#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_ORegAnno_bin	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
AASDH	132949	genome.wustl.edu	37	4	57250358	57250358	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr4:57250358C>A	ENST00000205214.6	-	2	288	c.108G>T	c.(106-108)aaG>aaT	p.K36N	AASDH_ENST00000451613.1_Missense_Mutation_p.K36N|AASDH_ENST00000513376.1_Intron|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.K36N|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	36					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TAACCACAGTCTTGTAGGTGT	0.418																																						dbGAP											0													116.0	108.0	110.0					4																	57250358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.108G>T	4.37:g.57250358C>A	ENSP00000205214:p.Lys36Asn		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.K36N	ENST00000205214.6	37	c.108	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	C	9.823	1.186221	0.21870	.	.	ENSG00000157426	ENST00000205214;ENST00000451613;ENST00000502617	T;T;T	0.41758	0.99;0.99;0.99	5.92	2.22	0.28083	AMP-dependent synthetase/ligase (1);	0.828892	0.11719	N	0.536144	T	0.36524	0.0970	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.43352	0.804;0.551;0.804;0.734	P;B;B;P	0.45406	0.463;0.397;0.369;0.479	T	0.17258	-1.0375	10	0.30078	T	0.28	-0.4739	2.4899	0.04607	0.1199:0.4994:0.1168:0.2639	.	36;36;36;36	Q4L235-4;B4E2K0;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	N	36	ENSP00000205214:K36N;ENSP00000409656:K36N;ENSP00000421171:K36N	ENSP00000205214:K36N	K	-	3	2	AASDH	56945115	0.000000	0.05858	0.077000	0.20336	0.314000	0.28054	-1.302000	0.02746	0.398000	0.25338	-0.142000	0.14014	AAG	AASDH	-	pfam_AMP-dep_Synth/Lig	ENSG00000157426		0.418	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	48	0.00	0	C	NM_181806		57250358	57250358	-1	no_errors	ENST00000205214	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.004	A
ABCA13	154664	genome.wustl.edu	37	7	48522685	48522685	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr7:48522685G>T	ENST00000435803.1	+	47	13131	c.13107G>T	c.(13105-13107)tgG>tgT	p.W4369C	ABCA13_ENST00000544596.1_Missense_Mutation_p.W99C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4369					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						TTGGAGGTTGGTCTTTTGGAT	0.403																																						dbGAP											0													93.0	88.0	89.0					7																	48522685		1851	4108	5959	-	-	-	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.13107G>T	7.37:g.48522685G>T	ENSP00000411096:p.Trp4369Cys		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.W4369C	ENST00000435803.1	37	c.13107	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294494	0.60086	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87179	-2.08;-2.22;-2.19	5.29	5.29	0.74685	.	0.000000	0.47093	D	0.000251	D	0.93255	0.7851	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	D	0.93863	0.7155	10	0.72032	D	0.01	.	14.3984	0.67027	0.0:0.0:1.0:0.0	.	99;2071;4369	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	C	4369;142;99	ENSP00000411096:W4369C;ENSP00000391042:W142C;ENSP00000442634:W99C	ENSP00000391042:W142C	W	+	3	0	ABCA13	48493231	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.945000	0.63568	2.463000	0.83235	0.563000	0.77884	TGG	ABCA13	-	NULL	ENSG00000179869		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	25	0.00	0	G	NM_152701		48522685	48522685	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	1.000	T
ABCC6	368	genome.wustl.edu	37	16	16255343	16255343	+	Silent	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:16255343G>T	ENST00000205557.7	-	25	3614	c.3585C>A	c.(3583-3585)gcC>gcA	p.A1195A		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1195	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CACTGAGGTGGGCTTTGCTCA	0.612																																						dbGAP											0													73.0	67.0	69.0					16																	16255343		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3585C>A	16.37:g.16255343G>T			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.A1195	ENST00000205557.7	37	c.3585	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000091262		0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	70	0.00	0	G			16255343	16255343	-1	no_errors	ENST00000205557	ensembl	human	known	69_37n	silent	18	14.29	3	SNP	0.868	T
ADAMTS17	170691	genome.wustl.edu	37	15	100657113	100657113	+	Silent	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr15:100657113G>A	ENST00000268070.4	-	13	1932	c.1827C>T	c.(1825-1827)tgC>tgT	p.C609C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	609	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGTGTGCCTGGCACTGCTGGT	0.637																																						dbGAP											0													70.0	55.0	60.0					15																	100657113		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1827C>T	15.37:g.100657113G>A			Q2I7G4|Q6ZN75	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C609	ENST00000268070.4	37	c.1827	CCDS10383.1	15																																																																																			ADAMTS17	-	NULL	ENSG00000140470		0.637	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	102	0.00	0	G	NM_139057		100657113	100657113	-1	no_errors	ENST00000268070	ensembl	human	known	69_37n	silent	25	13.79	4	SNP	1.000	A
ADAMTS19	171019	genome.wustl.edu	37	5	129001239	129001239	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr5:129001239G>T	ENST00000274487.4	+	16	2600	c.2455G>T	c.(2455-2457)Gtt>Ttt	p.V819F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	819	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGAATCAAAGTTGTGGAGGA	0.418																																						dbGAP											0													122.0	109.0	114.0					5																	129001239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2455G>T	5.37:g.129001239G>T	ENSP00000274487:p.Val819Phe			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V819F	ENST00000274487.4	37	c.2455	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204434	0.79127	.	.	ENSG00000145808	ENST00000274487	T	0.60424	0.19	4.69	3.82	0.43975	ADAM-TS Spacer 1 (1);	0.000000	0.49916	D	0.000136	T	0.71108	0.3301	M	0.77103	2.36	0.53005	D	0.999966	D	0.54601	0.967	P	0.57720	0.826	T	0.74671	-0.3587	9	.	.	.	.	14.1859	0.65605	0.0735:0.0:0.9265:0.0	.	819	Q8TE59	ATS19_HUMAN	F	819	ENSP00000274487:V819F	.	V	+	1	0	ADAMTS19	129029138	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	5.972000	0.70448	1.582000	0.49881	0.655000	0.94253	GTT	ADAMTS19	-	pfam_ADAM_spacer1	ENSG00000145808		0.418	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	40	0.00	0	G	NM_133638		129001239	129001239	+1	no_errors	ENST00000274487	ensembl	human	known	69_37n	missense	23	11.54	3	SNP	1.000	T
ADNP	23394	genome.wustl.edu	37	20	49509303	49509303	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr20:49509303T>A	ENST00000396029.3	-	5	2515	c.1948A>T	c.(1948-1950)Att>Ttt	p.I650F	ADNP_ENST00000396032.3_Missense_Mutation_p.I650F|ADNP_ENST00000349014.3_Missense_Mutation_p.I650F|ADNP_ENST00000371602.4_Missense_Mutation_p.I650F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	650					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ACCGTCTGAATAACTTGGTGC	0.433																																						dbGAP											0													182.0	173.0	176.0					20																	49509303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1948A>T	20.37:g.49509303T>A	ENSP00000379346:p.Ile650Phe		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.I650F	ENST00000396029.3	37	c.1948	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514714	0.64634	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.8	5.8	0.92144	.	0.044585	0.85682	D	0.000000	T	0.53916	0.1826	L	0.40543	1.245	0.80722	D	1	P	0.49185	0.92	B	0.43478	0.421	T	0.59799	-0.7386	9	0.72032	D	0.01	-12.5313	16.1401	0.81517	0.0:0.0:0.0:1.0	.	650	Q9H2P0	ADNP_HUMAN	F	650	.	ENSP00000342905:I650F	I	-	1	0	ADNP	48942710	1.000000	0.71417	0.916000	0.36221	0.991000	0.79684	5.889000	0.69766	2.206000	0.71126	0.528000	0.53228	ATT	ADNP	-	NULL	ENSG00000101126		0.433	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	62	0.00	0	T	NM_181442		49509303	49509303	-1	no_errors	ENST00000349014	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.998	A
AHDC1	27245	genome.wustl.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:27875353_27875355delAGG	ENST00000247087.5	-	5	3868_3870	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000374011.2_In_Frame_Del_p.S1091del			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3272_3274delCCT	1.37:g.27875362_27875364delAGG	ENSP00000247087:p.Ser1091del		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	NULL	p.S1091in_frame_del	ENST00000247087.5	37	c.3274_3272	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.665	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	96	0.00	0	AGG			27875353	27875355	-1	no_errors	ENST00000247087	ensembl	human	known	69_37n	in_frame_del	23	11.54	3	DEL	1.000:1.000:1.000	-
AK4	205	genome.wustl.edu	37	1	65684526	65684526	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:65684526C>T	ENST00000327299.7	+	3	560	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	AK4_ENST00000395334.2_Missense_Mutation_p.L119F|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000545314.1_Missense_Mutation_p.L119F|AK4_ENST00000546702.1_Missense_Mutation_p.L67F	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						ATTTGAAACACTTAAAGATCG	0.418																																						dbGAP											0													54.0	56.0	55.0					1																	65684526		2202	4281	6483	-	-	-	SO:0001583	missense	0			AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.355C>T	1.37:g.65684526C>T	ENSP00000322175:p.Leu119Phe			Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.L119F	ENST00000327299.7	37	c.355	CCDS629.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384016	0.82792	.	.	ENSG00000162433	ENST00000545314;ENST00000546702;ENST00000395334;ENST00000327299	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	4.78	3.87	0.44632	.	0.060562	0.64402	D	0.000004	D	0.91415	0.7291	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93358	0.6724	10	0.87932	D	0	-28.2641	12.9857	0.58590	0.0:0.9209:0.0:0.0791	.	119	P27144	KAD4_HUMAN	F	119;67;119;119	ENSP00000445912:L119F;ENSP00000448458:L67F;ENSP00000378743:L119F;ENSP00000322175:L119F	ENSP00000322175:L119F	L	+	1	0	AK4	65457114	0.988000	0.35896	1.000000	0.80357	0.985000	0.73830	2.795000	0.47861	1.378000	0.46305	0.655000	0.94253	CTT	AK4	-	pfam_Adenylate_kin,tigrfam_Adenyl_kin_sub	ENSG00000162433		0.418	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK4	HGNC	protein_coding	OTTHUMT00000025040.2	116	0.00	0	C	NM_013410		65684526	65684526	+1	no_errors	ENST00000327299	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	T
ATG12	9140	genome.wustl.edu	37	5	115177425	115177425	+	5'UTR	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr5:115177425G>T	ENST00000509910.1	-	0	130				ATG12_ENST00000274459.4_5'UTR|ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_5'Flank			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CTGAACGTTAGTAACGCAACA	0.562																																						dbGAP											0													30.0	35.0	34.0					5																	115177425		2194	4294	6488	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.-176C>A	5.37:g.115177425G>T			Q6PJV2	RNA	SNP	-	NULL	ENST00000509910.1	37	NULL	CCDS4122.2	5																																																																																			AP3S1	-	-	ENSG00000177879		0.562	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250851.3	38	0.00	0	G	NM_004707		115177425	115177425	+1	no_errors	ENST00000514118	ensembl	human	known	69_37n	rna	11	21.43	3	SNP	0.000	T
AR	367	genome.wustl.edu	37	X	66765243	66765245	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:66765243_66765245delGCA	ENST00000374690.3	+	1	779_781	c.255_257delGCA	c.(253-258)aggcag>agg	p.Q91del	AR_ENST00000396044.3_In_Frame_Del_p.Q91del|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.Q91del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	89	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ctagccccaggcagcagcagcag	0.631									Androgen Insensitivity Syndrome																													dbGAP											0										106,3549		2,75,27,1499,476						1.9	0.0			13	273,6108		4,143,122,2190,1585	no	coding	AR	NM_000044.3		6,218,149,3689,2061	A1A1,A1R,A1,RR,R		4.2783,2.9001,3.7764				379,9657				-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.255_257delGCA	X.37:g.66765252_66765254delGCA	ENSP00000363822:p.Gln91del		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	pfam_Andrgn_rcpt,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,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.Q89in_frame_del	ENST00000374690.3	37	c.255_257	CCDS14387.1	X																																																																																			AR	-	pfam_Andrgn_rcpt	ENSG00000169083		0.631	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	59	0.00	0	GCA	NM_000044		66765243	66765245	+1	no_errors	ENST00000374690	ensembl	human	known	69_37n	in_frame_del	19	13.64	3	DEL	0.989:0.995:0.990	-
ARHGEF4	50649	genome.wustl.edu	37	2	131797588	131797588	+	Splice_Site	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:131797588G>T	ENST00000326016.5	+	7	1266		c.e7-1		ARHGEF4_ENST00000409303.1_Splice_Site|ARHGEF4_ENST00000525839.1_Splice_Site|ARHGEF4_ENST00000355771.3_Splice_Site|ARHGEF4_ENST00000439368.2_Splice_Site|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000392953.3_Splice_Site	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4						apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ATGGCCTGCAGCTGAGGGTGA	0.756																																						dbGAP											0													19.0	22.0	21.0					2																	131797588		2123	4212	6335	-	-	-	SO:0001630	splice_region_variant	0			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.748-1G>T	2.37:g.131797588G>T			Q9HDC6|Q9UPP0	Splice_Site	SNP	-	e5-1	ENST00000326016.5	37	c.748-1	CCDS2165.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978483	0.74360	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3613	0.74478	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF4	131514058	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	8.801000	0.91905	2.218000	0.71995	0.491000	0.48974	.	ARHGEF4	-	-	ENSG00000136002		0.756	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	82	0.00	0	G		Intron	131797588	131797588	+1	no_errors	ENST00000326016	ensembl	human	known	69_37n	splice_site	22	15.38	4	SNP	1.000	T
BMP2K	55589	genome.wustl.edu	37	4	79792109	79792109	+	Silent	SNP	A	A	G	rs553571896	byFrequency	TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr4:79792109A>G	ENST00000335016.5	+	11	1570	c.1404A>G	c.(1402-1404)caA>caG	p.Q468Q	BMP2K_ENST00000502871.1_Silent_p.Q468Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	468	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcaacagcaacagc	0.537													G|||	114	0.0227636	0.084	0.0014	5008	,	,		11622	0.001		0.001	False		,,,				2504	0.0					dbGAP											0													25.0	30.0	28.0					4																	79792109		2131	4102	6233	-	-	-	SO:0001819	synonymous_variant	0			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1404A>G	4.37:g.79792109A>G			O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	NULL	p.T161A	ENST00000335016.5	37	c.481	CCDS47083.1	4	.	.	.	.	.	.	.	.	.	.	G	2.379	-0.342562	0.05243	.	.	ENSG00000138756	ENST00000502613	.	.	.	3.07	-0.396	0.12427	.	.	.	.	.	T	0.24084	0.0583	.	.	.	0.21675	N	0.999595	.	.	.	.	.	.	T	0.26430	-1.0103	4	.	.	.	.	5.2694	0.15617	0.2979:0.0:0.5422:0.16	.	.	.	.	A	161	.	.	T	+	1	0	BMP2K	80011133	0.990000	0.36364	0.001000	0.08648	0.001000	0.01503	-0.131000	0.10482	-0.440000	0.07211	-0.505000	0.04504	ACA	BMP2K	-	NULL	ENSG00000138756		0.537	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		61	0.00	0	A	NM_017593		79792109	79792109	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000502613	ensembl	human	putative	69_37n	missense	55	11.29	7	SNP	0.292	G
PROSER2	254427	genome.wustl.edu	37	10	11908766	11908766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:11908766delG	ENST00000277570.5	+	3	529	c.375delG	c.(373-375)gagfs	p.E125fs	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000379200.1_5'Flank|PROSER2_ENST00000474155.1_3'UTR	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	125																	GCCTTCCAGAGGGGACCCAGG	0.612																																						dbGAP											0													26.0	28.0	27.0					10																	11908766		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.375delG	10.37:g.11908766delG	ENSP00000277570:p.Glu125fs		D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Frame_Shift_Del	DEL	NULL	p.T127fs	ENST00000277570.5	37	c.375	CCDS7085.1	10																																																																																			C10orf47	-	NULL	ENSG00000148426		0.612	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf47	HGNC	protein_coding	OTTHUMT00000090189.2	86	0.00	0	G	NM_153256		11908766	11908766	+1	no_errors	ENST00000277570	ensembl	human	known	69_37n	frame_shift_del	14	11.76	2	DEL	0.000	-
TMEM256	254863	genome.wustl.edu	37	17	7306413	7306413	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr17:7306413delA	ENST00000302422.3	-	4	366	c.314delT	c.(313-315)ctcfs	p.L106fs	NLGN2_ENST00000575301.1_5'Flank|C17orf61-PLSCR3_ENST00000573331.1_Intron|TMEM256-PLSCR3_ENST00000535512.1_Intron	NM_152766.3	NP_689979.1	Q8N2U0	TM256_HUMAN	transmembrane protein 256	106						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCAGCCCAAGAGTAGCAGGGT	0.502																																						dbGAP											0													45.0	50.0	48.0					17																	7306413		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			BC030270	CCDS11102.1	17p13.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000205544	ENSG00000205544			28618	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 61"""	C17orf61		12477932	Standard	NM_152766		Approved	MGC40107	uc002ggs.3	Q8N2U0	OTTHUMG00000132900	ENST00000302422.3:c.314delT	17.37:g.7306413delA	ENSP00000301939:p.Leu106fs			Frame_Shift_Del	DEL	pfam_DUF423	p.L105fs	ENST00000302422.3	37	c.314	CCDS11102.1	17																																																																																			C17orf61	-	NULL	ENSG00000205544		0.502	TMEM256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf61	HGNC	protein_coding	OTTHUMT00000256404.1	57	0.00	0	A	NM_152766		7306413	7306413	-1	no_errors	ENST00000302422	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.040	-
C1R	715	genome.wustl.edu	37	12	7241994	7241994	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:7241994G>T	ENST00000542285.1	-	5	809	c.660C>A	c.(658-660)aaC>aaA	p.N220K	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	221	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGATGCTGTAGTTGCAGCGCA	0.597																																						dbGAP											0													57.0	61.0	60.0					12																	7241994		2046	4195	6241	-	-	-	SO:0001583	missense	0			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.660C>A	12.37:g.7241994G>T	ENSP00000438615:p.Asn220Lys		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.N235K	ENST00000542285.1	37	c.705		12	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223037	0.39300	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285	T	0.19806	2.12	5.54	4.65	0.58169	CUB (5);	0.000000	0.64402	D	0.000001	T	0.33498	0.0865	.	.	.	0.44852	D	0.997867	D;D;P	0.89917	1.0;1.0;0.594	D;D;B	0.97110	0.999;1.0;0.261	T	0.08310	-1.0728	9	0.06891	T	0.86	.	14.328	0.66532	0.0712:0.0:0.9288:0.0	.	187;235;221	F5H2D0;B4DPQ0;P00736	.;.;C1R_HUMAN	K	221;235;187;235;220	ENSP00000438615:N220K	ENSP00000290575:N235K	N	-	3	2	C1R	7133135	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.378000	0.52432	1.346000	0.45694	0.555000	0.69702	AAC	C1R	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000159403		0.597	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		68	0.00	0	G	NM_001733		7241994	7241994	-1	no_errors	ENST00000290575	ensembl	human	known	69_37n	missense	16	15.79	3	SNP	1.000	T
