00000367545.3	37	c.671	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335574	0.81801	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	D	0.96885	-4.16	5.5	5.5	0.81552	Calponin homology domain (5);	0.000000	0.48286	D	0.000192	D	0.98754	0.9581	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99768	1.1023	10	0.87932	D	0	.	15.6121	0.76733	0.0:0.0:0.0:1.0	.	224	P46939	UTRO_HUMAN	S	224	ENSP00000356515:I224S	ENSP00000356499:I224S	I	+	2	0	UTRN	144791699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.902000	0.87389	2.075000	0.62263	0.533000	0.62120	ATT	UTRN	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain	ENSG00000152818		0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	138	0.00	0	T			144750006	144750006	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	123	29.31	51	SNP	1.000	G
VSIG10	54621	genome.wustl.edu	37	12	118506394	118506394	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:118506394T>G	ENST00000359236.5	-	8	1631	c.1355A>C	c.(1354-1356)aAc>aCc	p.N452T		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	452						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						ATCATCCATGTTTTGTCCCCT	0.448																																						dbGAP											0													59.0	51.0	53.0					12																	118506394		1947	4130	6077	-	-	-	SO:0001583	missense	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1355A>C	12.37:g.118506394T>G	ENSP00000352172:p.Asn452Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.N452T	ENST00000359236.5	37	c.1355	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648718	0.29336	.	.	ENSG00000176834	ENST00000359236	T	0.52983	0.64	4.88	4.88	0.63580	.	0.169738	0.28273	N	0.015945	T	0.30103	0.0754	N	0.22421	0.69	0.21579	N	0.999638	B	0.17667	0.023	B	0.14023	0.01	T	0.14090	-1.0485	10	0.09843	T	0.71	-11.4078	11.1792	0.48618	0.0:0.0:0.0:1.0	.	452	Q8N0Z9	VSI10_HUMAN	T	452	ENSP00000352172:N452T	ENSP00000352172:N452T	N	-	2	0	VSIG10	116990777	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.130000	0.57964	1.953000	0.56701	0.460000	0.39030	AAC	VSIG10	-	NULL	ENSG00000176834		0.448	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	135	0.00	0	T	NM_019086		118506394	118506394	-1	no_errors	ENST00000359236	ensembl	human	known	69_37n	missense	87	43.51	67	SNP	1.000	G
VWA3B	200403	genome.wustl.edu	37	2	98928507	98928507	+	Intron	DEL	G	G	-	rs374561862		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:98928507delG	ENST00000477737.1	+	27	3939				VWA3B_ENST00000490947.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGGGTGATGGGGGGGGAAC	0.592																																						dbGAP											0													9.0	12.0	11.0					2																	98928507		1915	4099	6014	-	-	-	SO:0001627	intron_variant	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3735+12G>-	2.37:g.98928507delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Frame_Shift_Del	DEL	pfscan_VWF_A	p.G662fs	ENST00000477737.1	37	c.1978	CCDS42718.1	2																																																																																			VWA3B	-	NULL	ENSG00000168658		0.592	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	18	0.00	0	G	NM_144992		98928507	98928507	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000473149	ensembl	human	putative	69_37n	frame_shift_del	19	24.00	6	DEL	0.004	-
VWA8	23078	genome.wustl.edu	37	13	42267042	42267042	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr13:42267042T>A	ENST00000379310.3	-	30	3699	c.3631A>T	c.(3631-3633)Aag>Tag	p.K1211*	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1211						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GATGTAAACTTCTCGGAAGGG	0.403																																						dbGAP											0													91.0	85.0	87.0					13																	42267042		1829	4081	5910	-	-	-	SO:0001587	stop_gained	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3631A>T	13.37:g.42267042T>A	ENSP00000368612:p.Lys1211*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.K1211*	ENST00000379310.3	37	c.3631	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	T	39	7.663430	0.98419	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	.	.	.	5.64	4.77	0.60923	.	0.369375	0.27464	N	0.019251	.	.	.	.	.	.	0.37283	D	0.907907	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	12.2615	0.54652	0.0:0.9165:0.0:0.0835	.	.	.	.	X	1115;1211	.	ENSP00000251030:K1115X	K	-	1	0	KIAA0564	41165042	0.046000	0.20272	0.062000	0.19696	0.002000	0.02628	0.618000	0.24373	1.372000	0.46190	-0.177000	0.13119	AAG	VWA8	-	NULL	ENSG00000102763		0.403	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	121	0.00	0	T	NM_015058		42267042	42267042	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	nonsense	127	32.63	62	SNP	0.212	A
WBP1	23559	genome.wustl.edu	37	2	74687596	74687596	+	Frame_Shift_Del	DEL	C	C	-	rs564721270		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:74687596delC	ENST00000233615.2	+	4	872	c.598delC	c.(598-600)cccfs	p.P201fs	MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P198fs|WBP1_ENST00000393972.3_Frame_Shift_Del_p.P235fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	201							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCCTCCACACCCCCCTCCTG	0.627																																						dbGAP											0													57.0	71.0	66.0					2																	74687596		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			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.598delC	2.37:g.74687596delC	ENSP00000233615:p.Pro201fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE02|O95637	Frame_Shift_Del	DEL	pfam_Uncharacterised_WW-bd	p.S202fs	ENST00000233615.2	37	c.598	CCDS1943.1	2																																																																																			WBP1	-	NULL	ENSG00000239779		0.627	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	22	0.00	0	C	NM_012477		74687596	74687596	+1	no_errors	ENST00000233615	ensembl	human	known	69_37n	frame_shift_del	25	21.88	7	DEL	0.022	-
WBP11P1	441818	genome.wustl.edu	37	18	30092416	30092416	+	RNA	DEL	C	C	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:30092416delC	ENST00000567636.1	+	0	791					NR_003558.1				WW domain binding protein 11 pseudogene 1																		TCTTGGCCCTCCCCCTGGTCC	0.557																																						dbGAP											0																																										-	-	-			0			BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092416delC		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000567636.1	37	NULL		18																																																																																			WBP11P1	-	-	ENSG00000260389		0.557	WBP11P1-002	KNOWN	basic	processed_transcript	WBP11P1	HGNC	pseudogene	OTTHUMT00000435119.1	43	0.00	0	C			30092416	30092416	+1	no_errors	ENST00000567636	ensembl	human	known	69_37n	rna	32	38.46	20	DEL	1.000	-
WBP2	23558	genome.wustl.edu	37	17	73851355	73851355	+	Silent	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:73851355C>A	ENST00000591399.1	-	2	448	c.24G>T	c.(22-24)tcG>tcT	p.S8S	WBP2_ENST00000254806.3_Silent_p.S8S|WBP2_ENST00000585462.1_5'UTR|WBP2_ENST00000433525.2_Silent_p.S8S|WBP2_ENST00000344296.4_5'UTR|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000590221.1_Silent_p.S8S			Q969T9	WBP2_HUMAN	WW domain binding protein 2	8	GRAM.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)	p.S8S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCGCCCTCCGAGTGATTCT	0.592																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											152.0	153.0	153.0					17																	73851355		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.24G>T	17.37:g.73851355C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95638	Silent	SNP	pfam_WW-domain-binding,pfam_GRAM	p.S8	ENST00000591399.1	37	c.24	CCDS11731.1	17																																																																																			WBP2	-	pfam_GRAM	ENSG00000132471		0.592	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2	HGNC	protein_coding	OTTHUMT00000448862.1	41	0.00	0	C	NM_012478		73851355	73851355	-1	no_errors	ENST00000254806	ensembl	human	known	69_37n	silent	77	19.79	19	SNP	0.998	A
WDR37	22884	genome.wustl.edu	37	10	1149703	1149703	+	Silent	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr10:1149703T>G	ENST00000358220.1	+	10	1032	c.888T>G	c.(886-888)gcT>gcG	p.A296A	WDR37_ENST00000263150.4_Silent_p.A296A			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	296										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GGAAGCAGGCTGTGACTGCCT	0.652																																						dbGAP											0													64.0	57.0	59.0					10																	1149703		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.888T>G	10.37:g.1149703T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Silent	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.A296	ENST00000358220.1	37	c.888	CCDS7057.1	10																																																																																			WDR37	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000047056		0.652	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1	19	0.00	0	T	NM_014023		1149703	1149703	+1	no_errors	ENST00000263150	ensembl	human	known	69_37n	silent	23	25.81	8	SNP	0.007	G
WDR66	144406	genome.wustl.edu	37	12	122399920	122399920	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:122399920C>A	ENST00000288912.4	+	15	3198	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M	WDR66_ENST00000397454.2_Missense_Mutation_p.L782M|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	782							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAAAGACCACCTGGAAGTCCT	0.517																																					Esophageal Squamous(85;849 1794 49757 52143)	dbGAP											0													102.0	103.0	103.0					12																	122399920		1973	4156	6129	-	-	-	SO:0001583	missense	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2344C>A	12.37:g.122399920C>A	ENSP00000288912:p.Leu782Met	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L782M	ENST00000288912.4	37	c.2344	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759675	0.49468	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.58940	0.3;1.25	5.33	4.44	0.53790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78201	0.4246	M	0.88570	2.965	0.46222	D	0.998935	D	0.89917	1.0	D	0.85130	0.997	T	0.81506	-0.0902	10	0.62326	D	0.03	.	12.0936	0.53742	0.0:0.8572:0.0:0.1428	.	782	Q8TBY9	WDR66_HUMAN	M	782	ENSP00000288912:L782M;ENSP00000380595:L782M	ENSP00000288912:L782M	L	+	1	2	WDR66	120884303	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	2.926000	0.48892	1.258000	0.44101	0.555000	0.69702	CTG	WDR66	-	superfamily_WD40_repeat_dom	ENSG00000158023		0.517	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	50	0.00	0	C	NM_144668		122399920	122399920	+1	no_errors	ENST00000288912	ensembl	human	known	69_37n	missense	35	46.15	30	SNP	1.000	A
WDR87	83889	genome.wustl.edu	37	19	38380339	38380339	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:38380339T>C	ENST00000303868.5	-	6	4079	c.3855A>G	c.(3853-3855)gaA>gaG	p.E1285E	WDR87_ENST00000447313.2_Silent_p.E1324E	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1285										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CCTGAAAGAGTTCCCAGCTGG	0.453																																						dbGAP											0													163.0	131.0	141.0					19																	38380339		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3855A>G	19.37:g.38380339T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1324	ENST00000303868.5	37	c.3972	CCDS46063.1	19																																																																																			WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.453	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	119	0.00	0	T	XM_940478		38380339	38380339	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	silent	178	22.75	53	SNP	0.002	C