C1orf194	127003	genome.wustl.edu	37	1	109650648	109650648	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:109650648A>T	ENST00000369948.3	-	2	168	c.93T>A	c.(91-93)taT>taA	p.Y31*	C1orf194_ENST00000369949.4_Nonsense_Mutation_p.Y19*|C1orf194_ENST00000369945.3_Intron			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	31										large_intestine(2)|lung(2)|ovary(2)	6						TTGGGTTCTTATATGGCAATT	0.483																																						dbGAP											0													187.0	173.0	177.0					1																	109650648		1568	3581	5149	-	-	-	SO:0001587	stop_gained	0				CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.93T>A	1.37:g.109650648A>T	ENSP00000358964:p.Tyr31*		Q5T5A3	Nonsense_Mutation	SNP	pfam_DUF3695	p.Y31*	ENST00000369948.3	37	c.93		1	.	.	.	.	.	.	.	.	.	.	N	27.4	4.825348	0.90955	.	.	ENSG00000179902	ENST00000369949;ENST00000369948	.	.	.	4.01	0.646	0.17789	.	0.623994	0.14389	N	0.322658	.	.	.	.	.	.	0.36086	D	0.843092	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3433	6.944	0.24508	0.6723:0.0:0.3277:0.0	.	.	.	.	X	19;31	.	ENSP00000358964:Y31X	Y	-	3	2	C1orf194	109452171	0.097000	0.21791	0.189000	0.23252	0.941000	0.58515	0.252000	0.18278	0.009000	0.14813	-0.379000	0.06801	TAT	C1orf194	-	pfam_DUF3695	ENSG00000179902		0.483	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	C1orf194	HGNC	protein_coding	OTTHUMT00000032416.2	59	0.00	0	A	NM_001122961		109650648	109650648	-1	no_errors	ENST00000369948	ensembl	human	known	69_37n	nonsense	33	15.00	6	SNP	0.106	T
CAD	790	genome.wustl.edu	37	2	27462294	27462294	+	Frame_Shift_Del	DEL	C	C	-	rs538568131		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:27462294delC	ENST00000403525.1	+	32	5304	c.5160delC	c.(5158-5160)gtcfs	p.V1720fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.V1783fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCACCGTCCGCCGTGTGG	0.587																																						dbGAP											0													86.0	74.0	78.0					2																	27462294		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5160delC	2.37:g.27462294delC	ENSP00000384510:p.Val1720fs		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.R1784fs	ENST00000403525.1	37	c.5349		2																																																																																			CAD	-	superfamily_Metal-dep_hydrolase_composite	ENSG00000084774		0.587	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	45	0.00	0	C			27462294	27462294	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	0.960	-
CALD1	800	genome.wustl.edu	37	7	134618516	134618516	+	Silent	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr7:134618516G>A	ENST00000361675.2	+	5	1225	c.996G>A	c.(994-996)aaG>aaA	p.K332K	CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	332	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						agaggataaaggaggaagaga	0.507																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.996G>A	7.37:g.134618516G>A			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.K332	ENST00000361675.2	37	c.996	CCDS5835.1	7																																																																																			CALD1	-	pfam_Caldesmon_LSP	ENSG00000122786		0.507	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	129	0.00	0	G	NM_033138		134618516	134618516	+1	no_errors	ENST00000361675	ensembl	human	novel	69_37n	silent	151	13.64	24	SNP	0.181	A
RP11-690P14.4	0	genome.wustl.edu	37	10	97752374	97752374	+	3'UTR	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:97752374G>T	ENST00000475252.2	+	0	846				CC2D2B_ENST00000371198.2_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA																							CAGCGCAGGCGATCTCTGACG	0.403																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0																														ENST00000475252.2:c.*327G>T	10.37:g.97752374G>T				RNA	SNP	-	NULL	ENST00000475252.2	37	NULL		10																																																																																			CC2D2B	-	-	ENSG00000188649		0.403	RP11-690P14.4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	CC2D2B	HGNC	protein_coding	OTTHUMT00000468152.1	48	0.00	0	G			97752374	97752374	+1	no_errors	ENST00000475252	ensembl	human	known	69_37n	rna	33	25.00	11	SNP	0.000	T
CDH1	999	genome.wustl.edu	37	16	68856113	68856113	+	Nonsense_Mutation	SNP	C	C	T	rs587782750		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:68856113C>T	ENST00000261769.5	+	12	2112	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q580*|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	641	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTGGACCATTCAGTACAACGA	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0													85.0	71.0	76.0					16																	68856113		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1921C>T	16.37:g.68856113C>T	ENSP00000261769:p.Gln641*		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q641*	ENST00000261769.5	37	c.1921	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075266	0.76415	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	.	.	.	5.68	1.38	0.22167	.	0.534251	0.16818	N	0.198277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	9.0804	0.36547	0.1308:0.5052:0.364:0.0	.	.	.	.	X	641;659;580	.	ENSP00000261769:Q641X	Q	+	1	0	CDH1	67413614	0.014000	0.17966	0.682000	0.30024	0.225000	0.24961	0.193000	0.17116	0.302000	0.22762	-0.163000	0.13421	CAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000039068		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	62	0.00	0	C	NM_004360		68856113	68856113	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	34	27.66	13	SNP	0.000	T
CDH1	999	genome.wustl.edu	37	16	68856113	68856113	+	Nonsense_Mutation	SNP	C	C	T	rs587782750		TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:68856113C>T	ENST00000261769.5	+	12	2112	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q580*|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	641	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTGGACCATTCAGTACAACGA	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0													85.0	71.0	76.0					16																	68856113		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1921C>T	16.37:g.68856113C>T	ENSP00000261769:p.Gln641*		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q641*	ENST00000261769.5	37	c.1921	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075266	0.76415	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	.	.	.	5.68	1.38	0.22167	.	0.534251	0.16818	N	0.198277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	9.0804	0.36547	0.1308:0.5052:0.364:0.0	.	.	.	.	X	641;659;580	.	ENSP00000261769:Q641X	Q	+	1	0	CDH1	67413614	0.014000	0.17966	0.682000	0.30024	0.225000	0.24961	0.193000	0.17116	0.302000	0.22762	-0.163000	0.13421	CAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000039068		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	62	0.00	0	C	NM_004360		68856113	68856113	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	42	28.81	17	SNP	0.000	T
CEACAM19	56971	genome.wustl.edu	37	19	45185851	45185851	+	Missense_Mutation	SNP	C	C	T	rs112109648		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:45185851C>T	ENST00000403660.3	+	7	1015	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Missense_Mutation_p.P269S|CEACAM19_ENST00000480278.1_3'UTR			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	269						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCTGCCCACACCCCCACACCT	0.642																																						dbGAP											0													24.0	22.0	22.0					19																	45185851		2193	4294	6487	-	-	-	SO:0001583	missense	0			AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.805C>T	19.37:g.45185851C>T	ENSP00000384887:p.Pro269Ser		Q5XJ15|Q7Z693	Missense_Mutation	SNP	pfam_Ig_V-set	p.P269S	ENST00000403660.3	37	c.805	CCDS12641.1	19	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313120	0.40895	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.03772	3.83;3.81	2.33	2.33	0.28932	.	0.337824	0.17047	U	0.189098	T	0.07638	0.0192	L	0.32530	0.975	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.58172	0.834;0.834	T	0.33701	-0.9858	10	0.19147	T	0.46	-10.0744	8.2592	0.31775	0.0:1.0:0.0:0.0	.	269;269	Q5XJ15;Q7Z692	.;CEA19_HUMAN	S	269	ENSP00000351627:P269S;ENSP00000384887:P269S	ENSP00000351627:P269S	P	+	1	0	CEACAM19	49877691	0.012000	0.17670	0.002000	0.10522	0.001000	0.01503	2.633000	0.46519	1.625000	0.50366	0.491000	0.48974	CCC	CEACAM19	-	NULL	ENSG00000186567		0.642	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM19	HGNC	protein_coding	OTTHUMT00000323022.1	175	0.00	0	C	NM_020219		45185851	45185851	+1	no_errors	ENST00000403660	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	0.002	T
CEP152	22995	genome.wustl.edu	37	15	49031110	49031110	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr15:49031110A>T	ENST00000380950.2	-	27	4656	c.4469T>A	c.(4468-4470)cTt>cAt	p.L1490H	CEP152_ENST00000399334.3_Missense_Mutation_p.L1434H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1490					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAATGCGGAAGTGATTCAGA	0.448																																						dbGAP											0													126.0	122.0	124.0					15																	49031110		1901	4132	6033	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4469T>A	15.37:g.49031110A>T	ENSP00000370337:p.Leu1490His		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L1490H	ENST00000380950.2	37	c.4469	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	A	5.375	0.254397	0.10185	.	.	ENSG00000103995	ENST00000399334	T	0.56103	0.48	4.34	-0.671	0.11381	.	1.293030	0.05362	N	0.533956	T	0.34250	0.0891	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.11421	-1.0588	10	0.20519	T	0.43	1.0468	0.1968	0.00140	0.372:0.1534:0.177:0.2976	.	1434	O94986	CE152_HUMAN	H	1434	ENSP00000382271:L1434H	ENSP00000382271:L1434H	L	-	2	0	CEP152	46818402	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.217000	0.09253	-0.123000	0.11745	0.455000	0.32223	CTT	CEP152	-	NULL	ENSG00000103995		0.448	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	41	0.00	0	A	NM_014985		49031110	49031110	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.000	T
CHUK	1147	genome.wustl.edu	37	10	101950666	101950667	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:101950666_101950667delAT	ENST00000370397.7	-	20	2253_2254	c.2167_2168delAT	c.(2167-2169)attfs	p.I724fs	CHUK_ENST00000590930.1_5'UTR|ERLIN1_ENST00000421367.2_5'Flank|RP11-316M21.7_ENST00000443919.1_RNA	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	724					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|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)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|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)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTCATGAATAATAGTGCTTAAA	0.401																																					Ovarian(159;52 1904 10536 35305 37148)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.2167_2168delAT	10.37:g.101950666_101950667delAT	ENSP00000359424:p.Ile724fs		O14666|Q13132|Q5W0I4|Q92467	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,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.I723fs	ENST00000370397.7	37	c.2168_2167	CCDS7488.1	10																																																																																			CHUK	-	pfam_IKKbetaNEMObind	ENSG00000213341		0.401	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	87	0.00	0	AT	NM_001278		101950666	101950667	-1	no_errors	ENST00000370397	ensembl	human	known	69_37n	frame_shift_del	60	17.81	13	DEL	1.000:1.000	-
CHUK	1147	genome.wustl.edu	37	10	101950666	101950667	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:101950666_101950667delAT	ENST00000370397.7	-	20	2253_2254	c.2167_2168delAT	c.(2167-2169)attfs	p.I724fs	CHUK_ENST00000590930.1_5'UTR|ERLIN1_ENST00000421367.2_5'Flank|RP11-316M21.7_ENST00000443919.1_RNA	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	724					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|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)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|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)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTCATGAATAATAGTGCTTAAA	0.401																																					Ovarian(159;52 1904 10536 35305 37148)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.2167_2168delAT	10.37:g.101950666_101950667delAT	ENSP00000359424:p.Ile724fs		O14666|Q13132|Q5W0I4|Q92467	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,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.I723fs	ENST00000370397.7	37	c.2168_2167	CCDS7488.1	10																																																																																			CHUK	-	pfam_IKKbetaNEMObind	ENSG00000213341		0.401	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	87	0.00	0	AT	NM_001278		101950666	101950667	-1	no_errors	ENST00000370397	ensembl	human	known	69_37n	frame_shift_del	59	25.32	20	DEL	1.000:1.000	-
CLPTM1L	81037	genome.wustl.edu	37	5	1335204	1335204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr5:1335204delA	ENST00000320895.5	-	6	1021	c.764delT	c.(763-765)atgfs	p.M255fs	CLPTM1L_ENST00000320927.6_Frame_Shift_Del_p.M255fs|CLPTM1L_ENST00000507807.1_Frame_Shift_Del_p.M122fs	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	255					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGCGTCCTGCATGTGGATCCA	0.647																																						dbGAP											0													88.0	85.0	86.0					5																	1335204		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.764delT	5.37:g.1335204delA	ENSP00000313854:p.Met255fs		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Frame_Shift_Del	DEL	pfam_CLPTM1	p.M255fs	ENST00000320895.5	37	c.764	CCDS3862.1	5																																																																																			CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.647	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	57	0.00	0	A	NM_030782		1335204	1335204	-1	no_errors	ENST00000320895	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
COL5A1	1289	genome.wustl.edu	37	9	137600641	137600641	+	Intron	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr9:137600641C>A	ENST00000371817.3	+	4	1068				COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		gatttatcctctcccagctct	0.612																																						dbGAP											0													3.0	3.0	3.0					9																	137600641		766	1802	2568	-	-	-	SO:0001627	intron_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.654+7462C>A	9.37:g.137600641C>A			Q15094|Q5SUX4	RNA	SNP	-	NULL	ENST00000371817.3	37	NULL	CCDS6982.1	9																																																																																			COL5A1	-	-	ENSG00000130635		0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	89	0.00	0	C	NM_000093		137600641	137600641	+1	no_errors	ENST00000464187	ensembl	human	known	69_37n	rna	32	11.11	4	SNP	0.003	A
CORO1B	57175	genome.wustl.edu	37	11	67206199	67206199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:67206199delG	ENST00000341356.5	-	10	1397	c.1287delC	c.(1285-1287)cccfs	p.P429fs	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Frame_Shift_Del_p.P429fs|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	429					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGGTGGAGGCGGGGGCCCCTA	0.716																																						dbGAP											0													3.0	4.0	4.0					11																	67206199		1678	3614	5292	-	-	-	SO:0001589	frameshift_variant	0			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1287delC	11.37:g.67206199delG	ENSP00000340211:p.Pro429fs		B2RD45	Frame_Shift_Del	DEL	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A430fs	ENST00000341356.5	37	c.1287	CCDS8164.1	11																																																																																			CORO1B	-	NULL	ENSG00000172725		0.716	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1	39	0.00	0	G	NM_020441		67206199	67206199	-1	no_errors	ENST00000341356	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	0.007	-
COX16	51241	genome.wustl.edu	37	14	70826243	70826243	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr14:70826243G>T	ENST00000389912.6	-	1	205	c.62C>A	c.(61-63)cCc>cAc	p.P21H	SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR|RNU2-51P_ENST00000410708.1_RNA	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	21						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						CACCAACATGGGGACTCCATA	0.547																																						dbGAP											0													86.0	73.0	78.0					14																	70826243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.62C>A	14.37:g.70826243G>T	ENSP00000374562:p.Pro21His		A6NDT5|A8K3X8	Missense_Mutation	SNP	NULL	p.P21H	ENST00000389912.6	37	c.62	CCDS9802.1	14	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640859	0.29157	.	.	ENSG00000133983	ENST00000389912	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	U	0.000016	D	0.84042	0.5385	M	0.90145	3.09	0.51482	D	0.999922	D	0.76494	0.999	D	0.70935	0.971	D	0.86512	0.1810	9	0.87932	D	0	0.0011	14.716	0.69269	0.0:0.0:1.0:0.0	.	21	Q9P0S2	COX16_HUMAN	H	21	.	ENSP00000374562:P21H	P	-	2	0	COX16	69895996	1.000000	0.71417	0.990000	0.47175	0.014000	0.08584	3.588000	0.53964	2.941000	0.99782	0.655000	0.94253	CCC	COX16	-	NULL	ENSG00000133983		0.547	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX16	HGNC	protein_coding	OTTHUMT00000412470.2	38	0.00	0	G	NM_016468		70826243	70826243	-1	no_errors	ENST00000389912	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.994	T
CSNK1G1	53944	genome.wustl.edu	37	15	64496693	64496693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr15:64496693C>A	ENST00000303052.7	-	9	1369	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	CSNK1G1_ENST00000303032.6_Nonsense_Mutation_p.E316*|CTD-2116N17.1_ENST00000606793.1_Nonsense_Mutation_p.E298*|CSNK1G1_ENST00000607537.1_Nonsense_Mutation_p.E316*	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	316					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CCTTTCTTTTCAAAGAGGTCT	0.393																																						dbGAP											0													95.0	96.0	95.0					15																	64496693		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.946G>T	15.37:g.64496693C>A	ENSP00000305777:p.Glu316*		Q5JPH1|Q96AE9|Q9HCP1	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E316*	ENST00000303052.7	37	c.946	CCDS10192.2	15	.	.	.	.	.	.	.	.	.	.	C	40	8.392495	0.98791	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	.	.	.	5.67	4.75	0.60458	.	0.209846	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.3953	0.67007	0.0:0.9297:0.0:0.0703	.	.	.	.	X	316;272;316	.	ENSP00000307753:E316X	E	-	1	0	CSNK1G1	62283746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.094000	0.71431	1.407000	0.46875	0.655000	0.94253	GAA	CSNK1G1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom	ENSG00000169118		0.393	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	CSNK1G1	HGNC	protein_coding	OTTHUMT00000256605.1	61	0.00	0	C	NM_022048		64496693	64496693	-1	no_errors	ENST00000303052	ensembl	human	known	69_37n	nonsense	54	12.90	8	SNP	1.000	A
DHX30	22907	genome.wustl.edu	37	3	47889272	47889272	+	Splice_Site	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:47889272G>T	ENST00000445061.1	+	14	2519	c.2112G>T	c.(2110-2112)gtG>gtT	p.V704V	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Splice_Site_p.V732V|DHX30_ENST00000446256.2_Splice_Site_p.V665V|DHX30_ENST00000348968.4_Splice_Site_p.V676V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	704	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCCCACCAGTGCACTCCAACA	0.527																																						dbGAP											0													83.0	64.0	71.0					3																	47889272		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2111-1G>T	3.37:g.47889272G>T			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V704	ENST00000445061.1	37	c.2112	CCDS2759.1	3																																																																																			DHX30	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000132153		0.527	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	76	0.00	0	G	NM_138615	Silent	47889272	47889272	+1	no_errors	ENST00000445061	ensembl	human	known	69_37n	silent	17	15.00	3	SNP	1.000	T
DMXL1	1657	genome.wustl.edu	37	5	118542574	118542574	+	Intron	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr5:118542574G>T	ENST00000311085.8	+	33	7943				DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Nonsense_Mutation_p.E2637*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATGATGGAGGAGCCAAACAT	0.313																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7863+3443G>T	5.37:g.118542574G>T				Nonsense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2637*	ENST00000311085.8	37	c.7909	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	49	15.567205	0.99838	.	.	ENSG00000172869	ENST00000539542	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	.	.	.	X	2637	.	ENSP00000439479:E2637X	E	+	1	0	DMXL1	118570473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.203000	0.72137	2.937000	0.99478	0.650000	0.86243	GAG	DMXL1	-	NULL	ENSG00000172869		0.313	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	32	0.00	0	G	NM_005509		118542574	118542574	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	nonsense	26	13.33	4	SNP	1.000	T
DYSF	8291	genome.wustl.edu	37	2	71892392	71892392	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:71892392C>T	ENST00000258104.3	+	46	5435	c.5158C>T	c.(5158-5160)Cgt>Tgt	p.R1720C	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.R1728C|DYSF_ENST00000409582.3_Missense_Mutation_p.R1758C|DYSF_ENST00000409651.1_Missense_Mutation_p.R1752C|DYSF_ENST00000410020.3_Missense_Mutation_p.R1759C|DYSF_ENST00000410041.1_Missense_Mutation_p.R1738C|DYSF_ENST00000429174.2_Missense_Mutation_p.R1741C|DYSF_ENST00000413539.2_Missense_Mutation_p.R1751C|DYSF_ENST00000409366.1_Missense_Mutation_p.R1742C|DYSF_ENST00000409762.1_Missense_Mutation_p.R1737C|DYSF_ENST00000394120.2_Missense_Mutation_p.R1721C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1720					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						CCGGACAGACCGTGTAATGTT	0.562																																						dbGAP											0													98.0	96.0	97.0					2																	71892392		2203	4300	6503	-	-	-	SO:0001583	missense	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.5158C>T	2.37:g.71892392C>T	ENSP00000258104:p.Arg1720Cys		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	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.R1751C	ENST00000258104.3	37	c.5251	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762249	0.31228	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83506	-1.72;-1.73;-1.73;-1.73;-1.72;-1.72;-1.72;-1.73;-1.73;-1.73;-1.73	5.41	2.52	0.30459	.	0.562051	0.20511	N	0.090888	D	0.83464	0.5260	M	0.66439	2.03	0.53005	D	0.999963	P;P;P;P;P;P;P;P;B;P;B;P;P;P;P	0.51240	0.919;0.75;0.75;0.901;0.901;0.844;0.943;0.844;0.008;0.75;0.002;0.545;0.901;0.901;0.841	B;B;P;P;P;B;P;P;B;P;B;P;P;P;P	0.50970	0.359;0.399;0.562;0.655;0.655;0.399;0.655;0.562;0.013;0.562;0.013;0.466;0.655;0.655;0.453	T	0.81846	-0.0745	10	0.72032	D	0.01	-3.1987	6.9264	0.24418	0.4361:0.4829:0.0:0.081	.	484;1752;1759;1742;1707;1738;1728;1737;1727;1751;1758;1741;1706;1721;1720	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	C	1751;1737;1758;1741;1720;1752;1721;1728;1742;1759;1738	ENSP00000407046:R1751C;ENSP00000387137:R1737C;ENSP00000386547:R1758C;ENSP00000398305:R1741C;ENSP00000258104:R1720C;ENSP00000386683:R1752C;ENSP00000377678:R1721C;ENSP00000386285:R1728C;ENSP00000386512:R1742C;ENSP00000386881:R1759C;ENSP00000386617:R1738C	ENSP00000258104:R1720C	R	+	1	0	DYSF	71745900	0.187000	0.23238	0.613000	0.29037	0.229000	0.25112	0.216000	0.17585	0.650000	0.30769	-0.152000	0.13540	CGT	DYSF	-	NULL	ENSG00000135636		0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	91	0.00	0	C	NM_003494		71892392	71892392	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	29	11.76	4	SNP	0.730	T
EEF2K	29904	genome.wustl.edu	37	16	22237275	22237275	+	Silent	SNP	G	G	T	rs376491451		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:22237275G>T	ENST00000263026.5	+	2	699	c.225G>T	c.(223-225)ccG>ccT	p.P75P		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	75			P -> A (in dbSNP:rs17841292). {ECO:0000269|PubMed:17344846}.		insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCGGGTCCCCGGCAAACTCCT	0.527																																					NSCLC(195;1411 2157 20319 27471 51856)	dbGAP											0													64.0	61.0	62.0					16																	22237275		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.225G>T	16.37:g.22237275G>T			Q8N588	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.P75	ENST00000263026.5	37	c.225	CCDS10604.1	16																																																																																			EEF2K	-	superfamily_Kinase-like_dom,pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.527	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	74	0.00	0	G	NM_013302		22237275	22237275	+1	no_errors	ENST00000263026	ensembl	human	known	69_37n	silent	36	14.29	6	SNP	0.001	T
EIF3G	8666	genome.wustl.edu	37	19	10229612	10229612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:10229612C>A	ENST00000253108.4	-	4	214	c.172G>T	c.(172-174)Gag>Tag	p.E58*	EIF3G_ENST00000587168.1_5'UTR	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)			TTGATGACCTCCTTGGGAGGC	0.577																																					Colon(124;1100 1638 3822 4510 4876)	dbGAP											0													102.0	75.0	84.0					19																	10229612		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.172G>T	19.37:g.10229612C>A	ENSP00000253108:p.Glu58*			Nonsense_Mutation	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	p.E58*	ENST00000253108.4	37	c.172	CCDS12227.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.388801	0.97529	.	.	ENSG00000130811	ENST00000253108	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-31.6967	17.1912	0.86880	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000253108:E58X	E	-	1	0	EIF3G	10090612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.133000	0.64764	2.350000	0.79820	0.655000	0.94253	GAG	EIF3G	-	pfam_eIF3g_N,pirsf_Transl_init_eIF-3_G	ENSG00000130811		0.577	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000451144.1	73	0.00	0	C			10229612	10229612	-1	no_errors	ENST00000253108	ensembl	human	known	69_37n	nonsense	54	11.48	7	SNP	1.000	A
EXOC6	54536	genome.wustl.edu	37	10	94654759	94654760	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:94654759_94654760insA	ENST00000260762.6	+	4	408_409	c.394_395insA	c.(394-396)ttgfs	p.L132fs	EXOC6_ENST00000371552.4_Frame_Shift_Ins_p.L127fs|EXOC6_ENST00000371547.4_Frame_Shift_Ins_p.L148fs|EXOC6_ENST00000371543.1_Frame_Shift_Ins_p.L132fs|EXOC6_ENST00000443748.2_Frame_Shift_Ins_p.L132fs	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	132					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGTAGAAAAATTGCAGTTATGC	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	Exception_encountered	10.37:g.94654759_94654760insA	ENSP00000260762:p.Leu132fs		E9PHI3|Q5VXH8|Q9NZ24	Frame_Shift_Ins	INS	pfam_Sec15,pirsf_Sec15	p.L148fs	ENST00000260762.6	37	c.442_443	CCDS7424.2	10																																																																																			EXOC6	-	pirsf_Sec15	ENSG00000138190		0.322	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	29	0.00	0	-	NM_019053		94654759	94654760	+1	no_errors	ENST00000371547	ensembl	human	known	69_37n	frame_shift_ins	17	19.05	4	INS	1.000:1.000	A
FAM221A	340277	genome.wustl.edu	37	7	23740474	23740474	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr7:23740474G>A	ENST00000344962.4	+	6	904	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	FAM221A_ENST00000409653.1_Missense_Mutation_p.R214Q|FAM221A_ENST00000483090.1_3'UTR|FAM221A_ENST00000409192.3_Missense_Mutation_p.R236Q|FAM221A_ENST00000409994.3_Missense_Mutation_p.R178Q	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	272																	TTTGAAAGACGATACCAGGAA	0.348																																						dbGAP											0													145.0	165.0	158.0					7																	23740474		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.815G>A	7.37:g.23740474G>A	ENSP00000342576:p.Arg272Gln		Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	NULL	p.R272Q	ENST00000344962.4	37	c.815	CCDS5385.1	7	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586441	0.46110	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.21543	2.0;2.22;2.22;2.03	6.01	3.21	0.36854	.	0.160446	0.41712	N	0.000828	T	0.13798	0.0334	L	0.50919	1.6	0.31157	N	0.704791	B;B;P	0.44344	0.135;0.244;0.833	B;B;B	0.28553	0.012;0.042;0.091	T	0.14144	-1.0483	10	0.38643	T	0.18	-3.2261	8.7044	0.34345	0.2972:0.0:0.7028:0.0	.	178;236;272	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	Q	236;272;214;178	ENSP00000386927:R236Q;ENSP00000342576:R272Q;ENSP00000386900:R214Q;ENSP00000386631:R178Q	ENSP00000342576:R272Q	R	+	2	0	C7orf46	23706999	0.554000	0.26522	0.997000	0.53966	0.952000	0.60782	0.859000	0.27858	0.417000	0.25871	-0.142000	0.14014	CGA	FAM221A	-	NULL	ENSG00000188732		0.348	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM221A	HGNC	protein_coding	OTTHUMT00000250261.1	26	0.00	0	G	NM_199136		23740474	23740474	+1	no_errors	ENST00000344962	ensembl	human	known	69_37n	missense	16	15.79	3	SNP	0.979	A
FAM27L	284123	genome.wustl.edu	37	17	21825380	21825380	+	lincRNA	SNP	G	G	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr17:21825380G>A	ENST00000426869.3	+	0	84					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ctgaggcttcgcaaagcagga	0.622																																						dbGAP											0																																										-	-	-			0			BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825380G>A				RNA	SNP	-	NULL	ENST00000426869.3	37	NULL		17																																																																																			FAM27L	-	-	ENSG00000178130		0.622	FAM27L-001	KNOWN	basic	lincRNA	FAM27L	HGNC	lincRNA	OTTHUMT00000389059.2	115	0.00	0	G	NM_203392		21825380	21825380	+1	no_errors	ENST00000426869	ensembl	human	known	69_37n	rna	93	19.83	23	SNP	0.009	A
FAM71E2	284418	genome.wustl.edu	37	19	55870339	55870339	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:55870339delG	ENST00000424985.3	-	9	2090	c.1897delC	c.(1897-1899)ctgfs	p.L633fs	CTD-2105E13.6_ENST00000591954.3_Frame_Shift_Del_p.P182fs	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	633										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						AAGGCCTCCAGGGTCACCTCC	0.612																																						dbGAP											0													50.0	48.0	49.0					19																	55870339		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.1897delC	19.37:g.55870339delG	ENSP00000398617:p.Leu633fs		Q8ND99	Frame_Shift_Del	DEL	pfam_DUF3699	p.L633fs	ENST00000424985.3	37	c.1897		19																																																																																			FAM71E2	-	NULL	ENSG00000180043		0.612	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	FAM71E2	HGNC	protein_coding	OTTHUMT00000409063.4	65	0.00	0	G	NM_001145402		55870339	55870339	-1	no_errors	ENST00000424985	ensembl	human	novel	69_37n	frame_shift_del	15	11.76	2	DEL	0.000	-
FAM86B1	85002	genome.wustl.edu	37	8	12040796	12040796	+	3'UTR	SNP	G	G	A	rs370731403		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr8:12040796G>A	ENST00000448228.2	-	0	1259				FAM86B1_ENST00000533852.2_3'UTR|FAM86B1_ENST00000321602.8_3'UTR|AC145124.1_ENST00000579282.1_RNA	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1											kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CTGAGGAACCGAGTGTGTCCA	0.498																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.*319C>T	8.37:g.12040796G>A				RNA	SNP	-	NULL	ENST00000448228.2	37	NULL	CCDS59512.1	8																																																																																			FAM86B1	-	-	ENSG00000186523		0.498	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	20	0.00	0	G	NM_032916		12040796	12040796	-1	no_errors	ENST00000529146	ensembl	human	known	69_37n	rna	11	35.29	6	SNP	0.005	A
FANCC	2176	genome.wustl.edu	37	9	97876924	97876924	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr9:97876924C>T	ENST00000289081.3	-	12	1395	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	FANCC_ENST00000464653.1_5'UTR|FANCC_ENST00000375305.1_Missense_Mutation_p.D381N|RP11-80I15.4_ENST00000423075.1_RNA	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	381					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGAGTCTGGTCTTCAACTGCT	0.517			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	0													195.0	174.0	181.0					9																	97876924		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1141G>A	9.37:g.97876924C>T	ENSP00000289081:p.Asp381Asn		B1ALR8	Missense_Mutation	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.D381N	ENST00000289081.3	37	c.1141	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797468	0.70567	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.54675	0.56;0.56	5.23	4.33	0.51752	.	0.604415	0.18940	N	0.126946	T	0.61311	0.2337	M	0.62723	1.935	0.33304	D	0.565237	D	0.58268	0.982	P	0.57620	0.824	T	0.68032	-0.5516	10	0.26408	T	0.33	-0.2367	11.0022	0.47614	0.0:0.9137:0.0:0.0863	.	381	Q00597	FANCC_HUMAN	N	381	ENSP00000289081:D381N;ENSP00000364454:D381N	ENSP00000289081:D381N	D	-	1	0	FANCC	96916745	0.966000	0.33281	0.402000	0.26371	0.409000	0.31022	2.281000	0.43452	1.579000	0.49836	0.655000	0.94253	GAC	FANCC	-	pfam_Fanconi,pirsf_Fanconi	ENSG00000158169		0.517	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	88	0.00	0	C	NM_000136		97876924	97876924	-1	no_errors	ENST00000289081	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	0.906	T
FAT4	79633	genome.wustl.edu	37	4	126328152	126328153	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr4:126328152_126328153AA>TT	ENST00000394329.3	+	3	5438_5439	c.5425_5426AA>TT	c.(5425-5427)AAa>TTa	p.K1809L	FAT4_ENST00000335110.5_Missense_Mutation_p.K107L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1809	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						ACGCCGCTCCAAATATTCACTG	0.455																																						dbGAP											0																																										-	-	-	SO:0001583	missense	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	Exception_encountered	4.37:g.126328152_126328153delinsTT	ENSP00000377862:p.Lys1809Leu		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation|Missense_Mutation	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.K1809*|p.K1809I	ENST00000394329.3	37	c.5425|c.5426	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.455	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	102|101	0.00	0	A	NM_024582		126328152|126328153	126328152|126328153	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	nonsense|missense	51	10.53	6	SNP	1.000	T
FATE1	89885	genome.wustl.edu	37	X	150890386	150890386	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:150890386C>T	ENST00000370350.3	+	4	438	c.353C>T	c.(352-354)aCa>aTa	p.T118I		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	118						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAGGGACAGATGCAGTG	0.552																																						dbGAP											0													176.0	165.0	169.0					X																	150890386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.353C>T	X.37:g.150890386C>T	ENSP00000359375:p.Thr118Ile			Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.T118I	ENST00000370350.3	37	c.353	CCDS14700.1	X	.	.	.	.	.	.	.	.	.	.	C	5.471	0.271907	0.10349	.	.	ENSG00000147378	ENST00000370350	T	0.40756	1.02	4.34	-1.09	0.09904	.	3.300270	0.00721	N	0.000889	T	0.26702	0.0653	N	0.19112	0.55	0.09310	N	1	B	0.21688	0.059	B	0.22880	0.042	T	0.07809	-1.0753	10	0.23302	T	0.38	5.3697	3.9806	0.09493	0.0:0.32:0.3453:0.3347	.	118	Q969F0	FATE1_HUMAN	I	118	ENSP00000359375:T118I	ENSP00000359375:T118I	T	+	2	0	FATE1	150641042	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.225000	0.01212	-0.147000	0.11254	0.529000	0.55759	ACA	FATE1	-	pfam_FATE/Miff/Tango-11	ENSG00000147378		0.552	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FATE1	HGNC	protein_coding	OTTHUMT00000060885.1	76	0.00	0	C	NM_033085		150890386	150890386	+1	no_errors	ENST00000370350	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	0.000	T
FATE1	89885	genome.wustl.edu	37	X	150890386	150890386	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:150890386C>T	ENST00000370350.3	+	4	438	c.353C>T	c.(352-354)aCa>aTa	p.T118I		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	118						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAGGGACAGATGCAGTG	0.552																																						dbGAP											0													176.0	165.0	169.0					X																	150890386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.353C>T	X.37:g.150890386C>T	ENSP00000359375:p.Thr118Ile			Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.T118I	ENST00000370350.3	37	c.353	CCDS14700.1	X	.	.	.	.	.	.	.	.	.	.	C	5.471	0.271907	0.10349	.	.	ENSG00000147378	ENST00000370350	T	0.40756	1.02	4.34	-1.09	0.09904	.	3.300270	0.00721	N	0.000889	T	0.26702	0.0653	N	0.19112	0.55	0.09310	N	1	B	0.21688	0.059	B	0.22880	0.042	T	0.07809	-1.0753	10	0.23302	T	0.38	5.3697	3.9806	0.09493	0.0:0.32:0.3453:0.3347	.	118	Q969F0	FATE1_HUMAN	I	118	ENSP00000359375:T118I	ENSP00000359375:T118I	T	+	2	0	FATE1	150641042	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.225000	0.01212	-0.147000	0.11254	0.529000	0.55759	ACA	FATE1	-	pfam_FATE/Miff/Tango-11	ENSG00000147378		0.552	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FATE1	HGNC	protein_coding	OTTHUMT00000060885.1	76	0.00	0	C	NM_033085		150890386	150890386	+1	no_errors	ENST00000370350	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.000	T
FHOD3	80206	genome.wustl.edu	37	18	34320619	34320619	+	Splice_Site	DEL	A	A	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr18:34320619delA	ENST00000359247.4	+	17	3001	c.3001delA	c.(3001-3003)aaa>aa	p.K1001fs	FHOD3_ENST00000591635.1_Splice_Site_p.K214fs|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000257209.4_Splice_Site_p.K1018fs|FHOD3_ENST00000445677.1_Splice_Site_p.K980fs|FHOD3_ENST00000590592.1_Splice_Site_p.K1193fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1001	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTATTTCCAGAAAATTCTAAC	0.428																																						dbGAP											0													39.0	38.0	38.0					18																	34320619		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3001-1A>-	18.37:g.34320619delA			A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.I1019fs	ENST00000359247.4	37	c.3052		18																																																																																			FHOD3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000134775		0.428	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	45	0.00	0	A	XM_371114	Frame_Shift_Del	34320619	34320619	+1	no_errors	ENST00000257209	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	1.000	-
GABRA6	2559	genome.wustl.edu	37	5	161113308	161113308	+	Silent	SNP	C	C	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr5:161113308C>T	ENST00000274545.5	+	2	544	c.111C>T	c.(109-111)gaC>gaT	p.D37D	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Silent_p.D37D			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	37					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGATCCTGGACAACTTGCTTG	0.478										TCGA Ovarian(5;0.080)																												dbGAP											0													111.0	114.0	113.0					5																	161113308		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.111C>T	5.37:g.161113308C>T			A8K096|Q4VAV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.D37	ENST00000274545.5	37	c.111	CCDS4356.1	5																																																																																			GABRA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000145863		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	80	0.00	0	C			161113308	161113308	+1	no_errors	ENST00000274545	ensembl	human	known	69_37n	silent	31	11.43	4	SNP	1.000	T
GNL3	26354	genome.wustl.edu	37	3	52727527	52727527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:52727527G>T	ENST00000418458.1	+	12	1464	c.1291G>T	c.(1291-1293)Gaa>Taa	p.E431*	GNL3_ENST00000394799.2_Nonsense_Mutation_p.E419*|GLT8D1_ENST00000463827.1_5'Flank|SNORD19B_ENST00000459623.1_RNA|SNORD69_ENST00000391150.1_RNA|SNORD19_ENST00000410413.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	431	Intermediate. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CAATCTGGAAGAACTGGAAAA	0.443																																						dbGAP											0													163.0	169.0	167.0					3																	52727527		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1291G>T	3.37:g.52727527G>T	ENSP00000395772:p.Glu431*		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Nonsense_Mutation	SNP	pfam_Gnl3_N_dom,pfam_GTP_binding_domain	p.E431*	ENST00000418458.1	37	c.1291	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.195292	0.97367	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	.	.	.	5.87	2.87	0.33458	.	0.641237	0.17859	N	0.159599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	10.0365	0.42131	0.0:0.4231:0.4317:0.1452	.	.	.	.	X	431;419	.	ENSP00000378278:E419X	E	+	1	0	GNL3	52702567	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	2.818000	0.48041	0.769000	0.33313	0.563000	0.77884	GAA	GNL3	-	NULL	ENSG00000163938		0.443	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1	107	0.00	0	G	NM_014366		52727527	52727527	+1	no_errors	ENST00000418458	ensembl	human	known	69_37n	nonsense	35	52.05	38	SNP	0.980	T