WDR87	83889	genome.wustl.edu	37	19	38386920	38386920	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:38386920A>G	ENST00000303868.5	-	3	328	c.104T>C	c.(103-105)cTg>cCg	p.L35P	WDR87_ENST00000447313.2_Missense_Mutation_p.L35P	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	35										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CAGCACAATCAGGCAGTTCTT	0.488																																						dbGAP											0													128.0	112.0	117.0					19																	38386920		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.104T>C	19.37:g.38386920A>G	ENSP00000368025:p.Leu35Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L35P	ENST00000303868.5	37	c.104	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	A	9.696	1.153313	0.21371	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.11821	2.75;2.74	5.52	3.37	0.38596	WD40/YVTN repeat-like-containing domain (1);	1.215660	0.06231	N	0.688759	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	P;P	0.46277	0.875;0.875	B;B	0.38562	0.276;0.276	T	0.16305	-1.0407	10	0.62326	D	0.03	-2.4327	1.2958	0.02069	0.5368:0.1504:0.0987:0.2141	.	35;35	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	P	35	ENSP00000405012:L35P;ENSP00000368025:L35P	ENSP00000368025:L35P	L	-	2	0	WDR87	43078760	0.002000	0.14202	0.004000	0.12327	0.054000	0.15201	0.344000	0.19962	0.935000	0.37341	0.523000	0.50628	CTG	WDR87	-	NULL	ENSG00000171804		0.488	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	80	0.00	0	A	XM_940478		38386920	38386920	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	96	20.66	25	SNP	0.000	G
WFS1	7466	genome.wustl.edu	37	4	6302783	6302783	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:6302783A>G	ENST00000226760.1	+	8	1431	c.1261A>G	c.(1261-1263)Atc>Gtc	p.I421V	WFS1_ENST00000503569.1_Missense_Mutation_p.I421V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	421					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CTCCTTCCCCATCGCCAGCAA	0.592																																						dbGAP											0													177.0	177.0	177.0					4																	6302783		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1261A>G	4.37:g.6302783A>G	ENSP00000226760:p.Ile421Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.I421V	ENST00000226760.1	37	c.1261	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.236281	0.00023	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.87103	-2.21;-2.21	4.73	-9.46	0.00597	.	0.684670	0.13907	N	0.354499	T	0.66287	0.2774	N	0.25031	0.7	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55811	-0.8082	10	0.18276	T	0.48	-15.425	2.2125	0.03951	0.2104:0.2291:0.3729:0.1876	.	421	O76024	WFS1_HUMAN	V	421	ENSP00000423337:I421V;ENSP00000226760:I421V	ENSP00000226760:I421V	I	+	1	0	WFS1	6353684	0.001000	0.12720	0.061000	0.19648	0.002000	0.02628	-0.093000	0.11111	-2.474000	0.00527	-1.293000	0.01348	ATC	WFS1	-	NULL	ENSG00000109501		0.592	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1	114	0.00	0	A			6302783	6302783	+1	no_errors	ENST00000226760	ensembl	human	known	69_37n	missense	101	33.99	52	SNP	0.001	G
WHAMMP2	440253	genome.wustl.edu	37	15	28989965	28989965	+	RNA	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:28989965C>A	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		GAAGAATGGACCAGACGGGCT	0.413																																						dbGAP											0																																										-	-	-			0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28989965C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.413	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	39	0.00	0	C	NR_026589		28989965	28989965	+1	no_errors	ENST00000508764	ensembl	human	putative	69_37n	rna	31	29.55	13	SNP	0.476	A
WNT5B	81029	genome.wustl.edu	37	12	1740587	1740587	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:1740587G>A	ENST00000397196.2	+	2	299	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	WNT5B_ENST00000542408.1_Missense_Mutation_p.A23T|WNT5B_ENST00000310594.3_Missense_Mutation_p.A23T|WNT5B_ENST00000537031.1_Missense_Mutation_p.A23T	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	23					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TCTGACAGACGCCAACTCCTG	0.647																																						dbGAP											0													74.0	70.0	72.0					12																	1740587		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.67G>A	12.37:g.1740587G>A	ENSP00000380379:p.Ala23Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.A23T	ENST00000397196.2	37	c.67	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486618	0.63962	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;D;T;T;T;D;T	0.88046	-1.12;-1.81;-1.01;-1.01;-1.01;-2.33;-0.13	5.38	5.38	0.77491	.	4.966080	0.01236	N	0.008492	D	0.87869	0.6286	L	0.54323	1.7	0.80722	D	1	B	0.23650	0.089	B	0.14578	0.011	T	0.57590	-0.7785	10	0.21014	T	0.42	.	19.1775	0.93609	0.0:0.0:1.0:0.0	.	23	Q9H1J7	WNT5B_HUMAN	T	23	ENSP00000438414:A23T;ENSP00000445395:A23T;ENSP00000439312:A23T;ENSP00000308887:A23T;ENSP00000380379:A23T;ENSP00000442348:A23T;ENSP00000440600:A23T	ENSP00000308887:A23T	A	+	1	0	WNT5B	1610848	1.000000	0.71417	0.952000	0.39060	0.564000	0.35744	9.111000	0.94308	2.532000	0.85374	0.555000	0.69702	GCC	WNT5B	-	NULL	ENSG00000111186		0.647	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	31	0.00	0	G			1740587	1740587	+1	no_errors	ENST00000310594	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	A
XDH	7498	genome.wustl.edu	37	2	31565141	31565141	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:31565141A>C	ENST00000379416.3	-	32	3475	c.3427T>G	c.(3427-3429)Ttt>Gtt	p.F1143V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TTAGTCTCAAAGCTGTAGCCC	0.488																																					Colon(66;682 1445 30109 40147)	dbGAP											0													117.0	109.0	112.0					2																	31565141		2203	4300	6503	-	-	-	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3427T>G	2.37:g.31565141A>C	ENSP00000368727:p.Phe1143Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.F1143V	ENST00000379416.3	37	c.3427	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535269	0.45176	.	.	ENSG00000158125	ENST00000379416	T	0.37915	1.17	5.62	4.48	0.54585	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.191520	0.56097	D	0.000022	T	0.35393	0.0930	M	0.62154	1.92	0.53688	D	0.999972	B	0.30211	0.273	B	0.36418	0.224	T	0.26780	-1.0093	10	0.54805	T	0.06	.	4.5801	0.12255	0.7052:0.0:0.1521:0.1428	.	1143	P47989	XDH_HUMAN	V	1143	ENSP00000368727:F1143V	ENSP00000368727:F1143V	F	-	1	0	XDH	31418645	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	4.096000	0.57734	0.972000	0.38314	0.459000	0.35465	TTT	XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.488	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	63	0.00	0	A	NM_000379		31565141	31565141	-1	no_errors	ENST00000379416	ensembl	human	known	69_37n	missense	58	45.87	50	SNP	0.999	C
XPO1	7514	genome.wustl.edu	37	2	61709572	61709572	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:61709572A>G	ENST00000401558.2	-	23	3642	c.2915T>C	c.(2914-2916)aTc>aCc	p.I972T	RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.I972T|XPO1_ENST00000404992.2_Missense_Mutation_p.I972T|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	972					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTGAAGAAAGATTTGGTTGTT	0.353			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													130.0	132.0	132.0					2																	61709572		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2915T>C	2.37:g.61709572A>G	ENSP00000384863:p.Ile972Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I972T	ENST00000401558.2	37	c.2915	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	A	8.791	0.930619	0.18131	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.67698	-0.28;-0.28;-0.28	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.214203	0.51477	D	0.000091	T	0.46073	0.1374	N	0.08118	0	0.38578	D	0.950125	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45411	-0.9263	10	0.14252	T	0.57	-13.0306	15.8252	0.78698	1.0:0.0:0.0:0.0	.	619;972	B3KWD0;O14980	.;XPO1_HUMAN	T	972	ENSP00000384863:I972T;ENSP00000385942:I972T;ENSP00000385559:I972T	ENSP00000384863:I972T	I	-	2	0	XPO1	61563076	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.620000	0.54203	2.197000	0.70478	0.482000	0.46254	ATC	XPO1	-	pfam_CRM1_C_dom,superfamily_ARM-type_fold	ENSG00000082898		0.353	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	100	0.00	0	A	NM_003400		61709572	61709572	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	134	33.00	66	SNP	1.000	G
XPO6	23214	genome.wustl.edu	37	16	28123194	28123194	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:28123194T>C	ENST00000304658.5	-	17	2785	c.2285A>G	c.(2284-2286)tAt>tGt	p.Y762C	XPO6_ENST00000565698.1_Missense_Mutation_p.Y748C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	762					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CAGGTTGCGATAGTCCCGGGA	0.582																																						dbGAP											0													80.0	86.0	84.0					16																	28123194		2116	4231	6347	-	-	-	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2285A>G	16.37:g.28123194T>C	ENSP00000302790:p.Tyr762Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Y762C	ENST00000304658.5	37	c.2285	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	T	28.1	4.890017	0.91889	.	.	ENSG00000169180	ENST00000304658	T	0.66995	-0.24	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75946	0.3919	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59703	0.804;0.862	T	0.75797	-0.3191	10	0.40728	T	0.16	-10.6829	14.0497	0.64727	0.0:0.0:0.0:1.0	.	762;762	B7ZM10;Q96QU8	.;XPO6_HUMAN	C	762	ENSP00000302790:Y762C	ENSP00000302790:Y762C	Y	-	2	0	XPO6	28030695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.628000	0.83189	2.216000	0.71823	0.528000	0.53228	TAT	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.582	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	92	0.00	0	T	XM_055195		28123194	28123194	-1	no_errors	ENST00000304658	ensembl	human	known	69_37n	missense	171	12.76	25	SNP	1.000	C
YAP1	10413	genome.wustl.edu	37	11	102076658	102076658	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:102076658G>A	ENST00000282441.5	+	5	1225	c.837G>A	c.(835-837)gtG>gtA	p.V279V	YAP1_ENST00000531439.1_Silent_p.V279V|YAP1_ENST00000537274.1_Silent_p.V279V|YAP1_ENST00000345877.2_Silent_p.V241V|YAP1_ENST00000526343.1_Silent_p.V241V|YAP1_ENST00000524575.1_Silent_p.V101V	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	279					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GTGCTCCAGTGAAACAGCCAC	0.478																																					Colon(50;247 1103 7861 28956)	dbGAP											0													39.0	45.0	43.0					11																	102076658		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.837G>A	11.37:g.102076658G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.V279	ENST00000282441.5	37	c.837	CCDS44716.1	11																																																																																			YAP1	-	NULL	ENSG00000137693		0.478	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	23	0.00	0	G	NM_006106		102076658	102076658	+1	no_errors	ENST00000282441	ensembl	human	known	69_37n	silent	8	63.64	14	SNP	0.995	A