GOLGA6L6	727832	genome.wustl.edu	37	15	20740357	20740358	+	In_Frame_Ins	INS	-	-	CTC			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr15:20740357_20740358insCTC	ENST00000427390.2	-	8	1482_1483	c.1392_1393insGAG	c.(1390-1395)gagaag>gagGAGaag	p.464_465insE		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	464	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						tcccgtatcttctcctgctcgt	0.535																																						dbGAP											0										10,1072		2,6,533							0.0			4	34,2128		5,24,1052	no	coding	GOLGA6L6	NM_001145004.1		7,30,1585	A1A1,A1R,RR		1.5726,0.9242,1.3564				44,3200				-	-	-	SO:0001652	inframe_insertion	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1390_1392dupGAG	15.37:g.20740358_20740360dupCTC	ENSP00000398615:p.Glu464_Glu464dup		D3YTC0	In_Frame_Ins	INS	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.464in_frame_insE	ENST00000427390.2	37	c.1393_1392	CCDS45184.1	15																																																																																			GOLGA6L6	-	NULL	ENSG00000215405		0.535	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	111	0.00	0	-	NM_001145004		20740357	20740358	-1	no_errors	ENST00000427390	ensembl	human	known	69_37n	in_frame_ins	56	11.11	7	INS	0.398:0.277	CTC
HSPBAP1	79663	genome.wustl.edu	37	3	122471505	122471505	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:122471505C>A	ENST00000306103.2	-	6	901	c.758G>T	c.(757-759)aGa>aTa	p.R253I	HSPBAP1_ENST00000465044.1_5'Flank|HSPBAP1_ENST00000383659.1_3'UTR|snoU13_ENST00000459192.1_RNA	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	253	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CCACCAGTGTCTGGGAACAAA	0.373																																						dbGAP											0													85.0	82.0	83.0					3																	122471505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.758G>T	3.37:g.122471505C>A	ENSP00000302562:p.Arg253Ile		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.R253I	ENST00000306103.2	37	c.758	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501394	0.85176	.	.	ENSG00000169087	ENST00000306103	T	0.13538	2.58	5.18	5.18	0.71444	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.043251	0.85682	D	0.000000	T	0.31918	0.0812	L	0.58428	1.81	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.00398	-1.1764	10	0.44086	T	0.13	.	13.2438	0.60012	0.0:0.9215:0.0:0.0784	.	253	Q96EW2	HBAP1_HUMAN	I	253	ENSP00000302562:R253I	ENSP00000302562:R253I	R	-	2	0	HSPBAP1	123954195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.288000	0.59007	2.706000	0.92434	0.650000	0.86243	AGA	HSPBAP1	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000169087		0.373	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	39	0.00	0	C	NM_024610		122471505	122471505	-1	no_errors	ENST00000306103	ensembl	human	known	69_37n	missense	70	10.26	8	SNP	1.000	A
ITGAV	3685	genome.wustl.edu	37	2	187455156	187455156	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:187455156delT	ENST00000261023.3	+	1	365	c.91delT	c.(91-93)ttcfs	p.F31fs	ITGAV_ENST00000374907.3_Frame_Shift_Del_p.F31fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	31					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GTGCCGCGCCTTCAACCTAGA	0.647																																					Melanoma(58;108 1995 6081)	dbGAP											0													39.0	44.0	42.0					2																	187455156		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.91delT	2.37:g.187455156delT	ENSP00000261023:p.Phe31fs		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.F31fs	ENST00000261023.3	37	c.91	CCDS2292.1	2																																																																																			ITGAV	-	NULL	ENSG00000138448		0.647	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	10	0.00	0	T	NM_002210		187455156	187455156	+1	no_errors	ENST00000261023	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
KBTBD12	166348	genome.wustl.edu	37	3	127649120	127649120	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:127649120G>A	ENST00000405109.1	+	4	1953	c.1486G>A	c.(1486-1488)Gtt>Att	p.V496I	KBTBD12_ENST00000405256.1_Missense_Mutation_p.V496I|KBTBD12_ENST00000407609.3_Missense_Mutation_p.V103I|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.V71I			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	496										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGAGATTTATGTTTTGGGTAA	0.418																																						dbGAP											0													60.0	54.0	56.0					3																	127649120		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1486G>A	3.37:g.127649120G>A	ENSP00000385957:p.Val496Ile		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V496I	ENST00000405109.1	37	c.1486	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692949	0.88735	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;T	0.71222	-0.34;-0.34;-0.34;-0.55	5.92	5.92	0.95590	Kelch-type beta propeller (1);	0.000000	0.51477	D	0.000081	T	0.81375	0.4809	L	0.48260	1.515	0.80722	D	1	P;D	0.67145	0.543;0.996	B;D	0.77557	0.306;0.99	T	0.79769	-0.1664	10	0.49607	T	0.09	.	20.3088	0.98641	0.0:0.0:1.0:0.0	.	496;71	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	I	496;103;496;71	ENSP00000385957:V496I;ENSP00000385830:V103I;ENSP00000385879:V496I;ENSP00000345478:V71I	ENSP00000345478:V71I	V	+	1	0	KBTBD12	129131810	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.476000	0.97823	2.805000	0.96524	0.579000	0.79373	GTT	KBTBD12	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000187715		0.418	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	28	0.00	0	G	NM_207335		127649120	127649120	+1	no_errors	ENST00000405109	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	A
KBTBD12	166348	genome.wustl.edu	37	3	127649123	127649123	+	Silent	SNP	T	T	C			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:127649123T>C	ENST00000405109.1	+	4	1956	c.1489T>C	c.(1489-1491)Ttg>Ctg	p.L497L	KBTBD12_ENST00000405256.1_Silent_p.L497L|KBTBD12_ENST00000407609.3_Silent_p.L104L|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Silent_p.L72L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	497										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GATTTATGTTTTGGGTAAGAA	0.423																																						dbGAP											0													58.0	53.0	54.0					3																	127649123		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1489T>C	3.37:g.127649123T>C			B5MCC6|Q6ZRK1	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.L497	ENST00000405109.1	37	c.1489	CCDS33848.2	3																																																																																			KBTBD12	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000187715		0.423	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	28	0.00	0	T	NM_207335		127649123	127649123	+1	no_errors	ENST00000405109	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	0.134	C
KCNF1	3754	genome.wustl.edu	37	2	11053040	11053040	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:11053040G>A	ENST00000295082.1	+	1	978	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	163					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGCTGGCGCCGCTGCCAGAAG	0.697																																						dbGAP											0													27.0	37.0	34.0					2																	11053040		2188	4274	6462	-	-	-	SO:0001583	missense	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.488G>A	2.37:g.11053040G>A	ENSP00000295082:p.Arg163His		O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.R163H	ENST00000295082.1	37	c.488	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884517	0.51908	.	.	ENSG00000162975	ENST00000295082	D	0.98280	-4.84	5.19	4.29	0.51040	.	0.156077	0.50627	D	0.000113	D	0.95227	0.8452	L	0.49126	1.545	0.47994	D	0.999566	P	0.43633	0.813	B	0.32864	0.154	D	0.94513	0.7720	10	0.54805	T	0.06	.	10.5296	0.44969	0.1768:0.0:0.8232:0.0	.	163	Q9H3M0	KCNF1_HUMAN	H	163	ENSP00000295082:R163H	ENSP00000295082:R163H	R	+	2	0	KCNF1	10970491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.714000	0.61902	2.564000	0.86499	0.563000	0.77884	CGC	KCNF1	-	NULL	ENSG00000162975		0.697	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	165	0.00	0	G	NM_002236		11053040	11053040	+1	no_errors	ENST00000295082	ensembl	human	known	69_37n	missense	105	25.35	36	SNP	1.000	A
KLC1	3831	genome.wustl.edu	37	14	104145712	104145712	+	Intron	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr14:104145712G>T	ENST00000348520.6	+	13	1807				KLC1_ENST00000246489.7_Intron|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000445352.4_Intron|RP11-73M18.2_ENST00000472726.2_Intron|KLC1_ENST00000347839.6_Intron|KLC1_ENST00000553286.1_Intron|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000380038.3_Missense_Mutation_p.G519C|KLC1_ENST00000452929.2_Intron|KLC1_ENST00000557575.1_Intron|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000389744.4_Intron|RP11-894P9.1_ENST00000498989.2_RNA	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TCCCCTGCCTGGCTCACAGGG	0.438																																						dbGAP											0													93.0	91.0	92.0					14																	104145712		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1489-9G>T	14.37:g.104145712G>T			A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.G519C	ENST00000348520.6	37	c.1555	CCDS41996.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.802|6.802	0.516969|0.516969	0.13005|0.13005	.|.	.|.	ENSG00000126214|ENSG00000126214	ENST00000380038|ENST00000537046	D|.	0.83250|.	-1.7|.	5.39|5.39	2.45|2.45	0.29901|0.29901	.|.	.|.	.|.	.|.	.|.	T|T	0.32071|0.32071	0.0817|0.0817	.|.	.|.	.|.	0.21802|0.21802	N|N	0.999539|0.999539	B|.	0.30542|.	0.284|.	B|.	0.29663|.	0.105|.	T|T	0.21314|0.21314	-1.0249|-1.0249	8|4	0.56958|.	D|.	0.05|.	.|.	6.4072|6.4072	0.21670|0.21670	0.1637:0.2826:0.5537:0.0|0.1637:0.2826:0.5537:0.0	.|.	519|.	F8W6L3|.	.|.	C|L	519|124	ENSP00000369377:G519C|.	ENSP00000369377:G519C|.	G|W	+|+	1|2	0|0	KLC1|KLC1	103215465|103215465	0.008000|0.008000	0.16893|0.16893	0.011000|0.011000	0.14972|0.14972	0.116000|0.116000	0.19942|0.19942	1.457000|1.457000	0.35212|0.35212	0.225000|0.225000	0.20959|0.20959	-0.182000|-0.182000	0.12963|0.12963	GGC|TGG	KLC1	-	NULL	ENSG00000126214		0.438	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	37	0.00	0	G	NM_005552		104145712	104145712	+1	no_errors	ENST00000380038	ensembl	human	novel	69_37n	missense	23	11.54	3	SNP	0.297	T
KRT1	3848	genome.wustl.edu	37	12	53073950	53073950	+	Silent	SNP	T	T	G			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:53073950T>G	ENST00000252244.3	-	1	241	c.183A>C	c.(181-183)ggA>ggC	p.G61G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	61	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GACTTCCAAATccaccaccag	0.552																																						dbGAP											0													183.0	182.0	182.0					12																	53073950		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.183A>C	12.37:g.53073950T>G			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G61	ENST00000252244.3	37	c.183	CCDS8836.1	12																																																																																			KRT1	-	NULL	ENSG00000167768		0.552	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	270	0.73	2	T	NM_006121		53073950	53073950	-1	no_errors	ENST00000252244	ensembl	human	known	69_37n	silent	128	10.49	15	SNP	0.142	G
KRT1	3848	genome.wustl.edu	37	12	53073970	53073970	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:53073970T>C	ENST00000252244.3	-	1	221	c.163A>G	c.(163-165)Agc>Ggc	p.S55G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	55	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						gcaccaaagctaccaccacca	0.552																																						dbGAP											0													128.0	127.0	127.0					12																	53073970		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.163A>G	12.37:g.53073970T>C	ENSP00000252244:p.Ser55Gly		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S55G	ENST00000252244.3	37	c.163	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.892825	0.00522	.	.	ENSG00000167768	ENST00000252244	T	0.73047	-0.71	1.97	-1.55	0.08558	.	.	.	.	.	T	0.33990	0.0882	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26985	-1.0087	9	0.06099	T	0.92	.	0.8599	0.01190	0.1581:0.176:0.2992:0.3668	.	55	P04264	K2C1_HUMAN	G	55	ENSP00000252244:S55G	ENSP00000252244:S55G	S	-	1	0	KRT1	51360237	0.045000	0.20229	0.001000	0.08648	0.347000	0.29111	0.797000	0.26999	-0.230000	0.09840	-0.415000	0.06103	AGC	KRT1	-	NULL	ENSG00000167768		0.552	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	231	0.86	2	T	NM_006121		53073970	53073970	-1	no_errors	ENST00000252244	ensembl	human	known	69_37n	missense	106	18.46	24	SNP	0.001	C
KRT17P1	147228	genome.wustl.edu	37	17	16746881	16746881	+	RNA	SNP	C	C	T	rs79451042	byFrequency	TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr17:16746881C>T	ENST00000580363.1	-	0	620									keratin 17 pseudogene 1											lung(4)	4						AATCCCAGTGCGCCTGCTCTG	0.627													c|||	1353	0.270168	0.2708	0.3285	5008	,	,		13401	0.0556		0.4036	False		,,,				2504	0.3119					dbGAP											0																																										-	-	-			0					17p11.2	2013-06-25			ENSG00000131885	ENSG00000131885			6428	pseudogene	pseudogene						1281771	Standard	NG_002775		Approved				OTTHUMG00000059175		17.37:g.16746881C>T				RNA	SNP	-	NULL	ENST00000580363.1	37	NULL		17																																																																																			KRT17P1	-	-	ENSG00000131885		0.627	KRT17P1-003	KNOWN	basic	processed_transcript	KRT17P1	HGNC	pseudogene	OTTHUMT00000444292.1	33	0.00	0	C			16746881	16746881	-1	no_errors	ENST00000577449	ensembl	human	putative	69_37n	rna	7	36.36	4	SNP	0.004	T
KRTAP5-5	439915	genome.wustl.edu	37	11	1651241	1651241	+	Silent	SNP	A	A	C			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:1651241A>C	ENST00000399676.2	+	1	209	c.171A>C	c.(169-171)ggA>ggC	p.G57G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	57						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtgggggatgtggctccg	0.682																																						dbGAP											0													47.0	59.0	55.0					11																	1651241		2188	4272	6460	-	-	-	SO:0001819	synonymous_variant	0			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.171A>C	11.37:g.1651241A>C			A8MWN2	Silent	SNP	NULL	p.G57	ENST00000399676.2	37	c.171	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL	ENSG00000185940		0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1	112	0.00	0	A			1651241	1651241	+1	no_errors	ENST00000399676	ensembl	human	known	69_37n	silent	70	11.25	9	SNP	0.753	C
LRRC8A	56262	genome.wustl.edu	37	9	131669619	131669619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr9:131669619delG	ENST00000259324.5	+	3	699	c.176delG	c.(175-177)tggfs	p.W59fs	LRRC8A_ENST00000372600.4_Frame_Shift_Del_p.W59fs|LRRC8A_ENST00000372599.3_Frame_Shift_Del_p.W59fs	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	59					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCTTGTAAGTGGGTCACCAAG	0.592																																						dbGAP											0													76.0	66.0	69.0					9																	131669619		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.176delG	9.37:g.131669619delG	ENSP00000259324:p.Trp59fs		Q6UXM2|Q8NCI0|Q9P2B1	Frame_Shift_Del	DEL	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V60fs	ENST00000259324.5	37	c.176	CCDS35155.1	9																																																																																			LRRC8A	-	pfam_LRR_protein-8_N	ENSG00000136802		0.592	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	38	0.00	0	G	NM_019594		131669619	131669619	+1	no_errors	ENST00000259324	ensembl	human	known	69_37n	frame_shift_del	8	20.00	2	DEL	1.000	-
LRRC9	341883	genome.wustl.edu	37	14	60426719	60426719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr14:60426719delA	ENST00000445360.1	+	9	1270	c.1066delA	c.(1066-1068)aaafs	p.K357fs				Q6ZRR7	LRRC9_HUMAN	leucine rich repeat containing 9	357																	ATTCTGGAACAAAAAACTAGA	0.368																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK128037		14q23.1	2013-01-29	2003-11-19		ENSG00000131951	ENSG00000131951			19848	other	unknown			"""leucine-rich repeat-containing 9"""				Standard	NR_075071		Approved	FLJ46156	uc001xep.1	Q6ZRR7	OTTHUMG00000028948	ENST00000445360.1:c.1066delA	14.37:g.60426719delA	ENSP00000454748:p.Lys357fs			Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K357fs	ENST00000445360.1	37	c.1066		14																																																																																			LRRC9	-	NULL	ENSG00000131951		0.368	LRRC9-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC9	HGNC	protein_coding	OTTHUMT00000072281.3	25	0.00	0	A			60426719	60426719	+1	no_errors	ENST00000254271	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
LTN1	26046	genome.wustl.edu	37	21	30318544	30318544	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr21:30318544G>T	ENST00000361371.5	-	20	3632	c.3553C>A	c.(3553-3555)Cta>Ata	p.L1185I	LTN1_ENST00000389194.2_Missense_Mutation_p.L1231I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1185					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						CCATGTAATAGCTCTCCATCA	0.284																																						dbGAP											0													70.0	75.0	74.0					21																	30318544		2201	4292	6493	-	-	-	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.3553C>A	21.37:g.30318544G>T	ENSP00000354977:p.Leu1185Ile		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.L1185I	ENST00000361371.5	37	c.3553		21	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064646	0.01934	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.19105	2.17;2.18	4.99	-1.86	0.07760	.	0.694765	0.13219	N	0.404532	T	0.08268	0.0206	N	0.11201	0.11	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.36841	-0.9731	10	0.19147	T	0.46	.	5.7801	0.18301	0.3566:0.0:0.4704:0.173	.	1185	O94822	LTN1_HUMAN	I	1231;1185	ENSP00000373846:L1231I;ENSP00000354977:L1185I	ENSP00000354977:L1185I	L	-	1	2	LTN1	29240415	0.001000	0.12720	0.964000	0.40570	0.718000	0.41266	0.085000	0.14912	-0.179000	0.10654	-0.225000	0.12378	CTA	LTN1	-	NULL	ENSG00000198862		0.284	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	20	0.00	0	G	NM_015565		30318544	30318544	-1	no_errors	ENST00000361371	ensembl	human	known	69_37n	missense	9	25.00	3	SNP	0.005	T
MAGEB16	139604	genome.wustl.edu	37	X	35821240	35821240	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:35821240T>G	ENST00000399989.1	+	2	1206	c.927T>G	c.(925-927)taT>taG	p.Y309*	MAGEB16_ENST00000399987.1_Nonsense_Mutation_p.Y309*|MAGEB16_ENST00000399992.1_Nonsense_Mutation_p.Y341*|MAGEB16_ENST00000399985.1_Nonsense_Mutation_p.Y309*|MAGEB16_ENST00000399988.1_Nonsense_Mutation_p.Y309*	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	309	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CATCTCAGTATGCGGAAGCTC	0.498																																						dbGAP											0													21.0	22.0	22.0					X																	35821240		2183	4287	6470	-	-	-	SO:0001587	stop_gained	0				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.927T>G	X.37:g.35821240T>G	ENSP00000382871:p.Tyr309*		A8MU30	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Y341*	ENST00000399989.1	37	c.1023	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632720	0.67015	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	.	.	.	3.13	0.606	0.17559	.	0.275088	0.36628	N	0.002482	.	.	.	.	.	.	0.30013	N	0.815031	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7022	0.12832	0.0:0.3003:0.0:0.6997	.	.	.	.	X	309;341;309;309;309	.	ENSP00000382867:Y309X	Y	+	3	2	MAGEB16	35731161	0.982000	0.34865	0.090000	0.20809	0.112000	0.19704	0.442000	0.21628	0.039000	0.15632	0.423000	0.28283	TAT	MAGEB16	-	pfscan_MAGE	ENSG00000189023		0.498	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	55	0.00	0	T			35821240	35821240	+1	no_errors	ENST00000399992	ensembl	human	known	69_37n	nonsense	34	10.53	4	SNP	0.089	G
MAGEB16	139604	genome.wustl.edu	37	X	35821240	35821240	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:35821240T>G	ENST00000399989.1	+	2	1206	c.927T>G	c.(925-927)taT>taG	p.Y309*	MAGEB16_ENST00000399987.1_Nonsense_Mutation_p.Y309*|MAGEB16_ENST00000399992.1_Nonsense_Mutation_p.Y341*|MAGEB16_ENST00000399985.1_Nonsense_Mutation_p.Y309*|MAGEB16_ENST00000399988.1_Nonsense_Mutation_p.Y309*	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	309	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CATCTCAGTATGCGGAAGCTC	0.498																																						dbGAP											0													21.0	22.0	22.0					X																	35821240		2183	4287	6470	-	-	-	SO:0001587	stop_gained	0				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.927T>G	X.37:g.35821240T>G	ENSP00000382871:p.Tyr309*		A8MU30	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Y341*	ENST00000399989.1	37	c.1023	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632720	0.67015	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	.	.	.	3.13	0.606	0.17559	.	0.275088	0.36628	N	0.002482	.	.	.	.	.	.	0.30013	N	0.815031	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7022	0.12832	0.0:0.3003:0.0:0.6997	.	.	.	.	X	309;341;309;309;309	.	ENSP00000382867:Y309X	Y	+	3	2	MAGEB16	35731161	0.982000	0.34865	0.090000	0.20809	0.112000	0.19704	0.442000	0.21628	0.039000	0.15632	0.423000	0.28283	TAT	MAGEB16	-	pfscan_MAGE	ENSG00000189023		0.498	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	55	0.00	0	T			35821240	35821240	+1	no_errors	ENST00000399992	ensembl	human	known	69_37n	nonsense	69	13.75	11	SNP	0.089	G
MAPRE2	10982	genome.wustl.edu	37	18	32677520	32677520	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr18:32677520C>A	ENST00000300249.5	+	3	541	c.361C>A	c.(361-363)Ctg>Atg	p.L121M	MAPRE2_ENST00000413393.1_Missense_Mutation_p.L78M|MAPRE2_ENST00000436190.2_Missense_Mutation_p.L109M|MAPRE2_ENST00000589699.1_Missense_Mutation_p.L78M|MAPRE2_ENST00000538170.2_Missense_Mutation_p.L68M|MAPRE2_ENST00000588910.1_Missense_Mutation_p.L121M	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	121	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TTTTAAACTTCTGCAAGCATC	0.338																																						dbGAP											0													68.0	67.0	67.0					18																	32677520		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.361C>A	18.37:g.32677520C>A	ENSP00000300249:p.Leu121Met		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.L121M	ENST00000300249.5	37	c.361	CCDS11910.1	18	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883578	0.72410	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.88	5.01	0.66863	Calponin homology domain (4);	0.000000	0.64402	D	0.000001	T	0.79423	0.4443	M	0.93939	3.475	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.997	D	0.85254	0.1046	10	0.72032	D	0.01	-11.0386	15.1284	0.72500	0.0:0.9319:0.0:0.0681	.	109;68;121;121	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	M	78;109;121;68	ENSP00000396074:L78M;ENSP00000407723:L109M;ENSP00000300249:L121M;ENSP00000446343:L68M	ENSP00000300249:L121M	L	+	1	2	MAPRE2	30931518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.351000	0.52232	1.492000	0.48499	0.585000	0.79938	CTG	MAPRE2	-	pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	ENSG00000166974		0.338	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	MAPRE2	HGNC	protein_coding	OTTHUMT00000255753.2	41	0.00	0	C	NM_014268		32677520	32677520	+1	no_errors	ENST00000300249	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	A
METTL16	79066	genome.wustl.edu	37	17	2367623	2367623	+	Silent	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr17:2367623G>T	ENST00000263092.6	-	6	734	c.607C>A	c.(607-609)Cga>Aga	p.R203R	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	203							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGAGGTCTTCGAGGATTTCGT	0.403																																						dbGAP											0													121.0	107.0	112.0					17																	2367623		1843	4088	5931	-	-	-	SO:0001819	synonymous_variant	0			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.607C>A	17.37:g.2367623G>T			D3DTI8|Q86TE5|Q96T16|Q9BVG7	Nonsense_Mutation	SNP	pfam_rRNA_lsu_MeTfrase_F-like	p.S164*	ENST00000263092.6	37	c.491	CCDS42232.1	17																																																																																			METTL16	-	NULL	ENSG00000127804		0.403	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL16	HGNC	protein_coding	OTTHUMT00000437653.2	59	0.00	0	G	NM_024086		2367623	2367623	-1	no_errors	ENST00000574752	ensembl	human	known	69_37n	nonsense	31	11.43	4	SNP	1.000	T
MKLN1	4289	genome.wustl.edu	37	7	131172588	131172588	+	3'UTR	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr7:131172588C>A	ENST00000352689.6	+	0	2349				MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs						signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TGATTGAGGACTGCACCAGAG	0.463																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.*101C>A	7.37:g.131172588C>A			A4D1M8|A6NG43|Q9NSK4|Q9NUS8	RNA	SNP	-	NULL	ENST00000352689.6	37	NULL	CCDS34754.1	7																																																																																			MKLN1	-	-	ENSG00000128585		0.463	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	33	0.00	0	C	NM_013255		131172588	131172588	+1	no_errors	ENST00000498778	ensembl	human	known	69_37n	rna	34	10.53	4	SNP	0.797	A
MKRN2OS	100129480	genome.wustl.edu	37	3	12586930	12586930	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:12586930T>G	ENST00000564146.3	-	1	125	c.34A>C	c.(34-36)Aaa>Caa	p.K12Q	C3orf83_ENST00000567514.1_Intron	NM_001195279.1	NP_001182208.1	H3BPM6	MKROS_HUMAN		12																	TGGTTGAATTTAATTAAAGCC	0.542																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000564146.3:c.34A>C	3.37:g.12586930T>G	ENSP00000455385:p.Lys12Gln			Missense_Mutation	SNP	NULL	p.K12Q	ENST00000564146.3	37	c.34	CCDS58816.1	3																																																																																			MKRN2-AS1	-	NULL	ENSG00000225526		0.542	C3orf83-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MKRN2-AS1	HGNC	protein_coding	OTTHUMT00000422118.3	82	0.00	0	T			12586930	12586930	-1	no_errors	ENST00000561645	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.564	G
MRVI1	10335	genome.wustl.edu	37	11	10624667	10624667	+	Splice_Site	SNP	C	C	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:10624667C>A	ENST00000436272.1	-	13	1872	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	MRVI1_ENST00000421747.1_Splice_Site_p.Q616H|MRVI1_ENST00000547195.1_Splice_Site_p.Q534H|MRVI1_ENST00000527509.2_Splice_Site_p.Q534H|MRVI1_ENST00000558540.1_Splice_Site_p.Q310H|MRVI1_ENST00000423302.2_Splice_Site_p.Q625H|MRVI1_ENST00000552103.1_Splice_Site_p.Q534H|MRVI1_ENST00000545852.1_Splice_Site_p.Q310H|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Splice_Site_p.Q310H|MRVI1_ENST00000424001.1_Splice_Site_p.Q310H|MRVI1_ENST00000541483.1_Splice_Site_p.Q419H|MRVI1_ENST00000531107.1_Splice_Site_p.Q617H			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	598					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGAGACTCACCTGGCGGACGG	0.607																																						dbGAP											0													18.0	22.0	20.0					11																	10624667		1985	4137	6122	-	-	-	SO:0001630	splice_region_variant	0			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1794+1G>T	11.37:g.10624667C>A			B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.Q616H	ENST00000436272.1	37	c.1848		11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008919	0.93346	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.51635	0.1686	M	0.67700	2.07	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.42999	-0.9418	9	.	.	.	-15.5328	19.509	0.95133	0.0:1.0:0.0:0.0	.	419;598;617;616	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	H	616;599;598;534;534;310;310;625;419;617;534	ENSP00000414598:Q616H;ENSP00000412229:Q598H;ENSP00000448278:Q534H;ENSP00000446764:Q534H;ENSP00000441971:Q310H;ENSP00000401205:Q310H;ENSP00000412130:Q625H;ENSP00000437784:Q419H;ENSP00000432436:Q617H;ENSP00000432067:Q534H	.	Q	-	3	2	MRVI1	10581243	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.275000	0.78548	2.682000	0.91365	0.655000	0.94253	CAG	MRVI1	-	pfam_MRVI1	ENSG00000072952		0.607	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		128	0.00	0	C	NM_001098579	Missense_Mutation	10624667	10624667	-1	no_errors	ENST00000421747	ensembl	human	known	69_37n	missense	82	15.46	15	SNP	1.000	A
MSS51	118490	genome.wustl.edu	37	10	75185617	75185617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:75185617C>A	ENST00000372912.1	-	4	1023	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	MSS51_ENST00000299432.2_Nonsense_Mutation_p.E341*|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	341					social behavior (GO:0035176)		metal ion binding (GO:0046872)										TGCCCGGTCTCTACTTGCTCC	0.542																																						dbGAP											0													68.0	64.0	66.0					10																	75185617		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.1021G>T	10.37:g.75185617C>A	ENSP00000362003:p.Glu341*		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Nonsense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.E341*	ENST00000372912.1	37	c.1021	CCDS31221.1	10	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153050	0.78001	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	.	.	.	5.52	4.62	0.57501	.	0.107759	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-7.4852	11.892	0.52635	0.0:0.9168:0.0:0.0832	.	.	.	.	X	341	.	ENSP00000299432:E341X	E	-	1	0	ZMYND17	74855623	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.598000	0.67585	1.565000	0.49641	0.650000	0.86243	GAG	MSS51	-	NULL	ENSG00000166343		0.542	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MSS51	HGNC	protein_coding	OTTHUMT00000048652.3	105	0.00	0	C	NM_178451		75185617	75185617	-1	no_errors	ENST00000299432	ensembl	human	known	69_37n	nonsense	55	14.06	9	SNP	1.000	A
MUC12	10071	genome.wustl.edu	37	7	100641727	100641728	+	In_Frame_Ins	INS	-	-	TGA			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr7:100641727_100641728insTGA	ENST00000379442.3	+	5	8312_8313	c.8312_8313insTGA	c.(8311-8316)ggagaa>ggTGAagaa	p.2772_2773insE	MUC12_ENST00000536621.1_In_Frame_Ins_p.2629_2630insE			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2772	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						TCAGGTCGTGGAGAATCTACAA	0.51																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	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	Exception_encountered	7.37:g.100641727_100641728insTGA	ENSP00000368755:p.Glu2772_Glu2772dup		A6ND38|F5GWV9|Q9UKN0	In_Frame_Ins	INS	pfam_SEA	p.2773in_frame_insE	ENST00000379442.3	37	c.8312_8313		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.510	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	75	0.00	0	-	XM_379904		100641727	100641728	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	in_frame_ins	9	25.00	3	INS	0.002:0.002	TGA
MUC12	10071	genome.wustl.edu	37	7	100647651	100647652	+	Frame_Shift_Ins	INS	-	-	C	rs111660528	byFrequency	TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr7:100647651_100647652insC	ENST00000379442.3	+	5	14236_14237	c.14236_14237insC	c.(14236-14238)acgfs	p.T4746fs	MUC12_ENST00000536621.1_Frame_Shift_Ins_p.T4603fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4746	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)		p.T4603M(1)		breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TGAAGAATCTACGGCGTACCAC	0.554																																						dbGAP											1	Substitution - Missense(1)	stomach(1)																																								-	-	-	SO:0001589	frameshift_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.14237dupC	7.37:g.100647652_100647652dupC	ENSP00000368755:p.Thr4746fs		A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Ins	INS	pfam_SEA	p.A4747fs	ENST00000379442.3	37	c.14236_14237		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.554	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	77	0.00	0	-	XM_379904		100647651	100647652	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.002:0.001	C
MUC5B	727897	genome.wustl.edu	37	11	1253969	1253969	+	Silent	SNP	A	A	G	rs72846370		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:1253969A>G	ENST00000529681.1	+	17	2092	c.2034A>G	c.(2032-2034)gtA>gtG	p.V678V	MUC5B_ENST00000447027.1_Silent_p.V681V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	678					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAAGGGCGTACAGCTCAGCG	0.682																																						dbGAP											0													23.0	26.0	25.0					11																	1253969		2131	4242	6373	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2034A>G	11.37:g.1253969A>G			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V681	ENST00000529681.1	37	c.2043	CCDS44515.2	11																																																																																			MUC5B	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000117983		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	24	0.00	0	A	XM_001126093		1253969	1253969	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	5	37.50	3	SNP	0.952	G
NEDD1	121441	genome.wustl.edu	37	12	97306572	97306572	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:97306572C>A	ENST00000266742.4	+	4	547	c.208C>A	c.(208-210)Cca>Aca	p.P70T	NEDD1_ENST00000457368.2_5'UTR|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000429527.2_Missense_Mutation_p.P70T|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000557644.1_Missense_Mutation_p.P77T	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	70					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAAACCTGTTCCACTTTTAGA	0.343																																						dbGAP											0													123.0	114.0	117.0					12																	97306572		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.208C>A	12.37:g.97306572C>A	ENSP00000266742:p.Pro70Thr		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P77T	ENST00000266742.4	37	c.229	CCDS9063.1	12	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478120	0.44044	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000557092;ENST00000557644	T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;5.1;1.65	5.57	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100111	0.64402	D	0.000001	T	0.25082	0.0609	L	0.36672	1.1	0.80722	D	1	B;B	0.20261	0.043;0.006	B;B	0.20384	0.029;0.013	T	0.03483	-1.1032	10	0.18276	T	0.48	.	15.5604	0.76240	0.1385:0.8615:0.0:0.0	.	77;70	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	T	70;70;77;70;70;77	ENSP00000266742:P70T;ENSP00000404978:P70T;ENSP00000450881:P77T;ENSP00000451869:P70T;ENSP00000450757:P70T;ENSP00000451211:P77T	ENSP00000266742:P70T	P	+	1	0	NEDD1	95830703	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.898000	0.56281	2.785000	0.95823	0.650000	0.86243	CCA	NEDD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000139350		0.343	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD1	HGNC	protein_coding	OTTHUMT00000409792.1	53	0.00	0	C			97306572	97306572	+1	no_errors	ENST00000557644	ensembl	human	known	69_37n	missense	65	14.47	11	SNP	1.000	A
NOSTRIN	115677	genome.wustl.edu	37	2	169711970	169711970	+	Splice_Site	DEL	G	G	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:169711970delG	ENST00000317647.7	+	11	1193	c.964delG	c.(964-966)ggc>gc	p.G322fs	NOSTRIN_ENST00000397206.2_Splice_Site_p.G244fs|NOSTRIN_ENST00000445023.2_Splice_Site_p.G244fs|NOSTRIN_ENST00000397209.2_Splice_Site_p.G294fs|NOSTRIN_ENST00000444448.2_Splice_Site_p.G379fs|NOSTRIN_ENST00000458381.2_Splice_Site_p.G379fs|NOSTRIN_ENST00000421711.2_Splice_Site_p.G294fs	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	322					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGACAAGGAAGGTGTGTAACC	0.403																																						dbGAP											0													65.0	62.0	63.0					2																	169711970		1867	4102	5969	-	-	-	SO:0001630	splice_region_variant	0			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.964+1G>-	2.37:g.169711970delG			A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.G379fs	ENST00000317647.7	37	c.1135	CCDS42771.1	2																																																																																			NOSTRIN	-	superfamily_HR1_rho-bd	ENSG00000163072		0.403	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	17	0.00	0	G	NM_052946	Frame_Shift_Del	169711970	169711970	+1	no_errors	ENST00000444448	ensembl	human	known	69_37n	frame_shift_del	16	15.79	3	DEL	1.000	-
OC90	729330	genome.wustl.edu	37	8	133053814	133053814	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr8:133053814C>A	ENST00000443356.2	-	5	388	c.302G>T	c.(301-303)tGc>tTc	p.C101F	OC90_ENST00000603859.1_Missense_Mutation_p.C101F|OC90_ENST00000254627.3_Missense_Mutation_p.C101F|OC90_ENST00000262283.5_Missense_Mutation_p.C297F			Q02509	OC90_HUMAN	otoconin 90	101	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTCAAACCTGCAGGTGCAACC	0.507																																						dbGAP											0													52.0	53.0	52.0					8																	133053814		1978	4159	6137	-	-	-	SO:0001583	missense	0			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.302G>T	8.37:g.133053814C>A	ENSP00000390050:p.Cys101Phe		B4DNG8	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.C101F	ENST00000443356.2	37	c.302		8	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815611	0.70912	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.52295	0.67;0.67;0.67	5.88	5.88	0.94601	Phospholipase A2 (3);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86183	0.1607	10	0.87932	D	0	-16.9454	17.3766	0.87394	0.0:1.0:0.0:0.0	.	101;101	Q02509-2;Q02509	.;OC90_HUMAN	F	101;101;297	ENSP00000254627:C101F;ENSP00000390050:C101F;ENSP00000262283:C297F	ENSP00000254627:C101F	C	-	2	0	RP11-240B13.2;OC90	133122996	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.383000	0.73172	2.790000	0.95986	0.591000	0.81541	TGC	OC90	-	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	ENSG00000253117		0.507	OC90-201	KNOWN	basic	protein_coding	OC90	HGNC	protein_coding		54	0.00	0	C	NM_001080399		133053814	133053814	-1	no_errors	ENST00000443356	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	A
OPN4	94233	genome.wustl.edu	37	10	88423491	88423491	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:88423491G>A	ENST00000241891.5	+	9	1497	c.1330G>A	c.(1330-1332)Ggt>Agt	p.G444S	OPN4_ENST00000372071.2_Missense_Mutation_p.G455S	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	444			G -> D (in dbSNP:rs12262894).		phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTACGGTCAGGGTCTGGAGGA	0.622																																						dbGAP											0													47.0	39.0	42.0					10																	88423491		2196	4296	6492	-	-	-	SO:0001583	missense	0			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1330G>A	10.37:g.88423491G>A	ENSP00000241891:p.Gly444Ser		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.G455S	ENST00000241891.5	37	c.1363	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604982	0.28623	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.66099	1.34;1.34;-0.19	4.69	1.74	0.24563	.	1.400140	0.04705	N	0.416623	T	0.45094	0.1325	L	0.28740	0.885	0.09310	N	1	B;B;B	0.16802	0.011;0.006;0.019	B;B;B	0.14578	0.009;0.003;0.011	T	0.22173	-1.0224	10	0.06494	T	0.89	.	5.2717	0.15628	0.1849:0.1663:0.6488:0.0	.	455;444;455	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	S	455;444;455	ENSP00000361141:G455S;ENSP00000241891:G444S;ENSP00000393132:G455S	ENSP00000241891:G444S	G	+	1	0	OPN4	88413471	0.005000	0.15991	0.011000	0.14972	0.211000	0.24417	0.369000	0.20416	0.271000	0.22005	0.655000	0.94253	GGT	OPN4	-	NULL	ENSG00000122375		0.622	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	63	0.00	0	G	NM_033282		88423491	88423491	+1	no_errors	ENST00000372071	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.005	A
OPN4	94233	genome.wustl.edu	37	10	88423491	88423491	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:88423491G>A	ENST00000241891.5	+	9	1497	c.1330G>A	c.(1330-1332)Ggt>Agt	p.G444S	OPN4_ENST00000372071.2_Missense_Mutation_p.G455S	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	444			G -> D (in dbSNP:rs12262894).		phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTACGGTCAGGGTCTGGAGGA	0.622																																						dbGAP											0													47.0	39.0	42.0					10																	88423491		2196	4296	6492	-	-	-	SO:0001583	missense	0			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1330G>A	10.37:g.88423491G>A	ENSP00000241891:p.Gly444Ser		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.G455S	ENST00000241891.5	37	c.1363	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604982	0.28623	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.66099	1.34;1.34;-0.19	4.69	1.74	0.24563	.	1.400140	0.04705	N	0.416623	T	0.45094	0.1325	L	0.28740	0.885	0.09310	N	1	B;B;B	0.16802	0.011;0.006;0.019	B;B;B	0.14578	0.009;0.003;0.011	T	0.22173	-1.0224	10	0.06494	T	0.89	.	5.2717	0.15628	0.1849:0.1663:0.6488:0.0	.	455;444;455	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	S	455;444;455	ENSP00000361141:G455S;ENSP00000241891:G444S;ENSP00000393132:G455S	ENSP00000241891:G444S	G	+	1	0	OPN4	88413471	0.005000	0.15991	0.011000	0.14972	0.211000	0.24417	0.369000	0.20416	0.271000	0.22005	0.655000	0.94253	GGT	OPN4	-	NULL	ENSG00000122375		0.622	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	63	0.00	0	G	NM_033282		88423491	88423491	+1	no_errors	ENST00000372071	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	0.005	A