YARS	8565	genome.wustl.edu	37	1	33248059	33248059	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:33248059T>C	ENST00000373477.4	-	9	1896	c.988A>G	c.(988-990)Acc>Gcc	p.T330A	YARS_ENST00000469100.1_5'Flank	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	330					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGGGCAGGGGTATTAAACTTT	0.512																																						dbGAP											0													118.0	116.0	117.0					1																	33248059		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.988A>G	1.37:g.33248059T>C	ENSP00000362576:p.Thr330Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth	p.T330A	ENST00000373477.4	37	c.988	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544537	0.27563	.	.	ENSG00000134684	ENST00000373477	T	0.70399	-0.48	4.65	-0.376	0.12505	.	0.680890	0.14972	N	0.287765	T	0.45094	0.1325	N	0.12182	0.205	0.30602	N	0.760418	B	0.02656	0.0	B	0.01281	0.0	T	0.28870	-1.0030	10	0.36615	T	0.2	-1.5105	4.572	0.12214	0.3638:0.1414:0.0:0.4947	.	330	P54577	SYYC_HUMAN	A	330	ENSP00000362576:T330A	ENSP00000362576:T330A	T	-	1	0	YARS	33020646	0.996000	0.38824	0.911000	0.35937	0.964000	0.63967	1.974000	0.40559	0.037000	0.15575	0.460000	0.39030	ACC	YARS	-	NULL	ENSG00000134684		0.512	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	120	0.80	1	T	NM_003680		33248059	33248059	-1	no_errors	ENST00000373477	ensembl	human	known	69_37n	missense	114	21.57	33	SNP	0.747	C
YBEY	54059	genome.wustl.edu	37	21	47706935	47706935	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr21:47706935C>T	ENST00000329319.3	+	2	506	c.108C>T	c.(106-108)gaC>gaT	p.D36D	YBEY_ENST00000397701.4_Silent_p.D36D|YBEY_ENST00000397694.1_Intron|YBEY_ENST00000339195.6_Silent_p.D36D|YBEY_ENST00000397692.1_Intron|MCM3AP_ENST00000291688.1_5'Flank|YBEY_ENST00000397691.1_Silent_p.D36D|MCM3AP_ENST00000397708.1_5'Flank	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	36					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						AGAAATTTGACCTGGGGATCA	0.423																																						dbGAP											0													96.0	94.0	95.0					21																	47706935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.108C>T	21.37:g.47706935C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPA9|B7WPF7|D3DSN2	Silent	SNP	pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd	p.D36	ENST00000329319.3	37	c.108	CCDS33591.1	21																																																																																			YBEY	-	pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd	ENSG00000182362		0.423	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	HGNC	protein_coding	OTTHUMT00000207265.1	83	0.00	0	C	NM_058181		47706935	47706935	+1	no_errors	ENST00000329319	ensembl	human	known	69_37n	silent	84	26.96	31	SNP	1.000	T
MAP3K19	80122	genome.wustl.edu	37	2	135779315	135779315	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr2:135779315G>A	ENST00000375845.3	-	2	138	c.108C>T	c.(106-108)aaC>aaT	p.N36N	MAP3K19_ENST00000358371.4_Silent_p.N36N|MAP3K19_ENST00000392918.3_Silent_p.N36N|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Silent_p.N36N|MAP3K19_ENST00000392915.1_Silent_p.N53N|MAP3K19_ENST00000392917.3_Silent_p.N36N	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	36							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GCAAGATGATGTTTTGATTTT	0.373																																						dbGAP											0													161.0	144.0	149.0					2																	135779315		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.108C>T	2.37:g.135779315G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.N36	ENST00000375845.3	37	c.108	CCDS2176.2	2																																																																																			YSK4	-	NULL	ENSG00000176601		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YSK4	HGNC	protein_coding	OTTHUMT00000158244.1	118	0.00	0	G	NM_025052		135779315	135779315	-1	no_errors	ENST00000375845	ensembl	human	known	69_37n	silent	141	28.06	55	SNP	0.996	A
YY1	7528	genome.wustl.edu	37	14	100742955	100742955	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr14:100742955A>C	ENST00000262238.4	+	4	1292	c.1032A>C	c.(1030-1032)caA>caC	p.Q344H		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	344	Binding to DNA.|Involved in repression of activated transcription.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AACGACACCAACTGGTTCATA	0.512																																						dbGAP											0													105.0	102.0	103.0					14																	100742955		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.1032A>C	14.37:g.100742955A>C	ENSP00000262238:p.Gln344His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.Q344H	ENST00000262238.4	37	c.1032	CCDS9957.1	14	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295951	0.60086	.	.	ENSG00000100811	ENST00000262238	T	0.41758	0.99	5.4	-6.27	0.02026	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.50565	0.1623	L	0.53617	1.68	0.58432	D	0.999995	D	0.89917	1.0	D	0.69654	0.965	T	0.59156	-0.7507	10	0.56958	D	0.05	.	14.077	0.64895	0.2781:0.0:0.6235:0.0984	.	344	P25490	TYY1_HUMAN	H	344	ENSP00000262238:Q344H	ENSP00000262238:Q344H	Q	+	3	2	YY1	99812708	0.997000	0.39634	0.627000	0.29227	0.993000	0.82548	0.375000	0.20518	-1.494000	0.01833	-0.256000	0.11100	CAA	YY1	-	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	ENSG00000100811		0.512	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	74	0.00	0	A	NM_003403		100742955	100742955	+1	no_errors	ENST00000262238	ensembl	human	known	69_37n	missense	118	20.81	31	SNP	0.577	C
YY1AP1	55249	genome.wustl.edu	37	1	155631112	155631112	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:155631112G>A	ENST00000295566.4	-	10	1143	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	YY1AP1_ENST00000368340.5_Missense_Mutation_p.P446S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P328S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P297S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P317S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P466S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P328S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P174S|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P317S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.P466S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P297S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P308S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P328S	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	374					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AACCAGAATGGGAGCCGGTGT	0.463																																						dbGAP											0													48.0	49.0	49.0					1																	155631112		2202	4281	6483	-	-	-	SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1120C>T	1.37:g.155631112G>A	ENSP00000295566:p.Pro374Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.P466S	ENST00000295566.4	37	c.1396	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	g	16.71	3.198005	0.58126	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763	T;T;T;T;T;T;T;T;T;T;T;T	0.76709	0.2;0.19;-0.96;0.19;0.2;-1.01;-0.94;0.19;-0.96;-0.98;0.13;-1.04	2.71	2.71	0.32032	.	0.070691	0.56097	D	0.000025	D	0.83055	0.5171	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.981;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.999;0.999;0.954;0.999;0.999	D	0.84098	0.0394	10	0.48119	T	0.1	.	13.4828	0.61345	0.0:0.0:1.0:0.0	.	394;466;308;466;374;328;446	B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	S	317;328;297;328;317;446;374;328;297;308;466;174;466	ENSP00000352134:P317S;ENSP00000347686:P328S;ENSP00000311138:P297S;ENSP00000316079:P328S;ENSP00000355298:P317S;ENSP00000357324:P446S;ENSP00000295566:P374S;ENSP00000357314:P328S;ENSP00000385791:P297S;ENSP00000385390:P308S;ENSP00000357323:P466S;ENSP00000437926:P174S	ENSP00000295566:P374S	P	-	1	0	YY1AP1	153897736	1.000000	0.71417	0.914000	0.36105	0.896000	0.52359	6.169000	0.71913	1.529000	0.49120	0.306000	0.20318	CCA	YY1AP1	-	NULL	ENSG00000163374		0.463	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	166	0.00	0	G	NM_139118		155631112	155631112	-1	no_errors	ENST00000368339	ensembl	human	known	69_37n	missense	201	22.09	57	SNP	0.996	A
ZBTB33	10009	genome.wustl.edu	37	X	119388224	119388224	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:119388224T>C	ENST00000326624.2	+	2	1182	c.954T>C	c.(952-954)agT>agC	p.S318S	ZBTB33_ENST00000557385.1_Silent_p.S318S	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	318					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)	p.S318S(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACCAAACAGTGCTATTTTAA	0.423																																						dbGAP											1	Substitution - coding silent(1)	pancreas(1)											116.0	102.0	107.0					X																	119388224		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.954T>C	X.37:g.119388224T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	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.S318	ENST00000326624.2	37	c.954	CCDS14596.1	X																																																																																			ZBTB33	-	NULL	ENSG00000177485		0.423	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	51	0.00	0	T	NM_006777		119388224	119388224	+1	no_errors	ENST00000326624	ensembl	human	known	69_37n	silent	64	32.63	31	SNP	0.925	C
ZBTB4	57659	genome.wustl.edu	37	17	7370110	7370110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:7370110delG	ENST00000311403.4	-	3	350	c.11delC	c.(10-12)cctfs	p.P4fs	ZBTB4_ENST00000380599.4_Frame_Shift_Del_p.P4fs	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	4					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)	p.A5fs*18(2)		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)		CACCTCTGCAGGGGGGGGCAT	0.647																																						dbGAP											2	Insertion - Frameshift(2)	ovary(2)							,	56,76,4022		1,0,54,4,68,1950	7.0	7.0	7.0		,	1.4	1.0	17		7	93,153,7898		1,0,91,4,145,3831	no	codingComplex,codingComplex	ZBTB4	NM_020899.3,NM_001128833.1	,	2,0,145,8,213,5781	A1A1,A1A2,A1R,A2A2,A2R,RR		3.0206,3.1777,3.0737	,	,	7370110	149,229,11920	2180	4274	6454	-	-	-	SO:0001589	frameshift_variant	0			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.11delC	17.37:g.7370110delG	ENSP00000307858:p.Pro4fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P4fs	ENST00000311403.4	37	c.11	CCDS11107.1	17																																																																																			ZBTB4	-	superfamily_BTB/POZ_fold	ENSG00000174282		0.647	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	14	0.00	0	G	NM_020899		7370110	7370110	-1	no_errors	ENST00000311403	ensembl	human	known	69_37n	frame_shift_del	7	50.00	7	DEL	1.000	-
ZC3H11A	9877	genome.wustl.edu	37	1	203786220	203786220	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:203786220T>C	ENST00000545588.1	+	2	3849	c.22T>C	c.(22-24)Tgc>Cgc	p.C8R	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.C8R|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.C8R|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.C8R|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.C8R	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	8					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGAAGACTGCTATTTTTT	0.378																																						dbGAP											0													94.0	94.0	94.0					1																	203786220		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.22T>C	1.37:g.203786220T>C	ENSP00000438527:p.Cys8Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.C8R	ENST00000545588.1	37	c.22	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108013	0.77096	.	.	ENSG00000058673	ENST00000432282;ENST00000453771;ENST00000367214;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;D;D;D;D;D	0.92299	-0.69;-3.01;-3.01;-3.01;-3.01;-3.01	5.64	5.64	0.86602	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96814	0.9599	10	0.87932	D	0	-14.7845	12.2471	0.54576	0.0:0.0:0.0:1.0	.	8	O75152	ZC11A_HUMAN	R	8	ENSP00000406531:C8R;ENSP00000356183:C8R;ENSP00000356181:C8R;ENSP00000333253:C8R;ENSP00000438527:C8R;ENSP00000356179:C8R	ENSP00000333253:C8R	C	+	1	0	ZC3H11A	202052843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.142000	0.77339	2.148000	0.66965	0.533000	0.62120	TGC	ZC3H11A	-	smart_Znf_CCCH	ENSG00000058673		0.378	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	75	0.00	0	T	NM_014827		203786220	203786220	+1	no_errors	ENST00000332127	ensembl	human	known	69_37n	missense	123	25.45	42	SNP	1.000	C
ZC3HAV1	56829	genome.wustl.edu	37	7	138774443	138774443	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:138774443T>G	ENST00000242351.5	-	2	687	c.371A>C	c.(370-372)cAc>cCc	p.H124P	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.H124P|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.H124P	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	124	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AGAGAGTTCGTGATTTTTCAG	0.398																																						dbGAP											0													120.0	108.0	112.0					7																	138774443		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.371A>C	7.37:g.138774443T>G	ENSP00000242351:p.His124Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.H124P	ENST00000242351.5	37	c.371	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476062	0.26511	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.44482	0.92;0.92;0.92	4.21	4.21	0.49690	.	0.000000	0.47093	D	0.000253	T	0.62109	0.2401	M	0.79258	2.445	0.18873	N	0.999988	D;D	0.89917	0.999;1.0	D;D	0.85130	0.974;0.997	T	0.54964	-0.8214	10	0.87932	D	0	.	9.8581	0.41098	0.0:0.0:0.0:1.0	.	124;124	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	P	124	ENSP00000242351:H124P;ENSP00000418385:H124P;ENSP00000419855:H124P	ENSP00000242351:H124P	H	-	2	0	ZC3HAV1	138424983	0.989000	0.36119	0.082000	0.20525	0.050000	0.14768	4.199000	0.58426	1.895000	0.54865	0.528000	0.53228	CAC	ZC3HAV1	-	NULL	ENSG00000105939		0.398	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	106	0.00	0	T	NM_020119		138774443	138774443	-1	no_errors	ENST00000242351	ensembl	human	known	69_37n	missense	172	14.43	29	SNP	0.075	G
ZCCHC2	54877	genome.wustl.edu	37	18	60241727	60241727	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr18:60241727A>G	ENST00000269499.5	+	13	2831	c.2413A>G	c.(2413-2415)Act>Gct	p.T805A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T484A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	805						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACACAGTAGTACTCCCGCTTT	0.493																																						dbGAP											0													110.0	108.0	109.0					18																	60241727		2052	4208	6260	-	-	-	SO:0001583	missense	0			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2413A>G	18.37:g.60241727A>G	ENSP00000269499:p.Thr805Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.T805A	ENST00000269499.5	37	c.2413	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	A	1.304	-0.604181	0.03717	.	.	ENSG00000141664	ENST00000269499	T	0.21031	2.03	5.81	-8.37	0.00976	.	0.931308	0.09186	N	0.836690	T	0.07188	0.0182	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44757	-0.9307	10	0.05721	T	0.95	-0.0037	16.3011	0.82816	0.4435:0.0:0.5565:0.0	.	805	Q9C0B9	ZCHC2_HUMAN	A	805	ENSP00000269499:T805A	ENSP00000269499:T805A	T	+	1	0	ZCCHC2	58392707	0.001000	0.12720	0.000000	0.03702	0.230000	0.25150	-0.072000	0.11486	-2.126000	0.00820	-0.994000	0.02522	ACT	ZCCHC2	-	NULL	ENSG00000141664		0.493	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	102	0.00	0	A	NM_017742		60241727	60241727	+1	no_errors	ENST00000269499	ensembl	human	known	69_37n	missense	115	29.27	48	SNP	0.000	G
ZCCHC8	55596	genome.wustl.edu	37	12	122966592	122966592	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:122966592T>C	ENST00000336229.4	-	9	905	c.775A>G	c.(775-777)Atg>Gtg	p.M259V	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.M21V|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.M21V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	259					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CAGGCATCCATATACTCTTTT	0.388																																						dbGAP											0													122.0	111.0	114.0					12																	122966592		1869	4105	5974	-	-	-	SO:0001583	missense	0			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.775A>G	12.37:g.122966592T>C	ENSP00000337313:p.Met259Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.M259V	ENST00000336229.4	37	c.775		12	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043009	0.36085	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663;ENST00000540586	T;T;T	0.44881	0.92;0.92;0.91	5.66	-3.33	0.04958	Zinc finger, CCHC retroviral-type (1);	0.428033	0.31566	N	0.007428	T	0.22044	0.0531	N	0.19112	0.55	0.23070	N	0.998344	B	0.24483	0.104	B	0.25140	0.058	T	0.08411	-1.0723	10	0.41790	T	0.15	-5.8014	7.9261	0.29876	0.3869:0.0:0.3004:0.3127	.	259	Q6NZY4	ZCHC8_HUMAN	V	21;21;259;21;21;21	ENSP00000441423:M21V;ENSP00000438993:M21V;ENSP00000337313:M259V	ENSP00000337313:M259V	M	-	1	0	ZCCHC8	121532545	0.993000	0.37304	0.238000	0.24106	0.985000	0.73830	0.701000	0.25616	-0.884000	0.03976	0.374000	0.22700	ATG	ZCCHC8	-	NULL	ENSG00000033030		0.388	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		94	0.00	0	T	NM_017612		122966592	122966592	-1	no_errors	ENST00000336229	ensembl	human	known	69_37n	missense	65	49.22	63	SNP	0.466	C
ZCWPW1	55063	genome.wustl.edu	37	7	99998783	99998783	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:99998783T>C	ENST00000398027.2	-	18	2048	c.1801A>G	c.(1801-1803)Agt>Ggt	p.S601G	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.S430G|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.S430G	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	601							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGGACACTTCCAGCCTCC	0.617																																						dbGAP											0													48.0	50.0	49.0					7																	99998783		1952	4145	6097	-	-	-	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1801A>G	7.37:g.99998783T>C	ENSP00000381109:p.Ser601Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.S601G	ENST00000398027.2	37	c.1801	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.820|9.820	1.185466|1.185466	0.21870|0.21870	.|.	.|.	ENSG00000233389|ENSG00000078487	ENST00000449355|ENST00000398027;ENST00000490721;ENST00000324725	.|T;T;T	.|0.57273	.|0.68;0.41;0.41	4.69|4.69	-0.377|-0.377	0.12501|0.12501	.|.	.|.	.|.	.|.	.|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.35433	.|0.501;0.501;0.0	.|B;B;B	.|0.25140	.|0.058;0.058;0.002	T|T	0.09079|0.09079	-1.0691|-1.0691	5|8	.|.	.|.	.|.	0.8774|0.8774	5.4283|5.4283	0.16438|0.16438	0.0:0.1645:0.2791:0.5564|0.0:0.1645:0.2791:0.5564	.|.	.|562;601;430	.|B4DXS7;Q9H0M4;Q9H0M4-4	.|.;ZCPW1_HUMAN;.	P|G	18|601;430;430	.|ENSP00000381109:S601G;ENSP00000419187:S430G;ENSP00000314880:S430G	.|.	L|S	+|-	2|1	0|0	AC005071.3|ZCWPW1	99836719|99836719	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.029000|0.029000	0.11900|0.11900	0.002000|0.002000	0.13061|0.13061	-0.298000|-0.298000	0.08921|0.08921	-1.255000|-1.255000	0.01485|0.01485	CTT|AGT	ZCWPW1	-	NULL	ENSG00000078487		0.617	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	43	0.00	0	T	NM_017984		99998783	99998783	-1	no_errors	ENST00000398027	ensembl	human	known	69_37n	missense	100	18.03	22	SNP	0.000	C
ZDHHC13	54503	genome.wustl.edu	37	11	19197491	19197491	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr11:19197491T>C	ENST00000446113.2	+	17	1974	c.1853T>C	c.(1852-1854)gTt>gCt	p.V618A	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.V488A	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	618					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGGGAGAAGGTTCTTCGCTCA	0.433																																						dbGAP											0													143.0	137.0	139.0					11																	19197491		1856	4110	5966	-	-	-	SO:0001583	missense	0			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1853T>C	11.37:g.19197491T>C	ENSP00000400113:p.Val618Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.V618A	ENST00000446113.2	37	c.1853	CCDS44550.1	11	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587012	0.46110	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.34472	1.36;2.1	5.7	5.7	0.88788	.	0.707610	0.14811	N	0.297027	T	0.31167	0.0788	L	0.51422	1.61	0.28412	N	0.918155	P	0.43788	0.817	B	0.36959	0.237	T	0.36578	-0.9742	10	0.52906	T	0.07	-6.2705	9.2779	0.37711	0.1605:0.0:0.0:0.8395	.	618	Q8IUH4	ZDH13_HUMAN	A	618;488	ENSP00000400113:V618A;ENSP00000382288:V488A	ENSP00000382288:V488A	V	+	2	0	ZDHHC13	19154067	0.989000	0.36119	1.000000	0.80357	0.929000	0.56500	2.015000	0.40961	2.175000	0.68902	0.383000	0.25322	GTT	ZDHHC13	-	NULL	ENSG00000177054		0.433	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	99	0.00	0	T	NM_019028		19197491	19197491	+1	no_errors	ENST00000446113	ensembl	human	known	69_37n	missense	111	31.10	51	SNP	1.000	C
ZDHHC15	158866	genome.wustl.edu	37	X	74644504	74644504	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:74644504C>T	ENST00000373367.3	-	8	949	c.719G>A	c.(718-720)aGa>aAa	p.R240K	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.R231K	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	240					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|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)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGTTTTGTTTCTGCTGACAAG	0.378																																						dbGAP											0													84.0	67.0	73.0					X																	74644504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.719G>A	X.37:g.74644504C>T	ENSP00000362465:p.Arg240Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.R240K	ENST00000373367.3	37	c.719	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	C	6.625	0.483770	0.12581	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.24151	1.87;1.87	5.88	5.88	0.94601	.	0.093363	0.85682	D	0.000000	T	0.09642	0.0237	N	0.02539	-0.55	0.80722	D	1	B;B	0.15930	0.002;0.015	B;B	0.14023	0.01;0.006	T	0.16512	-1.0400	10	0.02654	T	1	-21.4163	13.0174	0.58766	0.1606:0.8394:0.0:0.0	.	231;240	B3KVG7;Q96MV8	.;ZDH15_HUMAN	K	240;231	ENSP00000362465:R240K;ENSP00000445420:R231K	ENSP00000362465:R240K	R	-	2	0	ZDHHC15	74561229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.732000	0.47352	2.471000	0.83476	0.600000	0.82982	AGA	ZDHHC15	-	NULL	ENSG00000102383		0.378	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	112	0.00	0	C	NM_144969		74644504	74644504	-1	no_errors	ENST00000373367	ensembl	human	known	69_37n	missense	96	20.00	24	SNP	1.000	T
ZFAT	57623	genome.wustl.edu	37	8	135614769	135614769	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:135614769C>T	ENST00000377838.3	-	6	1367	c.1193G>A	c.(1192-1194)gGc>gAc	p.G398D	ZFAT_ENST00000429442.2_Missense_Mutation_p.G386D|ZFAT_ENST00000520214.1_Missense_Mutation_p.G386D|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Missense_Mutation_p.G386D|ZFAT_ENST00000520727.1_Missense_Mutation_p.G386D|ZFAT_ENST00000523399.1_Missense_Mutation_p.G336D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	398					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGCCGCTTGCCCTCCCTCGT	0.577																																						dbGAP											0													54.0	57.0	56.0					8																	135614769		2086	4216	6302	-	-	-	SO:0001583	missense	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1193G>A	8.37:g.135614769C>T	ENSP00000367069:p.Gly398Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G398D	ENST00000377838.3	37	c.1193	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959573	0.92791	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.10960	2.89;2.84;2.83;2.82;2.84;2.89	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.24084	0.0583	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.01078	-1.1459	10	0.87932	D	0	-30.6779	18.9218	0.92528	0.0:1.0:0.0:0.0	.	336;386;386;398	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	D	386;386;386;398;386;386;336;386	ENSP00000427879:G386D;ENSP00000427831:G386D;ENSP00000394501:G386D;ENSP00000367069:G398D;ENSP00000428483:G386D;ENSP00000429091:G336D	ENSP00000326997:G386D	G	-	2	0	ZFAT	135683951	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.619000	0.83057	2.717000	0.92951	0.563000	0.77884	GGC	ZFAT	-	NULL	ENSG00000066827		0.577	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	23	0.00	0	C	NM_001029939		135614769	135614769	-1	no_errors	ENST00000377838	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	1.000	T