ORC2	4999	genome.wustl.edu	37	2	201796125	201796125	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:201796125G>T	ENST00000234296.2	-	11	1103	c.854C>A	c.(853-855)gCc>gAc	p.A285D		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	285					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTTAAGTTCGGCAGAAAAGGA	0.328																																						dbGAP											0													73.0	73.0	73.0					2																	201796125		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.854C>A	2.37:g.201796125G>T	ENSP00000234296:p.Ala285Asp		Q13204|Q53TX5	Missense_Mutation	SNP	pfam_ORC2	p.A285D	ENST00000234296.2	37	c.854	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748784	0.30955	.	.	ENSG00000115942	ENST00000234296	T	0.42131	0.98	5.67	5.67	0.87782	.	0.486350	0.25060	N	0.033447	T	0.33381	0.0861	L	0.33753	1.03	0.37609	D	0.920857	B;B	0.19200	0.011;0.034	B;B	0.21151	0.033;0.022	T	0.18493	-1.0335	10	0.19590	T	0.45	-0.9345	14.9278	0.70893	0.0:0.1428:0.8572:0.0	.	285;285	B4DYU9;Q13416	.;ORC2_HUMAN	D	285	ENSP00000234296:A285D	ENSP00000234296:A285D	A	-	2	0	ORC2	201504370	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	3.885000	0.56182	2.667000	0.90743	0.561000	0.74099	GCC	ORC2	-	pfam_ORC2	ENSG00000115942		0.328	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2	31	0.00	0	G	NM_006190		201796125	201796125	-1	no_errors	ENST00000234296	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	T
ACP7	390928	genome.wustl.edu	37	19	39591969	39591969	+	Nonsense_Mutation	SNP	C	C	T	rs560738276		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:39591969C>T	ENST00000331256.5	+	10	1289	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	PAPL_ENST00000594229.1_Silent_p.N297N	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		339						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CTCGTATGAACGACTGTGGCC	0.597																																						dbGAP											0													99.0	90.0	93.0					19																	39591969		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000331256.5:c.1015C>T	19.37:g.39591969C>T	ENSP00000327557:p.Arg339*		B2RN68	Nonsense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N	p.R339*	ENST00000331256.5	37	c.1015	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.047387	0.97236	.	.	ENSG00000183760	ENST00000331256	.	.	.	5.18	3.01	0.34805	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2547	8.3784	0.32457	0.1537:0.7641:0.0:0.0822	.	.	.	.	X	339	.	ENSP00000327557:R339X	R	+	1	2	AC011443.1	44283809	0.995000	0.38212	0.082000	0.20525	0.389000	0.30415	1.132000	0.31418	0.734000	0.32515	0.655000	0.94253	CGA	AC011443.1	-	NULL	ENSG00000183760		0.597	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPL	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000463810.1	71	0.00	0	C			39591969	39591969	+1	no_errors	ENST00000331256	ensembl	human	known	69_37n	nonsense	11	21.43	3	SNP	0.957	T
ACP7	390928	genome.wustl.edu	37	19	39591969	39591969	+	Nonsense_Mutation	SNP	C	C	T	rs560738276		TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:39591969C>T	ENST00000331256.5	+	10	1289	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	PAPL_ENST00000594229.1_Silent_p.N297N	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		339						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CTCGTATGAACGACTGTGGCC	0.597																																						dbGAP											0													99.0	90.0	93.0					19																	39591969		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000331256.5:c.1015C>T	19.37:g.39591969C>T	ENSP00000327557:p.Arg339*		B2RN68	Nonsense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N	p.R339*	ENST00000331256.5	37	c.1015	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.047387	0.97236	.	.	ENSG00000183760	ENST00000331256	.	.	.	5.18	3.01	0.34805	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2547	8.3784	0.32457	0.1537:0.7641:0.0:0.0822	.	.	.	.	X	339	.	ENSP00000327557:R339X	R	+	1	2	AC011443.1	44283809	0.995000	0.38212	0.082000	0.20525	0.389000	0.30415	1.132000	0.31418	0.734000	0.32515	0.655000	0.94253	CGA	AC011443.1	-	NULL	ENSG00000183760		0.597	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPL	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000463810.1	71	0.00	0	C			39591969	39591969	+1	no_errors	ENST00000331256	ensembl	human	known	69_37n	nonsense	49	12.50	7	SNP	0.957	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	48	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	29	40.82	20	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	48	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	55	36.78	32	SNP	1.000	A
PIKFYVE	200576	genome.wustl.edu	37	2	209165661	209165661	+	Splice_Site	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:209165661G>T	ENST00000264380.4	+	9	1209	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	PIKFYVE_ENST00000308862.6_Splice_Site_p.D265Y|PIKFYVE_ENST00000392202.3_Splice_Site_p.D254Y|PIKFYVE_ENST00000407449.1_Splice_Site_p.D351Y	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	351					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						GTGATTGCAGGACAGTGTGCA	0.403																																						dbGAP											0													111.0	102.0	105.0					2																	209165661		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.1051-1G>T	2.37:g.209165661G>T			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.D351Y	ENST00000264380.4	37	c.1051	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686805	0.88639	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.68624	1.42;-0.34;1.53	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.994;0.999;0.994	D;D;P;D;P	0.87578	0.956;0.998;0.878;0.993;0.878	T	0.71563	-0.4555	9	.	.	.	-16.9115	17.994	0.89177	0.0:0.0:1.0:0.0	.	351;351;265;351;254	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	Y	254;351;351;265;351	ENSP00000264380:D351Y;ENSP00000384356:D351Y;ENSP00000405736:D351Y	.	D	+	1	0	PIKFYVE	208873906	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.837000	0.99465	2.521000	0.84997	0.563000	0.77884	GAC	PIKFYVE	-	NULL	ENSG00000115020		0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	41	0.00	0	G	NM_015040	Missense_Mutation	209165661	209165661	+1	no_errors	ENST00000264380	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	1.000	T
PLEKHA5	54477	genome.wustl.edu	37	12	19475245	19475245	+	Splice_Site	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:19475245C>A	ENST00000299275.6	+	14	1916	c.1910C>A	c.(1909-1911)gCc>gAc	p.A637D	PLEKHA5_ENST00000355397.3_Splice_Site_p.A695D|PLEKHA5_ENST00000317589.4_Splice_Site_p.A637D|PLEKHA5_ENST00000538714.1_Splice_Site_p.A695D|PLEKHA5_ENST00000424268.1_Splice_Site_p.A568D|PLEKHA5_ENST00000359180.3_Splice_Site_p.A637D|PLEKHA5_ENST00000539256.1_Splice_Site_p.A395D|PLEKHA5_ENST00000429027.2_Splice_Site_p.A740D|PLEKHA5_ENST00000543806.1_Splice_Site_p.A556D	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	637					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAACCTAGGCCAAGTTAAGC	0.343																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0													87.0	87.0	87.0					12																	19475245		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1909-1C>A	12.37:g.19475245C>A			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.A637D	ENST00000299275.6	37	c.1910	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195392	0.58126	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T	0.79554	-1.28;1.39;-1.28;2.52;-1.28;-1.28;1.39;2.52;1.39;1.39	4.76	3.88	0.44766	.	0.222045	0.47455	D	0.000231	D	0.86435	0.5932	M	0.67953	2.075	0.80722	D	1	D;D;D;P;D;P;P	0.71674	0.995;0.983;0.972;0.944;0.998;0.839;0.835	D;P;P;B;D;P;P	0.66979	0.948;0.894;0.726;0.4;0.913;0.529;0.72	D	0.86084	0.1546	10	0.48119	T	0.1	-3.4955	11.6353	0.51200	0.0:0.9169:0.0:0.0831	.	637;556;568;740;740;637;695	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	D	637;695;637;741;740;637;395;695;568;556;529	ENSP00000325155:A637D;ENSP00000347560:A695D;ENSP00000352104:A637D;ENSP00000404296:A740D;ENSP00000299275:A637D;ENSP00000440611:A395D;ENSP00000439673:A695D;ENSP00000400411:A568D;ENSP00000439837:A556D;ENSP00000440371:A529D	ENSP00000299275:A637D	A	+	2	0	PLEKHA5	19366512	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	2.475000	0.45162	1.222000	0.43521	0.557000	0.71058	GCC	PLEKHA5	-	NULL	ENSG00000052126		0.343	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	24	0.00	0	C	NM_019012	Missense_Mutation	19475245	19475245	+1	no_errors	ENST00000317589	ensembl	human	known	69_37n	missense	12	25.00	4	SNP	1.000	A
PLEKHA5	54477	genome.wustl.edu	37	12	19475283	19475283	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:19475283C>A	ENST00000299275.6	+	14	1954	c.1948C>A	c.(1948-1950)Cat>Aat	p.H650N	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H708N|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H650N|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.H708N|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H581N|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H650N|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H408N|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H753N|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H569N	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	650					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TAAAGTGGTGCATGCTCTGGA	0.338																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0													104.0	105.0	105.0					12																	19475283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1948C>A	12.37:g.19475283C>A	ENSP00000299275:p.His650Asn		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.H650N	ENST00000299275.6	37	c.1948	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503033	0.44558	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;2.63;-1.04;-1.04;-1.04;2.63;-1.04;-1.04	4.76	4.76	0.60689	.	0.225320	0.46145	D	0.000304	T	0.73102	0.3544	L	0.36672	1.1	0.23747	N	0.996951	B;B;B;B;B;B;B	0.32160	0.356;0.141;0.087;0.036;0.144;0.358;0.351	B;B;B;B;B;B;B	0.36922	0.236;0.104;0.048;0.03;0.03;0.07;0.146	T	0.70586	-0.4831	10	0.72032	D	0.01	-8.3873	16.1322	0.81449	0.0:1.0:0.0:0.0	.	650;569;581;753;753;650;708	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	N	650;708;650;754;753;650;408;708;581;569;542	ENSP00000325155:H650N;ENSP00000347560:H708N;ENSP00000352104:H650N;ENSP00000404296:H753N;ENSP00000299275:H650N;ENSP00000440611:H408N;ENSP00000439673:H708N;ENSP00000400411:H581N;ENSP00000439837:H569N;ENSP00000440371:H542N	ENSP00000299275:H650N	H	+	1	0	PLEKHA5	19366550	1.000000	0.71417	0.474000	0.27266	0.984000	0.73092	5.132000	0.64758	2.462000	0.83206	0.557000	0.71058	CAT	PLEKHA5	-	NULL	ENSG00000052126		0.338	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	28	0.00	0	C	NM_019012		19475283	19475283	+1	no_errors	ENST00000317589	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	0.788	A
POLR3D	661	genome.wustl.edu	37	8	22106709	22106709	+	Missense_Mutation	SNP	C	C	G	rs535830031		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr8:22106709C>G	ENST00000397802.4	+	6	1023	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	POLR3D_ENST00000306433.4_Missense_Mutation_p.Q270E			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	270					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GCTGTTTCTGCAGCTGCCAGA	0.597																																						dbGAP											0													67.0	60.0	62.0					8																	22106709		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.808C>G	8.37:g.22106709C>G	ENSP00000380904:p.Gln270Glu		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc4	p.Q270E	ENST00000397802.4	37	c.808	CCDS34858.1	8	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662632	0.88251	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.88263	0.2924	9	0.87932	D	0	-27.6387	18.308	0.90189	0.0:1.0:0.0:0.0	.	270	P05423	RPC4_HUMAN	E	270	.	ENSP00000303088:Q270E	Q	+	1	0	POLR3D	22162654	1.000000	0.71417	0.996000	0.52242	0.780000	0.44128	7.574000	0.82434	2.618000	0.88619	0.563000	0.77884	CAG	POLR3D	-	pfam_RNA_pol_III_Rpc4	ENSG00000168495		0.597	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3D	HGNC	protein_coding	OTTHUMT00000375434.2	56	0.00	0	C	NM_001722		22106709	22106709	+1	no_errors	ENST00000397802	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	1.000	G
POLR3D	661	genome.wustl.edu	37	8	22106709	22106709	+	Missense_Mutation	SNP	C	C	G	rs535830031		TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr8:22106709C>G	ENST00000397802.4	+	6	1023	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	POLR3D_ENST00000306433.4_Missense_Mutation_p.Q270E			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	270					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GCTGTTTCTGCAGCTGCCAGA	0.597																																						dbGAP											0													67.0	60.0	62.0					8																	22106709		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.808C>G	8.37:g.22106709C>G	ENSP00000380904:p.Gln270Glu		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc4	p.Q270E	ENST00000397802.4	37	c.808	CCDS34858.1	8	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662632	0.88251	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.88263	0.2924	9	0.87932	D	0	-27.6387	18.308	0.90189	0.0:1.0:0.0:0.0	.	270	P05423	RPC4_HUMAN	E	270	.	ENSP00000303088:Q270E	Q	+	1	0	POLR3D	22162654	1.000000	0.71417	0.996000	0.52242	0.780000	0.44128	7.574000	0.82434	2.618000	0.88619	0.563000	0.77884	CAG	POLR3D	-	pfam_RNA_pol_III_Rpc4	ENSG00000168495		0.597	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3D	HGNC	protein_coding	OTTHUMT00000375434.2	56	0.00	0	C	NM_001722		22106709	22106709	+1	no_errors	ENST00000397802	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	G
POTEH	23784	genome.wustl.edu	37	22	16277955	16277955	+	Intron	SNP	A	A	G	rs4819442		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr22:16277955A>G	ENST00000343518.6	-	5	1080				POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTACCAATTTAACATCTTGCC	0.338																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1029-70T>C	22.37:g.16277955A>G			A2CEK4|A6NCI1|A9Z1W0	RNA	SNP	-	NULL	ENST00000343518.6	37	NULL	CCDS46658.1	22																																																																																			POTEH-AS1	-	-	ENSG00000236666		0.338	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH-AS1	HGNC	protein_coding	OTTHUMT00000276918.4	24	0.00	0	A	NM_001136213		16277955	16277955	+1	no_errors	ENST00000422014	ensembl	human	known	69_37n	rna	13	18.75	3	SNP	0.004	G
PPP1R12A	4659	genome.wustl.edu	37	12	80169711	80169711	+	Nonstop_Mutation	SNP	A	A	T	rs75582066		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:80169711A>T	ENST00000450142.2	-	25	3357	c.3091T>A	c.(3091-3093)Taa>Aaa	p.*1031K	RP11-530C5.1_ENST00000551995.1_lincRNA|PPP1R12A_ENST00000261207.5_Nonstop_Mutation_p.*1031K|PPP1R12A_ENST00000550107.1_Nonstop_Mutation_p.*975K|PPP1R12A_ENST00000437004.2_Nonstop_Mutation_p.*996K|PPP1R12A_ENST00000546369.1_Nonstop_Mutation_p.*944K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	0					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TTTTTTTTTTATTTGGAAAGT	0.378																																						dbGAP											0													52.0	47.0	48.0					12																	80169711		1803	4076	5879	-	-	-	SO:0001578	stop_lost	0			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.3091T>A	12.37:g.80169711A>T			B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Nonstop_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.*1031K	ENST00000450142.2	37	c.3091	CCDS44947.1	12	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362292	0.82353	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107	.	.	.	5.85	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1766	0.54188	0.932:0.0:0.068:0.0	.	.	.	.	K	1031;1031;996;975;972;1031;996;944;975	.	.	X	-	1	0	PPP1R12A	78693842	1.000000	0.71417	0.949000	0.38748	0.703000	0.40648	6.731000	0.74785	2.237000	0.73441	0.477000	0.44152	TAA	PPP1R12A	-	NULL	ENSG00000058272		0.378	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	20	0.00	0	A	NM_002480		80169711	80169711	-1	no_errors	ENST00000261207	ensembl	human	known	69_37n	nonstop	38	17.39	8	SNP	1.000	T
PPP6R3	55291	genome.wustl.edu	37	11	68312338	68312338	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:68312338C>T	ENST00000393800.2	+	4	514	c.260C>T	c.(259-261)tCt>tTt	p.S87F	PPP6R3_ENST00000529710.1_Missense_Mutation_p.S87F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S87F|PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S87F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S87F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S87F|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S87F|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S87F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S87F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	87					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGCTCACTTCTGATGTCTCC	0.333																																						dbGAP											0													95.0	92.0	93.0					11																	68312338		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.260C>T	11.37:g.68312338C>T	ENSP00000377389:p.Ser87Phe		Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.S87F	ENST00000393800.2	37	c.260	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382990	0.82792	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T	0.68025	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.3;-0.3;-0.16	4.97	4.97	0.65823	.	0.110893	0.64402	D	0.000004	D	0.82458	0.5041	M	0.91090	3.175	0.80722	D	1	B;B;B;B;B;B	0.32862	0.232;0.124;0.232;0.149;0.225;0.387	P;B;P;B;B;B	0.50537	0.517;0.436;0.643;0.386;0.295;0.356	T	0.79366	-0.1833	10	0.13853	T	0.58	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	87;87;87;87;87;87	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	F	87	ENSP00000377388:S87F;ENSP00000377389:S87F;ENSP00000431415:S87F;ENSP00000265637:S87F;ENSP00000433058:S87F;ENSP00000377390:S87F;ENSP00000265636:S87F;ENSP00000437329:S87F;ENSP00000433565:S87F	ENSP00000265636:S87F	S	+	2	0	PPP6R3	68068914	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	7.726000	0.84824	2.612000	0.88384	0.485000	0.47835	TCT	PPP6R3	-	NULL	ENSG00000110075		0.333	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	40	0.00	0	C	NM_018312		68312338	68312338	+1	no_errors	ENST00000393799	ensembl	human	known	69_37n	missense	51	16.39	10	SNP	1.000	T
PPP6R3	55291	genome.wustl.edu	37	11	68312338	68312338	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:68312338C>T	ENST00000393800.2	+	4	514	c.260C>T	c.(259-261)tCt>tTt	p.S87F	PPP6R3_ENST00000529710.1_Missense_Mutation_p.S87F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S87F|PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S87F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S87F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S87F|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S87F|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S87F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S87F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	87					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGCTCACTTCTGATGTCTCC	0.333																																						dbGAP											0													95.0	92.0	93.0					11																	68312338		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.260C>T	11.37:g.68312338C>T	ENSP00000377389:p.Ser87Phe		Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.S87F	ENST00000393800.2	37	c.260	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382990	0.82792	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T	0.68025	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.3;-0.3;-0.16	4.97	4.97	0.65823	.	0.110893	0.64402	D	0.000004	D	0.82458	0.5041	M	0.91090	3.175	0.80722	D	1	B;B;B;B;B;B	0.32862	0.232;0.124;0.232;0.149;0.225;0.387	P;B;P;B;B;B	0.50537	0.517;0.436;0.643;0.386;0.295;0.356	T	0.79366	-0.1833	10	0.13853	T	0.58	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	87;87;87;87;87;87	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	F	87	ENSP00000377388:S87F;ENSP00000377389:S87F;ENSP00000431415:S87F;ENSP00000265637:S87F;ENSP00000433058:S87F;ENSP00000377390:S87F;ENSP00000265636:S87F;ENSP00000437329:S87F;ENSP00000433565:S87F	ENSP00000265636:S87F	S	+	2	0	PPP6R3	68068914	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	7.726000	0.84824	2.612000	0.88384	0.485000	0.47835	TCT	PPP6R3	-	NULL	ENSG00000110075		0.333	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	40	0.00	0	C	NM_018312		68312338	68312338	+1	no_errors	ENST00000393799	ensembl	human	known	69_37n	missense	58	20.55	15	SNP	1.000	T
PSMD3	5709	genome.wustl.edu	37	17	38146348	38146348	+	Splice_Site	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr17:38146348G>T	ENST00000264639.4	+	6	1053	c.879G>T	c.(877-879)ggG>ggT	p.G293G	PSMD3_ENST00000541736.1_Splice_Site_p.G155G	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	293					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CACTCCCAGGGCGAATCAAAG	0.587																																					Ovarian(186;531 2051 6385 19668 48409)	dbGAP											0													62.0	55.0	57.0					17																	38146348		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.878-1G>T	17.37:g.38146348G>T			B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.G293	ENST00000264639.4	37	c.879	CCDS11356.1	17																																																																																			PSMD3	-	smart_PAM	ENSG00000108344		0.587	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD3	HGNC	protein_coding	OTTHUMT00000257018.1	117	0.00	0	G	NM_002809	Silent	38146348	38146348	+1	no_errors	ENST00000264639	ensembl	human	known	69_37n	silent	52	14.75	9	SNP	1.000	T
PTPRU	10076	genome.wustl.edu	37	1	29609431	29609431	+	Silent	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:29609431C>A	ENST00000345512.3	+	12	2241	c.2112C>A	c.(2110-2112)atC>atA	p.I704I	PTPRU_ENST00000373779.3_Silent_p.I704I|PTPRU_ENST00000356870.3_Silent_p.I704I|PTPRU_ENST00000323874.8_Silent_p.I704I|PTPRU_ENST00000428026.2_Silent_p.I704I|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.I704I	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	704					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTATCTCATCTACTTCCAGG	0.607																																						dbGAP											0													64.0	66.0	65.0					1																	29609431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2112C>A	1.37:g.29609431C>A			A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I704	ENST00000345512.3	37	c.2112	CCDS334.1	1																																																																																			PTPRU	-	NULL	ENSG00000060656		0.607	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	89	0.00	0	C			29609431	29609431	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	silent	27	12.90	4	SNP	1.000	A
RFC5	5985	genome.wustl.edu	37	12	118463614	118463614	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:118463614G>T	ENST00000454402.2	+	7	762	c.644G>T	c.(643-645)aGg>aTg	p.R215M	RFC5_ENST00000392542.2_Missense_Mutation_p.R194M|RFC5_ENST00000229043.3_Missense_Mutation_p.R130M	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	215					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACATGCGTAGGGCTCTGAAC	0.423																																						dbGAP											0													134.0	127.0	129.0					12																	118463614		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.644G>T	12.37:g.118463614G>T	ENSP00000408295:p.Arg215Met		A8MZ62|B3KSX8	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.R215M	ENST00000454402.2	37	c.644	CCDS9185.1	12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778338	0.90195	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.44083	1.26;0.93;1.77	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.92026	3.265	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.63381	0.879;0.914;0.914	T	0.78066	-0.2349	10	0.87932	D	0	0.8502	18.6098	0.91281	0.0:0.0:1.0:0.0	.	194;229;215	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	M	130;215;194	ENSP00000229043:R130M;ENSP00000408295:R215M;ENSP00000376325:R194M	ENSP00000229043:R130M	R	+	2	0	RFC5	116947997	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.810000	0.99221	2.683000	0.91414	0.650000	0.86243	AGG	RFC5	-	NULL	ENSG00000111445		0.423	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	43	0.00	0	G	NM_007370		118463614	118463614	+1	no_errors	ENST00000454402	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	T
RHOC	389	genome.wustl.edu	37	1	113246297	113246297	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:113246297T>C	ENST00000285735.2	-	3	1334	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369632.2_Missense_Mutation_p.Y42C|RHOC_ENST00000369633.2_Missense_Mutation_p.Y42C|RHOC_ENST00000369637.1_Missense_Mutation_p.Y42C|RHOC_ENST00000369636.2_Missense_Mutation_p.Y42C|RHOC_ENST00000339083.7_Missense_Mutation_p.Y42C|RHOC_ENST00000369638.2_Missense_Mutation_p.Y42C|RP11-426L16.10_ENST00000606505.1_Silent_p.L205L|RHOC_ENST00000369642.3_Missense_Mutation_p.Y42C			P08134	RHOC_HUMAN	ras homolog family member C	42					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCGCAATATAGTTCTCAAA	0.557																																						dbGAP											0													76.0	60.0	65.0					1																	113246297		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.125A>G	1.37:g.113246297T>C	ENSP00000285735:p.Tyr42Cys		B3KSW1|Q6ICN3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y42C	ENST00000285735.2	37	c.125	CCDS854.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278611	0.80692	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685;ENST00000414971	T;T;T;T;T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.000000	0.47852	D	0.000206	T	0.79718	0.4494	M	0.89163	3.01	0.80722	D	1	P	0.42123	0.771	P	0.52856	0.711	D	0.84148	0.0421	10	0.87932	D	0	-11.3416	14.8581	0.70355	0.0:0.0:0.0:1.0	.	42	P08134	RHOC_HUMAN	C	42;42;42;42;42;42;42;42;79;42;42;42;42	ENSP00000345236:Y42C;ENSP00000358647:Y42C;ENSP00000358656:Y42C;ENSP00000285735:Y42C;ENSP00000358652:Y42C;ENSP00000358651:Y42C;ENSP00000358650:Y42C;ENSP00000358646:Y42C;ENSP00000434877:Y79C;ENSP00000390823:Y42C;ENSP00000436240:Y42C;ENSP00000399424:Y42C;ENSP00000395791:Y42C	ENSP00000285735:Y42C	Y	-	2	0	RHOC	113047820	1.000000	0.71417	0.996000	0.52242	0.837000	0.47467	8.040000	0.89188	1.997000	0.58415	0.379000	0.24179	TAT	RHOC	-	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	ENSG00000155366		0.557	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RHOC	HGNC	protein_coding	OTTHUMT00000032904.2	52	0.00	0	T	NM_175744		113246297	113246297	-1	no_errors	ENST00000285735	ensembl	human	known	69_37n	missense	39	25.00	13	SNP	1.000	C
RNPS1	10921	genome.wustl.edu	37	16	2312369	2312369	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:2312369delT	ENST00000565678.1	-	6	1131	c.586delA	c.(586-588)aggfs	p.R196fs	RNPS1_ENST00000566397.1_Frame_Shift_Del_p.R19fs|RNPS1_ENST00000561718.1_Frame_Shift_Del_p.R19fs|RNPS1_ENST00000566458.1_Frame_Shift_Del_p.R173fs|RNPS1_ENST00000320225.5_Frame_Shift_Del_p.R196fs|RNPS1_ENST00000567147.1_Frame_Shift_Del_p.R173fs|RNPS1_ENST00000301730.8_Frame_Shift_Del_p.R196fs|RNPS1_ENST00000397086.2_Frame_Shift_Del_p.R196fs|RNPS1_ENST00000569598.2_Frame_Shift_Del_p.R102fs|RNPS1_ENST00000568631.1_Frame_Shift_Del_p.R196fs			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	196	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|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)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GGATGCATCCTTTCCACGGGC	0.498																																						dbGAP											0													117.0	106.0	110.0					16																	2312369		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.586delA	16.37:g.2312369delT	ENSP00000457723:p.Arg196fs		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R196fs	ENST00000565678.1	37	c.586	CCDS10465.1	16																																																																																			RNPS1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000205937		0.498	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNPS1	HGNC	protein_coding	OTTHUMT00000435415.1	54	0.00	0	T	NM_080594		2312369	2312369	-1	no_errors	ENST00000301730	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.994	-
RNF40	9810	genome.wustl.edu	37	16	30774485	30774485	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:30774485C>G	ENST00000324685.6	+	3	614	c.179C>G	c.(178-180)gCa>gGa	p.A60G	RNF40_ENST00000357890.5_Missense_Mutation_p.A60G|RNF40_ENST00000402121.3_Missense_Mutation_p.A60G|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank|C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.A60G	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	60					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AAGAAACTGGCAGAGCGGCTG	0.532																																						dbGAP											0													47.0	49.0	48.0					16																	30774485		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.179C>G	16.37:g.30774485C>G	ENSP00000325677:p.Ala60Gly		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.A60G	ENST00000324685.6	37	c.179	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561292	0.65538	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.35236	1.32;1.32;1.42	5.73	5.73	0.89815	.	0.172599	0.51477	D	0.000086	T	0.34454	0.0898	L	0.53249	1.67	0.24973	N	0.991659	P;P;B;B	0.50156	0.525;0.932;0.051;0.03	B;B;B;B	0.36335	0.115;0.222;0.082;0.034	T	0.41466	-0.9507	10	0.46703	T	0.11	-16.0771	18.6637	0.91481	0.0:1.0:0.0:0.0	.	60;60;60;60	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	G	60	ENSP00000325677:A60G;ENSP00000350563:A60G;ENSP00000384942:A60G	ENSP00000325677:A60G	A	+	2	0	RNF40	30681986	0.999000	0.42202	0.994000	0.49952	0.981000	0.71138	3.772000	0.55325	2.698000	0.92095	0.563000	0.77884	GCA	RNF40	-	NULL	ENSG00000103549		0.532	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	74	0.00	0	C	NM_014771		30774485	30774485	+1	no_errors	ENST00000324685	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	0.999	G
RNF40	9810	genome.wustl.edu	37	16	30774485	30774485	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:30774485C>G	ENST00000324685.6	+	3	614	c.179C>G	c.(178-180)gCa>gGa	p.A60G	RNF40_ENST00000357890.5_Missense_Mutation_p.A60G|RNF40_ENST00000402121.3_Missense_Mutation_p.A60G|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank|C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.A60G	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	60					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AAGAAACTGGCAGAGCGGCTG	0.532																																						dbGAP											0													47.0	49.0	48.0					16																	30774485		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.179C>G	16.37:g.30774485C>G	ENSP00000325677:p.Ala60Gly		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.A60G	ENST00000324685.6	37	c.179	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561292	0.65538	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.35236	1.32;1.32;1.42	5.73	5.73	0.89815	.	0.172599	0.51477	D	0.000086	T	0.34454	0.0898	L	0.53249	1.67	0.24973	N	0.991659	P;P;B;B	0.50156	0.525;0.932;0.051;0.03	B;B;B;B	0.36335	0.115;0.222;0.082;0.034	T	0.41466	-0.9507	10	0.46703	T	0.11	-16.0771	18.6637	0.91481	0.0:1.0:0.0:0.0	.	60;60;60;60	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	G	60	ENSP00000325677:A60G;ENSP00000350563:A60G;ENSP00000384942:A60G	ENSP00000325677:A60G	A	+	2	0	RNF40	30681986	0.999000	0.42202	0.994000	0.49952	0.981000	0.71138	3.772000	0.55325	2.698000	0.92095	0.563000	0.77884	GCA	RNF40	-	NULL	ENSG00000103549		0.532	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	74	0.00	0	C	NM_014771		30774485	30774485	+1	no_errors	ENST00000324685	ensembl	human	known	69_37n	missense	57	14.93	10	SNP	0.999	G
RPGR	6103	genome.wustl.edu	37	X	38145671	38145672	+	Intron	INS	-	-	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:38145671_38145672insT	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Frame_Shift_Ins_p.E861fs|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcttccccttcttcctcccctt	0.604																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+674->A	X.37:g.38145673_38145673dupT			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Ins	INS	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E860fs	ENST00000339363.3	37	c.2581_2580		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.604	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		12	0.00	0	-	NM_000328		38145671	38145672	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	frame_shift_ins	15	40.00	10	INS	0.183:0.047	T
RRM2	6241	genome.wustl.edu	37	2	10269405	10269405	+	Silent	SNP	A	A	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:10269405A>T	ENST00000304567.5	+	10	1131	c.1062A>T	c.(1060-1062)tcA>tcT	p.S354S	RRM2_ENST00000360566.2_Silent_p.S414S	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	354					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	AGAATATTTCACTGGAAGGAA	0.393																																						dbGAP											0													86.0	85.0	86.0					2																	10269405		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.1062A>T	2.37:g.10269405A>T			B2R9B5|J3KP43|Q5WRU7	Silent	SNP	pfam_Ribonucl_Rdtase_small,superfamily_Ferritin/RR-like	p.S414	ENST00000304567.5	37	c.1242	CCDS1669.1	2																																																																																			RRM2	-	superfamily_Ferritin/RR-like	ENSG00000171848		0.393	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2	HGNC	protein_coding	OTTHUMT00000364902.2	63	0.00	0	A			10269405	10269405	+1	no_errors	ENST00000360566	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	0.981	T
SCRIB	23513	genome.wustl.edu	37	8	144886093	144886093	+	Silent	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr8:144886093C>A	ENST00000320476.3	-	23	3144	c.3138G>T	c.(3136-3138)ctG>ctT	p.L1046L	SCRIB_ENST00000377533.3_Silent_p.L965L|SCRIB_ENST00000356994.2_Silent_p.L1046L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1046	Interaction with ARHGEF7.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			TGCGAGCGGCCAGGCCCCGCG	0.692																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0													13.0	16.0	15.0					8																	144886093		2159	4248	6407	-	-	-	SO:0001819	synonymous_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.3138G>T	8.37:g.144886093C>A			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G42C	ENST00000320476.3	37	c.124	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	C	7.795	0.712433	0.15306	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.35	-2.3	0.06785	.	.	.	.	.	T	0.38772	0.1053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	.	1.2675	0.02014	0.2648:0.3555:0.2166:0.1631	.	.	.	.	C	42	.	.	G	-	1	0	SCRIB	144958081	0.983000	0.35010	0.970000	0.41538	0.752000	0.42762	0.251000	0.18257	-0.853000	0.04136	-1.558000	0.00888	GGC	SCRIB	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000180900		0.692	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	62	0.00	0	C	NM_015356		144886093	144886093	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526832	ensembl	human	novel	69_37n	missense	9	30.77	4	SNP	0.998	A
NTN5	126147	genome.wustl.edu	37	19	49176485	49176485	+	5'Flank	DEL	G	G	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:49176485delG	ENST00000270235.4	-	0	0				SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TCCAGCAGCAGGACAGCCCCG	0.711																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8			19.37:g.49176485delG	Exception_encountered		Q8N4X9|Q8WU63	RNA	DEL	-	NULL	ENST00000270235.4	37	NULL	CCDS33068.1	19																																																																																			SEC1P	-	-	ENSG00000232871		0.711	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC1P	HGNC	protein_coding	OTTHUMT00000466176.1	63	0.00	0	G	NM_145807		49176485	49176485	+1	no_errors	ENST00000430145	ensembl	human	known	69_37n	rna	14	12.50	2	DEL	0.000	-
SEH1L	81929	genome.wustl.edu	37	18	12955467	12955467	+	Silent	SNP	T	T	C			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr18:12955467T>C	ENST00000262124.11	+	3	295	c.168T>C	c.(166-168)caT>caC	p.H56H	SEH1L_ENST00000399892.2_Silent_p.H56H	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	56					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.H56H(2)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGACACATAGTGGATCTG	0.398																																						dbGAP											2	Substitution - coding silent(2)	prostate(1)|central_nervous_system(1)											150.0	135.0	140.0					18																	12955467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.168T>C	18.37:g.12955467T>C			A8K5B1|Q8NFU6|Q96MH3|Q9C069	Silent	SNP	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.H56	ENST00000262124.11	37	c.168	CCDS45832.1	18																																																																																			SEH1L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085415		0.398	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1	114	0.87	1	T	NM_031216		12955467	12955467	+1	no_errors	ENST00000399892	ensembl	human	known	69_37n	silent	84	12.50	12	SNP	0.994	C
SEZ6L2	26470	genome.wustl.edu	37	16	29910280	29910280	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:29910280T>A	ENST00000308713.5	-	1	588	c.61A>T	c.(61-63)Agc>Tgc	p.S21C	SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S21C|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S21C|ASPHD1_ENST00000308748.5_5'Flank|ASPHD1_ENST00000483405.1_5'Flank|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S21C	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	21					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGGACAGCTCAGCAGAATT	0.627																																						dbGAP											0													26.0	29.0	28.0					16																	29910280		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.61A>T	16.37:g.29910280T>A	ENSP00000312550:p.Ser21Cys		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S21C	ENST00000308713.5	37	c.61	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246993	0.80024	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.57273	1.39;1.39;1.39;0.41	4.58	4.58	0.56647	.	0.000000	0.56097	D	0.000037	T	0.56140	0.1965	N	0.24115	0.695	0.30866	N	0.732949	D;D;D;D;D;D	0.67145	0.996;0.992;0.992;0.996;0.992;0.996	D;D;D;D;D;D	0.76071	0.987;0.971;0.971;0.987;0.971;0.987	T	0.59118	-0.7514	10	0.49607	T	0.09	.	10.6553	0.45671	0.0:0.0:0.0:1.0	.	21;21;21;21;21;21	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	C	21	ENSP00000310206:S21C;ENSP00000312550:S21C;ENSP00000319215:S21C;ENSP00000439412:S21C	ENSP00000312550:S21C	S	-	1	0	SEZ6L2	29817781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.481000	0.45215	1.822000	0.53115	0.533000	0.62120	AGC	SEZ6L2	-	NULL	ENSG00000174938		0.627	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	153	0.00	0	T	NM_012410		29910280	29910280	-1	no_errors	ENST00000308713	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	A
SGCG	6445	genome.wustl.edu	37	13	23808751	23808751	+	Splice_Site	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr13:23808751C>A	ENST00000218867.3	+	3	321	c.197C>A	c.(196-198)gCa>gAa	p.A66E	SGCG_ENST00000545013.1_Splice_Site_p.A66E|SGCG_ENST00000537476.1_Splice_Site_p.A66E	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	66					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TTTTAACAGGCAGGAATGGGC	0.348																																						dbGAP											0													75.0	78.0	77.0					13																	23808751		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.196-1C>A	13.37:g.23808751C>A			Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.A66E	ENST00000218867.3	37	c.197	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.224486	0.01530	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.93906	-3.31;-3.31;-3.31	5.55	1.97	0.26223	.	0.742336	0.14069	N	0.343528	T	0.77928	0.4204	N	0.03050	-0.425	0.22001	N	0.999424	B	0.02656	0.0	B	0.04013	0.001	T	0.65018	-0.6270	10	0.06625	T	0.88	-0.2367	5.1687	0.15099	0.0:0.5491:0.1391:0.3118	.	66	Q13326	SGCG_HUMAN	E	66	ENSP00000218867:A66E;ENSP00000444100:A66E;ENSP00000442232:A66E	ENSP00000218867:A66E	A	+	2	0	SGCG	22706751	0.991000	0.36638	0.778000	0.31720	0.160000	0.22226	0.308000	0.19314	0.059000	0.16252	-0.482000	0.04802	GCA	SGCG	-	pfam_Sarcoglycan	ENSG00000102683		0.348	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	36	0.00	0	C	NM_000231	Missense_Mutation	23808751	23808751	+1	no_errors	ENST00000218867	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.969	A
SIGLEC1	6614	genome.wustl.edu	37	20	3674885	3674885	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr20:3674885G>T	ENST00000344754.4	-	12	3238	c.3239C>A	c.(3238-3240)gCt>gAt	p.A1080D	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1080D	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1080	Ig-like C2-type 10.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCGAAGTCAGCTGAGGCCGA	0.567																																						dbGAP											0													63.0	53.0	56.0					20																	3674885		2182	4236	6418	-	-	-	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3239C>A	20.37:g.3674885G>T	ENSP00000341141:p.Ala1080Asp		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A1080D	ENST00000344754.4	37	c.3239	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430976	0.25726	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.71222	-0.55;-0.55	5.3	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.175404	0.27710	N	0.018179	D	0.84275	0.5436	M	0.91038	3.17	0.09310	N	1	P;D	0.89917	0.934;1.0	P;D	0.79108	0.661;0.992	T	0.73956	-0.3819	10	0.62326	D	0.03	.	8.0251	0.30431	0.2382:0.0:0.7618:0.0	.	1080;1080	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	D	1080	ENSP00000341141:A1080D;ENSP00000202578:A1080D	ENSP00000202578:A1080D	A	-	2	0	SIGLEC1	3622885	0.012000	0.17670	0.006000	0.13384	0.012000	0.07955	1.345000	0.33953	1.381000	0.46364	0.561000	0.74099	GCT	SIGLEC1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000088827		0.567	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	166	0.00	0	G	NM_023068		3674885	3674885	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	missense	95	12.84	14	SNP	0.002	T