ZFC3H1	196441	genome.wustl.edu	37	12	72030786	72030786	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:72030786T>C	ENST00000378743.3	-	8	2137	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	593	Pro-rich.				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						GAGGTAGAGGTTCAAGAGAAA	0.433																																						dbGAP											0													114.0	114.0	114.0					12																	72030786		1900	4134	6034	-	-	-	SO:0001819	synonymous_variant	0			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.1779A>G	12.37:g.72030786T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.E593	ENST00000378743.3	37	c.1779	CCDS41813.1	12																																																																																			ZFC3H1	-	NULL	ENSG00000133858		0.433	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	98	0.00	0	T	NM_144982		72030786	72030786	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	silent	123	13.91	21	SNP	0.825	C
ZFHX4	79776	genome.wustl.edu	37	8	77764386	77764386	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:77764386A>G	ENST00000521891.2	+	10	5677	c.5229A>G	c.(5227-5229)atA>atG	p.I1743M	ZFHX4_ENST00000455469.2_Missense_Mutation_p.I1698M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I1717M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I1698M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1698	Gln-rich.				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)			CATTTTATATACCTGGGACGG	0.512										HNSCC(33;0.089)																												dbGAP											0													60.0	57.0	58.0					8																	77764386		2039	4221	6260	-	-	-	SO:0001583	missense	0				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.5229A>G	8.37:g.77764386A>G	ENSP00000430497:p.Ile1743Met	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	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.I1743M	ENST00000521891.2	37	c.5229	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	9.248	1.039987	0.19669	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57595	0.39;0.45;0.41;0.41	4.48	-1.07	0.09968	.	0.000000	0.47852	U	0.000208	T	0.62307	0.2417	M	0.68593	2.085	0.50313	D	0.999867	D;D;D	0.69078	0.995;0.997;0.997	P;D;D	0.65010	0.854;0.931;0.931	T	0.63028	-0.6728	10	0.66056	D	0.02	.	9.515	0.39100	0.5405:0.3637:0.0:0.0958	.	1698;1698;1743	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	1743;1743;1698;1698;1717	ENSP00000430497:I1743M;ENSP00000399605:I1698M;ENSP00000050961:I1698M;ENSP00000430848:I1717M	ENSP00000050961:I1698M	I	+	3	3	ZFHX4	77926941	0.944000	0.32072	0.999000	0.59377	0.985000	0.73830	0.090000	0.15025	0.034000	0.15491	-0.338000	0.08134	ATA	ZFHX4	-	NULL	ENSG00000091656		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	94	0.00	0	A	NM_024721		77764386	77764386	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	94	37.09	56	SNP	0.976	G
ZNF106	64397	genome.wustl.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	482					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCCAGGGGAAAAAAAATTT	0.393																																						dbGAP											0													208.0	205.0	206.0					15																	42742957		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1444delT	15.37:g.42742957delA	ENSP00000263805:p.Ser482fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S482fs	ENST00000263805.4	37	c.1444	CCDS32208.1	15																																																																																			ZFP106	-	NULL	ENSG00000103994		0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	165	0.00	0	A	NM_022473		42742957	42742957	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	frame_shift_del	179	22.36	53	DEL	0.139	-
ZFP36	7538	genome.wustl.edu	37	19	39898539	39898539	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:39898539C>A	ENST00000248673.3	+	2	239	c.181C>A	c.(181-183)Cta>Ata	p.L61I	ZFP36_ENST00000597629.1_Missense_Mutation_p.L67I|ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	61					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCACCAGCCTAGTGGAGGG	0.741																																					NSCLC(67;1164 1324 12056 21056 30097)	dbGAP											0													16.0	20.0	19.0					19																	39898539		2098	4157	6255	-	-	-	SO:0001583	missense	0			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.181C>A	19.37:g.39898539C>A	ENSP00000248673:p.Leu61Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.L61I	ENST00000248673.3	37	c.181		19	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004851	0.54254	.	.	ENSG00000128016	ENST00000248673	T	0.19806	2.12	3.91	1.68	0.24146	.	0.321123	0.27710	N	0.018174	T	0.14056	0.0340	L	0.27053	0.805	0.31328	N	0.685187	P	0.47762	0.9	B	0.42112	0.376	T	0.11155	-1.0599	10	0.66056	D	0.02	-4.3298	8.2551	0.31751	0.0:0.7882:0.0:0.2118	.	61	P26651	TTP_HUMAN	I	61	ENSP00000248673:L61I	ENSP00000248673:L61I	L	+	1	2	ZFP36	44590379	0.988000	0.35896	1.000000	0.80357	0.406000	0.30931	0.330000	0.19715	0.865000	0.35603	-0.275000	0.10095	CTA	ZFP36	-	NULL	ENSG00000128016		0.741	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		9	0.00	0	C			39898539	39898539	+1	no_errors	ENST00000248673	ensembl	human	known	69_37n	missense	3	70.00	7	SNP	1.000	A
ZFP64	55734	genome.wustl.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 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)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						dbGAP											0									,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				-	-	-	SO:0001589	frameshift_variant	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q553fs	ENST00000216923.4	37	c.1656_1655	CCDS13440.1	20																																																																																			ZFP64	-	NULL	ENSG00000020256		0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	17	0.00	0	-	NM_018197		50769075	50769076	-1	no_errors	ENST00000216923	ensembl	human	known	69_37n	frame_shift_ins	27	20.59	7	INS	0.000:0.000	G
ZFYVE20	64145	genome.wustl.edu	37	3	15137516	15137516	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:15137516A>C	ENST00000253699.3	-	4	725	c.112T>G	c.(112-114)Tca>Gca	p.S38A	ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.S38A|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.S38A|ZFYVE20_ENST00000449050.1_Missense_Mutation_p.S38A	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	38					blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCTTCCCCTGAGTGTTCTTCC	0.522																																						dbGAP											0													202.0	192.0	196.0					3																	15137516		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.112T>G	3.37:g.15137516A>C	ENSP00000253699:p.Ser38Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.S38A	ENST00000253699.3	37	c.112	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	A	8.696	0.908662	0.17833	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849;ENST00000449050;ENST00000507357	T;T;T	0.72282	0.59;0.59;-0.64	5.43	5.43	0.79202	Zinc finger, C2H2 (1);	0.328022	0.33217	N	0.005156	T	0.55321	0.1913	N	0.16708	0.43	0.34475	D	0.703265	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.61262	-0.7098	10	0.36615	T	0.2	-1.6653	13.7238	0.62745	1.0:0.0:0.0:0.0	.	38;38	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	A	38	ENSP00000253699:S38A;ENSP00000422551:S38A;ENSP00000391039:S38A	ENSP00000253699:S38A	S	-	1	0	ZFYVE20	15112520	1.000000	0.71417	0.842000	0.33263	0.031000	0.12232	4.242000	0.58714	2.073000	0.62155	0.454000	0.30748	TCA	ZFYVE20	-	pfscan_Znf_C2H2	ENSG00000131381		0.522	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	203	0.49	1	A	NM_022340		15137516	15137516	-1	no_errors	ENST00000253699	ensembl	human	known	69_37n	missense	236	27.61	90	SNP	0.998	C
ZFYVE28	57732	genome.wustl.edu	37	4	2306048	2306048	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr4:2306048A>G	ENST00000290974.2	-	8	2358	c.2019T>C	c.(2017-2019)gcT>gcC	p.A673A	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.A603A|ZFYVE28_ENST00000511071.1_Silent_p.A643A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	673					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCGCCTCGTGAGCCGAGGGGC	0.662																																						dbGAP											0													36.0	42.0	40.0					4																	2306048		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2019T>C	4.37:g.2306048A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.A673	ENST00000290974.2	37	c.2019	CCDS33942.1	4																																																																																			ZFYVE28	-	NULL	ENSG00000159733		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	19	0.00	0	A	XM_035371		2306048	2306048	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	silent	3	66.67	6	SNP	0.001	G
ZMPSTE24	10269	genome.wustl.edu	37	1	40735712	40735712	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:40735712T>C	ENST00000372759.3	+	5	705	c.540T>C	c.(538-540)ccT>ccC	p.P180P		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	180					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTTTGTTGCCTGTGTCTTCAC	0.348																																						dbGAP											0													195.0	203.0	200.0					1																	40735712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.540T>C	1.37:g.40735712T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	pfam_Peptidase_M48	p.P180	ENST00000372759.3	37	c.540	CCDS449.1	1																																																																																			ZMPSTE24	-	NULL	ENSG00000084073		0.348	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1	190	0.00	0	T			40735712	40735712	+1	no_errors	ENST00000372759	ensembl	human	known	69_37n	silent	251	22.70	74	SNP	0.999	C
ZNF117	51351	genome.wustl.edu	37	7	64439557	64439557	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr7:64439557T>C	ENST00000282869.6	-	4	1676	c.392A>G	c.(391-393)cAa>cGa	p.Q131R		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	131				Q -> H (in Ref. 1; AAG41761 and 4; AAA58666). {ECO:0000305}.	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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CACTCTAGTTTGGATTCTTTT	0.328																																						dbGAP											0													65.0	65.0	65.0					7																	64439557		2106	4246	6352	-	-	-	SO:0001583	missense	0			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.392A>G	7.37:g.64439557T>C	ENSP00000282869:p.Gln131Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02313|Q7Z7Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q131R	ENST00000282869.6	37	c.392	CCDS43593.1	7	.	.	.	.	.	.	.	.	.	.	.	8.366	0.834325	0.16820	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.14893	2.47	1.3	-0.193	0.13244	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11750	0.0286	N	0.25332	0.735	0.09310	N	1	B	0.19935	0.04	B	0.27500	0.08	T	0.34825	-0.9813	9	0.87932	D	0	.	5.2437	0.15485	0.0:0.0:0.2973:0.7027	.	131	Q03924	ZN117_HUMAN	R	131	ENSP00000282869:Q131R	ENSP00000282869:Q131R	Q	-	2	0	ZNF117	64076992	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.286000	0.09076	-0.940000	0.02684	CAA	ZNF117	-	pfscan_Znf_C2H2	ENSG00000152926		0.328	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3	103	0.00	0	T	NM_024498		64439557	64439557	-1	no_errors	ENST00000282869	ensembl	human	known	69_37n	missense	154	23.00	46	SNP	0.023	C
ZKSCAN7	55888	genome.wustl.edu	37	3	44612841	44612841	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:44612841T>C	ENST00000273320.3	+	6	2668	c.2239T>C	c.(2239-2241)Tca>Cca	p.S747P	RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.S747P	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	747					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)										AGAGAAGTCCTCAGGTCTGGC	0.458																																						dbGAP											0													87.0	88.0	87.0					3																	44612841		2203	4300	6503	-	-	-	SO:0001583	missense	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2239T>C	3.37:g.44612841T>C	ENSP00000273320:p.Ser747Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	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.S747P	ENST00000273320.3	37	c.2239	CCDS2715.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.65|17.65	3.442805|3.442805	0.63067|0.63067	.|.	.|.	ENSG00000196345|ENSG00000196345	ENST00000315777|ENST00000426540;ENST00000273320	.|T;T	.|0.06068	.|3.35;3.35	3.76|3.76	2.57|2.57	0.30868|0.30868	.|.	.|.	.|.	.|.	.|.	T|T	0.04452|0.04452	0.0122|0.0122	N|N	0.13098|0.13098	0.295|0.295	0.22954|0.22954	N|N	0.998517|0.998517	.|P	.|0.45348	.|0.856	.|B	.|0.40444	.|0.329	T|T	0.38672|0.38672	-0.9650|-0.9650	5|9	.|0.72032	.|D	.|0.01	-3.3408|-3.3408	8.2776|8.2776	0.31881|0.31881	0.0:0.0:0.2018:0.7982|0.0:0.0:0.2018:0.7982	.|.	.|747	.|Q9P0L1	.|ZN167_HUMAN	P|P	184|747	.|ENSP00000395524:S747P;ENSP00000273320:S747P	.|ENSP00000273320:S747P	L|S	+|+	2|1	0|0	ZNF167|ZNF167	44587845|44587845	0.025000|0.025000	0.19082|0.19082	0.147000|0.147000	0.22382|0.22382	0.786000|0.786000	0.44442|0.44442	1.878000|1.878000	0.39608|0.39608	0.617000|0.617000	0.30160|0.30160	0.533000|0.533000	0.62120|0.62120	CTC|TCA	ZNF167	-	NULL	ENSG00000196345		0.458	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF167	HGNC	protein_coding	OTTHUMT00000256752.4	80	0.00	0	T	NM_018651		44612841	44612841	+1	no_errors	ENST00000273320	ensembl	human	known	69_37n	missense	56	42.86	42	SNP	0.023	C
ZNF175	7728	genome.wustl.edu	37	19	52090234	52090234	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:52090234G>A	ENST00000262259.2	+	5	1008	c.650G>A	c.(649-651)aGc>aAc	p.S217N	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	217					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CAGAATGAAAGCAATGACACA	0.443																																						dbGAP											0													83.0	76.0	78.0					19																	52090234		2203	4299	6502	-	-	-	SO:0001583	missense	0			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.650G>A	19.37:g.52090234G>A	ENSP00000262259:p.Ser217Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H2	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.S217N	ENST00000262259.2	37	c.650	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	G	5.807	0.333260	0.11013	.	.	ENSG00000105497	ENST00000262259	T	0.07908	3.15	2.73	-2.17	0.07059	.	.	.	.	.	T	0.02494	0.0076	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47433	-0.9118	9	0.19147	T	0.46	.	5.5935	0.17313	0.2324:0.0:0.6058:0.1618	.	217	Q9Y473	ZN175_HUMAN	N	217	ENSP00000262259:S217N	ENSP00000262259:S217N	S	+	2	0	ZNF175	56782046	.	.	0.005000	0.12908	0.001000	0.01503	.	.	-0.228000	0.09869	-0.940000	0.02684	AGC	ZNF175	-	NULL	ENSG00000105497		0.443	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	51	0.00	0	G	NM_007147		52090234	52090234	+1	no_errors	ENST00000262259	ensembl	human	known	69_37n	missense	59	26.25	21	SNP	0.006	A
ZNF185	7739	genome.wustl.edu	37	X	152083321	152083321	+	Silent	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chrX:152083321G>A	ENST00000370268.4	+	2	139	c.102G>A	c.(100-102)acG>acA	p.T34T	ZNF185_ENST00000370270.2_Silent_p.T34T|ZNF185_ENST00000449285.2_Silent_p.T34T|ZNF185_ENST00000324823.6_De_novo_Start_InFrame|ZNF185_ENST00000318504.7_Silent_p.T34T|ZNF185_ENST00000535861.1_Silent_p.T34T|ZNF185_ENST00000539731.1_Silent_p.T34T			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	34						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TGCGAACCACGCTGAAGGGGG	0.602																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.102G>A	X.37:g.152083321G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.T34	ENST00000370268.4	37	c.102	CCDS48184.1	X																																																																																			ZNF185	-	NULL	ENSG00000147394		0.602	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	32	0.00	0	G	NM_007150		152083321	152083321	+1	no_errors	ENST00000535861	ensembl	human	known	69_37n	silent	44	39.73	29	SNP	0.842	A
ZNF217	7764	genome.wustl.edu	37	20	52198048	52198048	+	Missense_Mutation	SNP	C	C	A	rs368687800		TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr20:52198048C>A	ENST00000371471.2	-	2	1743	c.1318G>T	c.(1318-1320)Ggt>Tgt	p.G440C	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.G440C			O75362	ZN217_HUMAN	zinc finger protein 217	440					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCTTCAGAACCACCTTCCCCT	0.617																																						dbGAP											0													66.0	62.0	64.0					20																	52198048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1318G>T	20.37:g.52198048C>A	ENSP00000360526:p.Gly440Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G440C	ENST00000371471.2	37	c.1318	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837948	0.71373	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.11385	2.78;2.78	5.7	5.7	0.88788	.	0.188405	0.45126	D	0.000386	T	0.29491	0.0735	L	0.60455	1.87	0.47476	D	0.999437	D	0.89917	1.0	D	0.71184	0.972	T	0.00162	-1.1970	10	0.33940	T	0.23	-27.0494	17.6057	0.88036	0.0:1.0:0.0:0.0	.	440	O75362	ZN217_HUMAN	C	440	ENSP00000360526:G440C;ENSP00000304308:G440C	ENSP00000304308:G440C	G	-	1	0	ZNF217	51631455	0.996000	0.38824	0.651000	0.29564	0.933000	0.57130	4.062000	0.57492	2.686000	0.91538	0.591000	0.81541	GGT	ZNF217	-	NULL	ENSG00000171940		0.617	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	35	0.00	0	C	NM_006526		52198048	52198048	-1	no_errors	ENST00000302342	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.996	A
ZNF232	7775	genome.wustl.edu	37	17	5013061	5013061	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr17:5013061A>G	ENST00000250076.3	-	3	780	c.126T>C	c.(124-126)ggT>ggC	p.G42G	ZNF232_ENST00000575898.1_Silent_p.G42G|AC012146.7_ENST00000413077.1_RNA|ZNF232_ENST00000416429.2_Silent_p.G15G|AC012146.7_ENST00000571138.1_RNA|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	15					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GTCCCTGTGTACCCTGAAGGG	0.512																																						dbGAP											0													159.0	148.0	151.0					17																	5013061		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.126T>C	17.37:g.5013061A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.G42	ENST00000250076.3	37	c.126	CCDS11068.1	17																																																																																			ZNF232	-	NULL	ENSG00000167840		0.512	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF232	HGNC	protein_coding	OTTHUMT00000216915.1	156	0.00	0	A	NM_014519		5013061	5013061	-1	no_errors	ENST00000250076	ensembl	human	known	69_37n	silent	89	36.17	51	SNP	0.001	G
ZNF235	9310	genome.wustl.edu	37	19	44792421	44792421	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:44792421A>G	ENST00000291182.4	-	5	1269	c.1167T>C	c.(1165-1167)gaT>gaC	p.D389D	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	389					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)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAATGTTAAGATCTGTGCTAC	0.443																																						dbGAP											0													99.0	87.0	91.0					19																	44792421		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1167T>C	19.37:g.44792421A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ7|O14898|O14899|Q17RR8	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.D389	ENST00000291182.4	37	c.1167	CCDS33048.1	19																																																																																			ZNF235	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159917		0.443	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF235	HGNC	protein_coding	OTTHUMT00000460732.1	85	0.00	0	A			44792421	44792421	-1	no_errors	ENST00000291182	ensembl	human	known	69_37n	silent	116	30.95	52	SNP	0.068	G
ZNF34	80778	genome.wustl.edu	37	8	145999963	145999963	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr8:145999963T>C	ENST00000343459.4	-	6	436	c.371A>G	c.(370-372)gAg>gGg	p.E124G	ZNF34_ENST00000429371.2_Missense_Mutation_p.E103G			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	124					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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TGAAGTCAACTCCTTGTACTC	0.507																																						dbGAP											0													108.0	107.0	107.0					8																	145999963		1947	4163	6110	-	-	-	SO:0001583	missense	0			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.371A>G	8.37:g.145999963T>C	ENSP00000341528:p.Glu124Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWN1|Q9BSZ0	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.E124G	ENST00000343459.4	37	c.371	CCDS47945.1	8	.	.	.	.	.	.	.	.	.	.	T	9.744	1.165767	0.21538	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371;ENST00000534337;ENST00000534445	T;T;T;T	0.08720	3.06;3.06;3.22;4.86	3.38	2.18	0.27775	.	.	.	.	.	T	0.04634	0.0126	N	0.17082	0.46	0.09310	N	1	P;P	0.44877	0.845;0.845	B;B	0.38655	0.22;0.278	T	0.38802	-0.9644	9	0.28530	T	0.3	.	6.0469	0.19766	0.423:0.0:0.0:0.577	.	83;124	E7EN25;Q8IZ26	.;ZNF34_HUMAN	G	83;53;124;103;63;84	ENSP00000341528:E124G;ENSP00000396894:E103G;ENSP00000434049:E63G;ENSP00000437056:E84G	ENSP00000341528:E124G	E	-	2	0	ZNF34	145970767	0.000000	0.05858	0.001000	0.08648	0.201000	0.24016	0.002000	0.13061	0.624000	0.30286	0.533000	0.62120	GAG	ZNF34	-	NULL	ENSG00000196378		0.507	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	36	0.00	0	T	NM_030580		145999963	145999963	-1	no_errors	ENST00000343459	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	0.000	C
ZNF429	353088	genome.wustl.edu	37	19	21720017	21720017	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:21720017delA	ENST00000358491.4	+	4	1370	c.1162delA	c.(1162-1164)aaafs	p.K389fs	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	389					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(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TACTCGACATAAAAAAATTCA	0.358																																						dbGAP											0													39.0	45.0	43.0					19																	21720017		2009	4210	6219	-	-	-	SO:0001589	frameshift_variant	0			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1162delA	19.37:g.21720017delA	ENSP00000351280:p.Lys389fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLV7|Q9BZE6	Frame_Shift_Del	DEL	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.I390fs	ENST00000358491.4	37	c.1162	CCDS42537.1	19																																																																																			ZNF429	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197013		0.358	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	34	0.00	0	A	NM_001001415		21720017	21720017	+1	no_errors	ENST00000358491	ensembl	human	known	69_37n	frame_shift_del	50	17.46	11	DEL	0.374	-
ZNF469	84627	genome.wustl.edu	37	16	88497459	88497459	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:88497459G>A	ENST00000437464.1	+	2	3497	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	ZNF469_ENST00000565624.1_Missense_Mutation_p.R1194H	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1166					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						TGTGCTGATCGCCCCTCAGTG	0.711																																						dbGAP											0													9.0	12.0	11.0					16																	88497459		690	1581	2271	-	-	-	SO:0001583	missense	0			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.3497G>A	16.37:g.88497459G>A	ENSP00000402343:p.Arg1166His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1166H	ENST00000437464.1	37	c.3497	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791275	0.31685	.	.	ENSG00000225614	ENST00000437464	T	0.06528	3.29	3.14	-4.31	0.03698	.	.	.	.	.	T	0.01940	0.0061	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46303	-0.9201	9	0.22109	T	0.4	.	0.5768	0.00705	0.448:0.18:0.1938:0.1782	.	1166	Q96JG9	ZN469_HUMAN	H	1166	ENSP00000402343:R1166H	ENSP00000402343:R1166H	R	+	2	0	ZNF469	87024960	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-0.914000	0.04038	-0.439000	0.07222	0.313000	0.20887	CGC	ZNF469	-	NULL	ENSG00000225614		0.711	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		8	0.00	0	G	NG_012236		88497459	88497459	+1	no_errors	ENST00000437464	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	0.000	A
ZNF493	284443	genome.wustl.edu	37	19	21607594	21607594	+	Silent	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:21607594A>G	ENST00000355504.4	+	2	2015	c.1749A>G	c.(1747-1749)aaA>aaG	p.K583K	ZNF493_ENST00000392288.2_Silent_p.K711K|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	583					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTGGAGAGAAACCTTGCAAAT	0.348																																						dbGAP											0													33.0	35.0	34.0					19																	21607594		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1749A>G	19.37:g.21607594A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K583	ENST00000355504.4	37	c.1749	CCDS12412.1	19																																																																																			ZNF493	-	pfscan_Znf_C2H2	ENSG00000196268		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	29	0.00	0	A	NM_175910		21607594	21607594	+1	no_errors	ENST00000355504	ensembl	human	known	69_37n	silent	26	29.73	11	SNP	1.000	G
ZNF573	126231	genome.wustl.edu	37	19	38283282	38283282	+	5'UTR	SNP	A	A	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:38283282A>C	ENST00000480587.2	-	0	648				CTD-2554C21.1_ENST00000591908.1_RNA|ZNF573_ENST00000392138.1_Intron			Q86YE8	ZN573_HUMAN	zinc finger protein 573						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)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ATTAATGCTGATAAGAATATC	0.458																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000480587.2:c.-73T>G	19.37:g.38283282A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	RNA	SNP	-	NULL	ENST00000480587.2	37	NULL		19																																																																																			ZNF573	-	-	ENSG00000189144		0.458	ZNF573-005	KNOWN	basic	processed_transcript	ZNF573	HGNC	protein_coding	OTTHUMT00000109616.2	62	0.00	0	A	NM_152360		38283282	38283282	-1	no_errors	ENST00000480587	ensembl	human	known	69_37n	rna	79	22.55	23	SNP	0.952	C
ZNF530	348327	genome.wustl.edu	37	19	58115681	58115681	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:58115681T>G	ENST00000332854.6	+	2	287	c.67T>G	c.(67-69)Ttc>Gtc	p.F23V	ZNF530_ENST00000597864.1_5'UTR	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCCATTTACTTCTCCCAGGA	0.512																																						dbGAP											0													250.0	209.0	223.0					19																	58115681		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.67T>G	19.37:g.58115681T>G	ENSP00000332861:p.Phe23Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O43340|Q9P220	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.F23V	ENST00000332854.6	37	c.67	CCDS12955.1	19	.	.	.	.	.	.	.	.	.	.	t	15.99	2.994915	0.54041	.	.	ENSG00000183647	ENST00000332854	T	0.14640	2.49	1.82	1.82	0.25136	Krueppel-associated box (4);	.	.	.	.	T	0.49423	0.1556	H	0.98951	4.38	0.26112	N	0.980666	D	0.56035	0.974	D	0.66351	0.943	T	0.42949	-0.9421	9	0.72032	D	0.01	.	7.6167	0.28163	0.0:0.0:0.0:1.0	.	23	Q6P9A1	ZN530_HUMAN	V	23	ENSP00000332861:F23V	ENSP00000332861:F23V	F	+	1	0	ZNF530	62807493	0.987000	0.35691	0.676000	0.29932	0.870000	0.49936	3.658000	0.54482	1.107000	0.41642	0.433000	0.28618	TTC	ZNF530	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000183647		0.512	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	193	0.00	0	T	NM_020880		58115681	58115681	+1	no_errors	ENST00000332854	ensembl	human	known	69_37n	missense	258	28.93	105	SNP	0.940	G
PI4KB	5298	genome.wustl.edu	37	1	151262327	151262328	+	IGR	INS	-	-	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:151262327_151262328insC	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Frame_Shift_Ins_p.P937fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			GCTCCCCTGAGCCCCCCCGTCC	0.649																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262334_151262334dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R938fs	ENST00000368873.1	37	c.2808_2809		1																																																																																			ZNF687	-	NULL	ENSG00000143373		0.649	PI4KB-002	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding	OTTHUMT00000034400.3	38	0.00	0	-	NM_002651		151262327	151262328	+1	no_errors	ENST00000324048	ensembl	human	known	69_37n	frame_shift_ins	41	14.58	7	INS	0.998:0.998	C
ZNF692	55657	genome.wustl.edu	37	1	249151665	249151665	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr1:249151665C>A	ENST00000306601.4	-	4	409	c.243G>T	c.(241-243)caG>caT	p.Q81H	ZNF692_ENST00000451251.1_Missense_Mutation_p.Q86H|ZNF692_ENST00000366469.5_Missense_Mutation_p.Q81H|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000427146.1_Missense_Mutation_p.Q81H|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.Q81H	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	81					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)			GCACCAGATACTGCAGACCTT	0.627																																						dbGAP											0													39.0	44.0	42.0					1																	249151665		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.243G>T	1.37:g.249151665C>A	ENSP00000305483:p.Gln81His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q86H	ENST00000306601.4	37	c.258	CCDS31127.1	1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632968	0.29068	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251;ENST00000496231	T;T;T;T;T	0.10763	2.86;2.89;2.89;2.84;2.84	4.12	4.12	0.48240	.	0.000000	0.56097	D	0.000029	T	0.28466	0.0704	M	0.69823	2.125	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.995	P;D;P	0.65684	0.867;0.937;0.867	T	0.01042	-1.1471	10	0.87932	D	0	-25.9141	12.1676	0.54139	0.0:1.0:0.0:0.0	.	86;81;81	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	H	81;81;81;81;81;86;81	ENSP00000305483:Q81H;ENSP00000390044:Q81H;ENSP00000355427:Q81H;ENSP00000355425:Q81H;ENSP00000391200:Q86H	ENSP00000305483:Q81H	Q	-	3	2	ZNF692	247118288	0.986000	0.35501	1.000000	0.80357	0.357000	0.29423	0.856000	0.27818	2.582000	0.87167	0.637000	0.83480	CAG	ZNF692	-	NULL	ENSG00000171163		0.627	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF692	HGNC	protein_coding	OTTHUMT00000097298.1	26	0.00	0	C	NM_017865		249151665	249151665	-1	no_errors	ENST00000451251	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	A
ZNF705A	440077	genome.wustl.edu	37	12	8328540	8328540	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr12:8328540T>C	ENST00000359286.4	+	4	407		c.e4+2			NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A						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(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		ATGACAATGGTAAGTTTTATA	0.378																																						dbGAP											0													37.0	39.0	38.0					12																	8328540		2196	4268	6464	-	-	-	SO:0001630	splice_region_variant	0			AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.318+2T>C	12.37:g.8328540T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e4+2	ENST00000359286.4	37	c.318+2	CCDS31737.1	12	.	.	.	.	.	.	.	.	.	.	t	2.377	-0.343101	0.05243	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	.	.	.	1.07	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2046	0.06661	0.3801:0.0:0.0:0.6198	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF705A	8219807	0.184000	0.23200	0.070000	0.20053	0.015000	0.08874	0.072000	0.14617	0.759000	0.33084	0.329000	0.21502	.	ZNF705A	-	-	ENSG00000196946		0.378	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF705A	HGNC	protein_coding	OTTHUMT00000400449.1	312	0.00	0	T	NM_001004328	Intron	8328540	8328540	+1	no_errors	ENST00000359286	ensembl	human	known	69_37n	splice_site	363	26.22	129	SNP	0.607	C
ZNF714	148206	genome.wustl.edu	37	19	21300912	21300912	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:21300912A>G	ENST00000596143.1	+	5	1767	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AAATCTTACAAATGTGAAGAA	0.393																																						dbGAP											0													59.0	66.0	64.0					19																	21300912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1442A>G	19.37:g.21300912A>G	ENSP00000472368:p.Lys481Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K481R	ENST00000596143.1	37	c.1442	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	5.185	0.219648	0.09863	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	N	0.25825	0.765	0.09310	N	1	P;B;B	0.40431	0.717;0.199;0.088	B;B;B	0.39531	0.302;0.082;0.027	T	0.13388	-1.0511	8	0.66056	D	0.02	.	4.7231	0.12927	0.6742:0.3258:0.0:0.0	.	482;481;482	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	R	481	.	ENSP00000291770:K481R	K	+	2	0	ZNF714	21092752	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.206000	0.03011	0.389000	0.25086	0.379000	0.24179	AAA	ZNF714	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160352		0.393	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	83	0.00	0	A	NM_182515		21300912	21300912	+1	no_errors	ENST00000291770	ensembl	human	known	69_37n	missense	86	28.33	34	SNP	0.003	G
ZNF780B	163131	genome.wustl.edu	37	19	40540643	40540643	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:40540643T>C	ENST00000434248.1	-	5	2188	c.2123A>G	c.(2122-2124)tAt>tGt	p.Y708C	ZNF780B_ENST00000221355.6_Missense_Mutation_p.Y560C	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	708					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTGGTAATGATATCTAAAGGT	0.413																																						dbGAP											0													62.0	67.0	65.0					19																	40540643		2181	4285	6466	-	-	-	SO:0001583	missense	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2123A>G	19.37:g.40540643T>C	ENSP00000391641:p.Tyr708Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH00	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.Y708C	ENST00000434248.1	37	c.2123	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	t	14.39	2.520874	0.44866	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.08546	3.08;3.08	2.42	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	N	0.20610	0.595	0.09310	N	1	D	0.58620	0.983	P	0.51297	0.665	T	0.32981	-0.9886	9	0.30854	T	0.27	.	4.9605	0.14063	0.5337:0.0:0.0:0.4663	.	708	Q9Y6R6	Z780B_HUMAN	C	708;560	ENSP00000391641:Y708C;ENSP00000221355:Y560C	ENSP00000221355:Y560C	Y	-	2	0	ZNF780B	45232483	0.000000	0.05858	0.001000	0.08648	0.939000	0.58152	-0.906000	0.04071	0.043000	0.15746	0.379000	0.24179	TAT	ZNF780B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128000		0.413	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	54	0.00	0	T	NM_001005851		40540643	40540643	-1	no_errors	ENST00000434248	ensembl	human	known	69_37n	missense	60	27.71	23	SNP	0.000	C
ZNF773	374928	genome.wustl.edu	37	19	58018211	58018211	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:58018211A>G	ENST00000282292.4	+	4	888	c.748A>G	c.(748-750)Agt>Ggt	p.S250G	ZNF773_ENST00000598770.1_Missense_Mutation_p.S249G|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	250					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(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		TTATGGGTGTAGTGACTGTGG	0.413																																						dbGAP											0													89.0	89.0	89.0					19																	58018211		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.748A>G	19.37:g.58018211A>G	ENSP00000282292:p.Ser250Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DL8	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.S250G	ENST00000282292.4	37	c.748	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	A	0.241	-1.013925	0.02095	.	.	ENSG00000152439	ENST00000282292	T	0.18960	2.18	1.18	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	N	0.13352	0.335	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.24905	-1.0147	9	0.46703	T	0.11	.	5.4523	0.16572	0.716:0.2839:0.0:0.0	.	249;250	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	G	250	ENSP00000282292:S250G	ENSP00000282292:S250G	S	+	1	0	ZNF773	62710023	0.000000	0.05858	0.961000	0.40146	0.947000	0.59692	-2.879000	0.00716	0.790000	0.33803	0.260000	0.18958	AGT	ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152439		0.413	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	94	0.00	0	A	NM_198542		58018211	58018211	+1	no_errors	ENST00000282292	ensembl	human	known	69_37n	missense	94	26.92	35	SNP	0.003	G
ZNF785	146540	genome.wustl.edu	37	16	30594328	30594328	+	Silent	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr16:30594328C>T	ENST00000395216.2	-	3	930	c.771G>A	c.(769-771)gcG>gcA	p.A257A	ZNF785_ENST00000470110.1_Silent_p.A242A|AC002310.7_ENST00000486926.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	257					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.A257A(1)		endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGTCTGAGCACGCGTAAGGCT	0.667																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											53.0	46.0	48.0					16																	30594328		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.771G>A	16.37:g.30594328C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75701|Q8IW91|Q8WV14|Q96MN0	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.A257	ENST00000395216.2	37	c.771	CCDS10685.1	16																																																																																			ZNF785	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197162		0.667	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2	56	0.00	0	C	NM_152458		30594328	30594328	-1	no_errors	ENST00000395216	ensembl	human	known	69_37n	silent	39	35.00	21	SNP	0.000	T
ZNF790	388536	genome.wustl.edu	37	19	37309789	37309789	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:37309789G>A	ENST00000356725.4	-	5	1577	c.1457C>T	c.(1456-1458)aCc>aTc	p.T486I	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	486			T -> S (in dbSNP:rs4369791).		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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACGAAAAAAGGTCTTTCCACA	0.388																																						dbGAP											0													84.0	81.0	82.0					19																	37309789		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1457C>T	19.37:g.37309789G>A	ENSP00000349161:p.Thr486Ile	Somatic		WXS	Illumina GAIIx	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.T486I	ENST00000356725.4	37	c.1457	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	G	6.963	0.547694	0.13312	.	.	ENSG00000197863	ENST00000356725	T	0.20881	2.04	3.14	2.09	0.27110	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15998	0.0385	L	0.42744	1.35	0.09310	N	1	B	0.21606	0.058	B	0.19148	0.024	T	0.26780	-1.0093	9	0.66056	D	0.02	.	3.5348	0.07790	0.2446:0.2158:0.5396:0.0	.	486	Q6PG37	ZN790_HUMAN	I	486	ENSP00000349161:T486I	ENSP00000349161:T486I	T	-	2	0	ZNF790	42001629	0.000000	0.05858	0.031000	0.17742	0.399000	0.30720	-0.382000	0.07408	0.653000	0.30826	-0.339000	0.08088	ACC	ZNF790	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197863		0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	77	0.00	0	G	NM_206894		37309789	37309789	-1	no_errors	ENST00000356725	ensembl	human	known	69_37n	missense	77	27.36	29	SNP	0.002	A
ZNF878	729747	genome.wustl.edu	37	19	12154701	12154701	+	Silent	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:12154701T>C	ENST00000547628.1	-	4	1652	c.1515A>G	c.(1513-1515)aaA>aaG	p.K505K	ZNF878_ENST00000602107.1_Silent_p.K552K|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	505					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ACTCATAGGGTTTCTCTCCAG	0.418																																						dbGAP											0													62.0	71.0	68.0					19																	12154701		2197	4296	6493	-	-	-	SO:0001819	synonymous_variant	0				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1515A>G	19.37:g.12154701T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		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.K505	ENST00000547628.1	37	c.1515	CCDS45984.2	19																																																																																			ZNF878	-	pfscan_Znf_C2H2	ENSG00000257446		0.418	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	68	0.00	0	T	NM_001080404		12154701	12154701	-1	no_errors	ENST00000547628	ensembl	human	novel	69_37n	silent	84	20.75	22	SNP	0.999	C
ZNF805	390980	genome.wustl.edu	37	19	57765284	57765284	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:57765284C>T	ENST00000414468.2	+	4	1097	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	ZNF805_ENST00000354309.4_Missense_Mutation_p.T233I|ZNF805_ENST00000535550.1_Missense_Mutation_p.T233I	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	366					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						CAGACTCATACCGGGGAGAAG	0.517																																						dbGAP											0													55.0	59.0	58.0					19																	57765284		692	1591	2283	-	-	-	SO:0001583	missense	0			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.1097C>T	19.37:g.57765284C>T	ENSP00000412999:p.Thr366Ile	Somatic		WXS	Illumina GAIIx	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.T366I	ENST00000414468.2	37	c.1097	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397960	0.62177	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.25749	1.78;1.78;1.78	3.76	2.68	0.31781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.175774	0.27677	N	0.018303	T	0.43567	0.1253	M	0.70595	2.14	0.33360	D	0.572152	P	0.46512	0.879	P	0.57152	0.814	T	0.61987	-0.6949	10	0.87932	D	0	.	12.6599	0.56808	0.0:0.8308:0.1692:0.0	.	366	Q5CZA5	ZN805_HUMAN	I	233;366;233	ENSP00000440067:T233I;ENSP00000412999:T366I;ENSP00000365414:T233I	ENSP00000365414:T233I	T	+	2	0	ZNF805	62457096	0.123000	0.22298	0.450000	0.26969	0.724000	0.41520	1.581000	0.36558	1.104000	0.41587	0.563000	0.77884	ACC	ZNF805	-	pfscan_Znf_C2H2	ENSG00000204524		0.517	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	86	0.00	0	C	NM_001023563		57765284	57765284	+1	no_errors	ENST00000414468	ensembl	human	known	69_37n	missense	102	25.00	34	SNP	0.996	T
ZPLD1	131368	genome.wustl.edu	37	3	102187981	102187981	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr3:102187981T>C	ENST00000491959.1	+	15	1815		c.e15+2		ZPLD1_ENST00000466937.1_Splice_Site|ZPLD1_ENST00000306176.1_Splice_Site			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTATGCCGGTATGTTTTTAA	0.388																																						dbGAP											0													126.0	124.0	125.0					3																	102187981		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.933+2T>C	3.37:g.102187981T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AS1|Q8WU36	Splice_Site	SNP	-	e8+2	ENST00000491959.1	37	c.981+2		3	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313361	0.60414	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5243	0.75890	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZPLD1	103670671	1.000000	0.71417	0.999000	0.59377	0.529000	0.34654	7.991000	0.88244	2.077000	0.62373	0.379000	0.24179	.	ZPLD1	-	-	ENSG00000170044		0.388	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	123	0.00	0	T	NM_175056	Intron	102187981	102187981	+1	no_errors	ENST00000306176	ensembl	human	known	69_37n	splice_site	133	25.56	46	SNP	1.000	C
ZSCAN22	342945	genome.wustl.edu	37	19	58846472	58846472	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr19:58846472delC	ENST00000329665.4	+	2	451	c.304delC	c.(304-306)cccfs	p.P103fs		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	103	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGGTGCGCTGCCCCCAGAGAT	0.647																																						dbGAP											0													32.0	34.0	33.0					19																	58846472		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.304delC	19.37:g.58846472delC	ENSP00000332433:p.Pro103fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15922|Q7Z3L8	Frame_Shift_Del	DEL	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.P103fs	ENST00000329665.4	37	c.304	CCDS12975.1	19																																																																																			ZSCAN22	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000182318		0.647	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	31	0.00	0	C	NM_181846		58846472	58846472	+1	no_errors	ENST00000329665	ensembl	human	known	69_37n	frame_shift_del	32	25.00	11	DEL	1.000	-
ZSCAN23	222696	genome.wustl.edu	37	6	28403763	28403763	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XK-01A-21D-A14K-09	TCGA-D8-A1XK-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b704b7c-56d2-4816-8c47-055a794afb69	9f5b3aca-b473-43e0-9dc5-6339152822a5	g.chr6:28403763T>C	ENST00000289788.4	-	2	426	c.281A>G	c.(280-282)gAg>gGg	p.E94G	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	94	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						CAGGAACTGCTCCAGCACCAG	0.602																																						dbGAP											0													53.0	51.0	52.0					6																	28403763		692	1591	2283	-	-	-	SO:0001583	missense	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.281A>G	6.37:g.28403763T>C	ENSP00000289788:p.Glu94Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96KV9	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.E94G	ENST00000289788.4	37	c.281	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793441	0.70452	.	.	ENSG00000187987	ENST00000289788	T	0.16897	2.31	3.6	3.6	0.41247	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.47093	D	0.000256	T	0.46483	0.1395	H	0.98721	4.31	0.30967	N	0.723013	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.59129	-0.7512	10	0.87932	D	0	.	8.8714	0.35318	0.0:0.0:0.0:1.0	.	94;94	G3V1D5;Q3MJ62	.;ZSC23_HUMAN	G	94	ENSP00000289788:E94G	ENSP00000289788:E94G	E	-	2	0	ZSCAN23	28511742	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.651000	0.46674	1.842000	0.53543	0.455000	0.32223	GAG	ZSCAN23	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000187987		0.602	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	95	0.00	0	T	XM_167147		28403763	28403763	-1	no_errors	ENST00000289788	ensembl	human	known	69_37n	missense	110	10.48	13	SNP	1.000	C