SLC25A43	203427	genome.wustl.edu	37	X	118587931	118587932	+	3'UTR	INS	-	-	G			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:118587931_118587932insG	ENST00000217909.7	+	0	2273_2274				Y_RNA_ENST00000516338.1_RNA|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTTTTTTGAAATTTGAAGCATC	0.347																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.*904->G	X.37:g.118587931_118587932insG			O75854|Q8N9L5	RNA	INS	-	NULL	ENST00000217909.7	37	NULL	CCDS14577.1	X																																																																																			SLC25A43	-	-	ENSG00000077713		0.347	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A43	HGNC	protein_coding	OTTHUMT00000058028.1	29	0.00	0	-	NM_145305		118587931	118587932	+1	no_errors	ENST00000488158	ensembl	human	known	69_37n	rna	18	18.18	4	INS	0.033:0.040	G
SLC27A4	10999	genome.wustl.edu	37	9	131117349	131117349	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr9:131117349G>T	ENST00000300456.4	+	10	1459	c.1342G>T	c.(1342-1344)Gtg>Ttg	p.V448L	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	448					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GGGCCAGCTGGTGGGCCGCAT	0.612																																					Pancreas(107;1554 2241 10946 12953)	dbGAP											0													23.0	24.0	23.0					9																	131117349		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1342G>T	9.37:g.131117349G>T	ENSP00000300456:p.Val448Leu		A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V448L	ENST00000300456.4	37	c.1342	CCDS6899.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054811	0.75960	.	.	ENSG00000167114	ENST00000300456	T	0.38560	1.13	5.24	5.24	0.73138	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.27975	0.815	0.80722	D	1	P	0.36392	0.551	P	0.46419	0.516	T	0.07654	-1.0761	10	0.14656	T	0.56	-26.8485	18.01	0.89220	0.0:0.0:1.0:0.0	.	448	Q6P1M0	S27A4_HUMAN	L	448	ENSP00000300456:V448L	ENSP00000300456:V448L	V	+	1	0	SLC27A4	130157170	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.448000	0.97600	2.724000	0.93272	0.561000	0.74099	GTG	SLC27A4	-	pfam_AMP-dep_Synth/Lig	ENSG00000167114		0.612	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	HGNC	protein_coding	OTTHUMT00000054432.2	103	0.00	0	G			131117349	131117349	+1	no_errors	ENST00000300456	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	T
SLC8A2	6543	genome.wustl.edu	37	19	47969528	47969528	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:47969528C>T	ENST00000236877.6	-	2	528	c.133G>A	c.(133-135)Ggg>Agg	p.G45R	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	45					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGGTAGGACCCCTGGCAGCCC	0.731																																						dbGAP											0													9.0	9.0	9.0					19																	47969528		2190	4270	6460	-	-	-	SO:0001583	missense	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.133G>A	19.37:g.47969528C>T	ENSP00000236877:p.Gly45Arg		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.G45R	ENST00000236877.6	37	c.133	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350727	0.61183	.	.	ENSG00000118160	ENST00000236877	T	0.32272	1.46	4.25	4.25	0.50352	.	0.402651	0.22338	N	0.061364	T	0.25865	0.0630	L	0.51914	1.62	0.41301	D	0.987042	B	0.06786	0.001	B	0.06405	0.002	T	0.08700	-1.0709	10	0.39692	T	0.17	.	7.9176	0.29827	0.0:0.8903:0.0:0.1097	.	45	Q9UPR5	NAC2_HUMAN	R	45	ENSP00000236877:G45R	ENSP00000236877:G45R	G	-	1	0	SLC8A2	52661340	0.195000	0.23338	1.000000	0.80357	0.955000	0.61496	3.341000	0.52151	2.210000	0.71456	0.462000	0.41574	GGG	SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.731	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	30	0.00	0	C			47969528	47969528	-1	no_errors	ENST00000236877	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.225	T
SMC3	9126	genome.wustl.edu	37	10	112360269	112360269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr10:112360269G>T	ENST00000361804.4	+	22	2626	c.2500G>T	c.(2500-2502)Gag>Tag	p.E834*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	834					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTATCTCAATGAGAATCTGAG	0.338																																						dbGAP											0													71.0	79.0	76.0					10																	112360269		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2500G>T	10.37:g.112360269G>T	ENSP00000354720:p.Glu834*		A8K156|O60464|Q5T482	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E834*	ENST00000361804.4	37	c.2500	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.907622	0.98998	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	20.0755	0.97742	0.0:0.0:1.0:0.0	.	.	.	.	X	834	.	ENSP00000354720:E834X	E	+	1	0	SMC3	112350259	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.749000	0.94314	0.460000	0.39030	GAG	SMC3	-	pfam_RecF/RecN/SMC	ENSG00000108055		0.338	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	91	0.00	0	G	NM_005445		112360269	112360269	+1	no_errors	ENST00000361804	ensembl	human	known	69_37n	nonsense	92	12.96	14	SNP	1.000	T
SPC24	147841	genome.wustl.edu	37	19	11257859	11257859	+	Nonstop_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:11257859C>A	ENST00000592540.1	-	5	625	c.594G>T	c.(592-594)taG>taT	p.*198Y		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	0					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleolus (GO:0005730)|nucleus (GO:0005634)				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						AGGCTCCTGGCTACCACTCGG	0.542																																						dbGAP											0													17.0	19.0	19.0					19																	11257859		1909	4067	5976	-	-	-	SO:0001578	stop_lost	0			AK075287	CCDS45974.1	19p13.2	2013-06-05	2013-06-05	2007-03-02		ENSG00000161888			26913	protein-coding gene	gene with protein product		609394	"""spindle pole body component 24 homolog (S. cerevisiae)"", ""SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC24			Standard	NM_182513		Approved	FLJ90806	uc002mql.2	Q8NBT2		ENST00000592540.1:c.594G>T	19.37:g.11257859C>A			B4DZZ7|C9JGC4	Missense_Mutation	SNP	NULL	p.S110I	ENST00000592540.1	37	c.329	CCDS45974.1	19	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251124	0.22880	.	.	ENSG00000161888	ENST00000429831;ENST00000423327	.	.	.	4.8	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3092	0.15821	0.0:0.5668:0.0:0.4332	.	.	.	.	Y	152;198	.	.	X	-	3	2	SPC24	11118859	0.788000	0.28762	0.419000	0.26584	0.038000	0.13279	0.489000	0.22387	0.431000	0.26258	-0.145000	0.13849	TAG	SPC24	-	NULL	ENSG00000161888		0.542	SPC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPC24	HGNC	protein_coding	OTTHUMT00000453059.1	53	0.00	0	C	NM_182513		11257859	11257859	-1	no_start_codon:no_stop_codon	ENST00000586708	ensembl	human	putative	69_37n	missense	14	22.22	4	SNP	0.590	A
SRM	6723	genome.wustl.edu	37	1	11116759	11116759	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:11116759C>A	ENST00000376957.2	-	4	517	c.437G>T	c.(436-438)aGc>aTc	p.S146I		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	146	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CAGCTTCGAGCTAGAGTAGCC	0.557																																						dbGAP											0													100.0	88.0	92.0					1																	11116759		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.437G>T	1.37:g.11116759C>A	ENSP00000366156:p.Ser146Ile		B1AKP9|Q15511	Missense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.S146I	ENST00000376957.2	37	c.437	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935240	0.92458	.	.	ENSG00000116649	ENST00000376957	T	0.77229	-1.08	5.35	5.35	0.76521	.	0.084941	0.85682	D	0.000000	D	0.87755	0.6257	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.88803	0.3286	10	0.87932	D	0	.	18.4201	0.90587	0.0:1.0:0.0:0.0	.	146	P19623	SPEE_HUMAN	I	146	ENSP00000366156:S146I	ENSP00000366156:S146I	S	-	2	0	SRM	11039346	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.817000	0.62650	2.663000	0.90544	0.561000	0.74099	AGC	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.557	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	120	0.00	0	C	NM_003132		11116759	11116759	-1	no_errors	ENST00000376957	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	A
SRPR	6734	genome.wustl.edu	37	11	126134965	126134965	+	Silent	SNP	A	A	G			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:126134965A>G	ENST00000332118.6	-	11	1568	c.1414T>C	c.(1414-1416)Ttg>Ctg	p.L472L	SRPR_ENST00000532259.1_Silent_p.L444L|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	472					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGGGCACTCAAACGCCGGGTG	0.552																																						dbGAP											0													69.0	62.0	65.0					11																	126134965		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1414T>C	11.37:g.126134965A>G			A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Silent	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.L472	ENST00000332118.6	37	c.1414	CCDS31717.1	11																																																																																			SRPR	-	pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	ENSG00000182934		0.552	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	114	0.00	0	A	NM_003139		126134965	126134965	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	silent	45	22.41	13	SNP	0.922	G
SRPR	6734	genome.wustl.edu	37	11	126134965	126134965	+	Silent	SNP	A	A	G			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:126134965A>G	ENST00000332118.6	-	11	1568	c.1414T>C	c.(1414-1416)Ttg>Ctg	p.L472L	SRPR_ENST00000532259.1_Silent_p.L444L|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	472					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGGGCACTCAAACGCCGGGTG	0.552																																						dbGAP											0													69.0	62.0	65.0					11																	126134965		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1414T>C	11.37:g.126134965A>G			A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Silent	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.L472	ENST00000332118.6	37	c.1414	CCDS31717.1	11																																																																																			SRPR	-	pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	ENSG00000182934		0.552	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	114	0.00	0	A	NM_003139		126134965	126134965	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	silent	57	24.00	18	SNP	0.922	G
SYNGAP1	8831	genome.wustl.edu	37	6	33408528	33408528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr6:33408528G>T	ENST00000418600.2	+	11	1800	c.1699G>T	c.(1699-1701)Gag>Tag	p.E567*	SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.E508*|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.E567*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	567	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGAGCTGAAGGAGGTGTTTGC	0.642																																						dbGAP											0													24.0	24.0	24.0					6																	33408528		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1699G>T	6.37:g.33408528G>T	ENSP00000403636:p.Glu567*		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Nonsense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E567*	ENST00000418600.2	37	c.1699	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	38	7.275011	0.98179	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	.	.	.	5.24	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.6988	0.40173	0.1679:0.0:0.8321:0.0	.	.	.	.	X	567;567;567;508	.	ENSP00000293748:E567X	E	+	1	0	SYNGAP1	33516506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.808000	0.86044	0.801000	0.34066	0.655000	0.94253	GAG	SYNGAP1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000197283		0.642	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	113	0.00	0	G	XM_166407		33408528	33408528	+1	no_errors	ENST00000418600	ensembl	human	known	69_37n	nonsense	35	10.26	4	SNP	1.000	T
SZT2	23334	genome.wustl.edu	37	1	43898263	43898263	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:43898263G>T	ENST00000562955.1	+	37	5347	c.5347G>T	c.(5347-5349)Gtg>Ttg	p.V1783L	SZT2_ENST00000372442.1_Missense_Mutation_p.V941L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1840					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGCCCCGCGTGCCACAGGG	0.602																																						dbGAP											0													57.0	62.0	60.0					1																	43898263		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5347G>T	1.37:g.43898263G>T	ENSP00000457168:p.Val1783Leu		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.V1783L	ENST00000562955.1	37	c.5347	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	2.176	-0.388810	0.04932	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.23	0.787	0.18596	.	0.912172	0.09284	N	0.823285	T	0.08935	0.0221	N	0.02011	-0.69	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.35450	-0.9788	9	0.05351	T	0.99	.	4.9638	0.14080	0.1282:0.4984:0.2882:0.0851	.	1783	Q5T011-5	.	L	941	.	ENSP00000361519:V941L	V	+	1	0	SZT2	43670850	0.002000	0.14202	0.968000	0.41197	0.893000	0.52053	-0.034000	0.12225	0.224000	0.20940	-1.205000	0.01647	GTG	SZT2	-	NULL	ENSG00000198198		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	62	0.00	0	G	NM_015284		43898263	43898263	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	20	13.04	3	SNP	0.906	T
TBX10	347853	genome.wustl.edu	37	11	67399312	67399312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:67399312G>A	ENST00000335385.3	-	8	1009	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	308					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GGCAGCAGCTGATGATGGAGC	0.617																																						dbGAP											0													62.0	77.0	72.0					11																	67399312		2190	4289	6479	-	-	-	SO:0001587	stop_gained	0			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.922C>T	11.37:g.67399312G>A	ENSP00000335191:p.Gln308*		Q14D64|Q86XS3	Nonsense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.Q308*	ENST00000335385.3	37	c.922	CCDS31621.1	11	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282574	0.59867	.	.	ENSG00000167800	ENST00000335385	.	.	.	3.86	2.94	0.34122	.	2.485800	0.01547	N	0.019484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	7.3806	0.26854	0.1226:0.0:0.8774:0.0	.	.	.	.	X	308	.	ENSP00000335191:Q308X	Q	-	1	0	TBX10	67155888	0.897000	0.30589	0.778000	0.31720	0.463000	0.32649	2.533000	0.45667	0.972000	0.38314	0.561000	0.74099	CAG	TBX10	-	NULL	ENSG00000167800		0.617	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	219	0.00	0	G	NM_005995		67399312	67399312	-1	no_errors	ENST00000335385	ensembl	human	known	69_37n	nonsense	44	26.67	16	SNP	0.815	A
TBX10	347853	genome.wustl.edu	37	11	67399312	67399312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:67399312G>A	ENST00000335385.3	-	8	1009	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	308					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GGCAGCAGCTGATGATGGAGC	0.617																																						dbGAP											0													62.0	77.0	72.0					11																	67399312		2190	4289	6479	-	-	-	SO:0001587	stop_gained	0			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.922C>T	11.37:g.67399312G>A	ENSP00000335191:p.Gln308*		Q14D64|Q86XS3	Nonsense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.Q308*	ENST00000335385.3	37	c.922	CCDS31621.1	11	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282574	0.59867	.	.	ENSG00000167800	ENST00000335385	.	.	.	3.86	2.94	0.34122	.	2.485800	0.01547	N	0.019484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	7.3806	0.26854	0.1226:0.0:0.8774:0.0	.	.	.	.	X	308	.	ENSP00000335191:Q308X	Q	-	1	0	TBX10	67155888	0.897000	0.30589	0.778000	0.31720	0.463000	0.32649	2.533000	0.45667	0.972000	0.38314	0.561000	0.74099	CAG	TBX10	-	NULL	ENSG00000167800		0.617	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	219	0.00	0	G	NM_005995		67399312	67399312	-1	no_errors	ENST00000335385	ensembl	human	known	69_37n	nonsense	170	26.72	62	SNP	0.815	A
TBX10	347853	genome.wustl.edu	37	11	67399343	67399343	+	Silent	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:67399343G>A	ENST00000335385.3	-	8	978	c.891C>T	c.(889-891)tcC>tcT	p.S297S	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	297					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TCTTGGAGGTGGAAGCTGAAG	0.622																																						dbGAP											0													77.0	101.0	93.0					11																	67399343		2194	4282	6476	-	-	-	SO:0001819	synonymous_variant	0			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.891C>T	11.37:g.67399343G>A			Q14D64|Q86XS3	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.S297	ENST00000335385.3	37	c.891	CCDS31621.1	11																																																																																			TBX10	-	NULL	ENSG00000167800		0.622	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	149	0.00	0	G	NM_005995		67399343	67399343	-1	no_errors	ENST00000335385	ensembl	human	known	69_37n	silent	37	28.85	15	SNP	0.000	A
TBX10	347853	genome.wustl.edu	37	11	67399343	67399343	+	Silent	SNP	G	G	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr11:67399343G>A	ENST00000335385.3	-	8	978	c.891C>T	c.(889-891)tcC>tcT	p.S297S	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	297					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TCTTGGAGGTGGAAGCTGAAG	0.622																																						dbGAP											0													77.0	101.0	93.0					11																	67399343		2194	4282	6476	-	-	-	SO:0001819	synonymous_variant	0			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.891C>T	11.37:g.67399343G>A			Q14D64|Q86XS3	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.S297	ENST00000335385.3	37	c.891	CCDS31621.1	11																																																																																			TBX10	-	NULL	ENSG00000167800		0.622	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	149	0.00	0	G	NM_005995		67399343	67399343	-1	no_errors	ENST00000335385	ensembl	human	known	69_37n	silent	151	24.50	49	SNP	0.000	A
TIAM2	26230	genome.wustl.edu	37	6	155450781	155450781	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr6:155450781G>A	ENST00000461783.3	+	6	1697	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	TIAM2_ENST00000360366.4_Missense_Mutation_p.G142R|TIAM2_ENST00000529824.2_Missense_Mutation_p.G142R|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.G142R|TIAM2_ENST00000456144.1_Missense_Mutation_p.G142R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	142					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAACTGCTACGGGAGGAATGA	0.562																																						dbGAP											0													75.0	66.0	69.0					6																	155450781		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.424G>A	6.37:g.155450781G>A	ENSP00000437188:p.Gly142Arg		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.G142R	ENST00000461783.3	37	c.424	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	9.515	1.106721	0.20714	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.55;3.43;3.5;3.55;3.57;3.5	4.73	3.84	0.44239	.	0.509864	0.21136	N	0.079570	T	0.03651	0.0104	M	0.63428	1.95	0.80722	D	1	B	0.32128	0.357	B	0.23716	0.048	T	0.16808	-1.0390	10	0.87932	D	0	.	12.8547	0.57878	0.0:0.0:0.8366:0.1634	.	142	Q8IVF5	TIAM2_HUMAN	R	142;388;142;142;142;142;142;142	ENSP00000437188:G142R;ENSP00000434901:G142R;ENSP00000407746:G142R;ENSP00000327315:G142R;ENSP00000353528:G142R;ENSP00000433348:G142R	ENSP00000327315:G142R	G	+	1	0	TIAM2	155492473	0.872000	0.30054	0.175000	0.22980	0.106000	0.19336	1.472000	0.35376	1.084000	0.41184	-0.521000	0.04368	GGG	TIAM2	-	NULL	ENSG00000146426		0.562	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	46	0.00	0	G	NM_012454		155450781	155450781	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.832	A
TIMP1	7076	genome.wustl.edu	37	X	47442869	47442869	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:47442869G>A	ENST00000218388.4	+	2	225	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000377018.2_5'UTR|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_Missense_Mutation_p.A19T|TIMP1_ENST00000377017.1_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	19					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						GTGGCTGATAGCCCCCAGCAG	0.652																																						dbGAP											0													98.0	81.0	87.0					X																	47442869		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.55G>A	X.37:g.47442869G>A	ENSP00000218388:p.Ala19Thr		Q14252|Q9UCU1	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.A19T	ENST00000218388.4	37	c.55	CCDS14281.1	X	.	.	.	.	.	.	.	.	.	.	g	10.05	1.242908	0.22796	.	.	ENSG00000102265	ENST00000218388;ENST00000456754;ENST00000441738	D;T;T	0.94184	-3.37;-1.06;-1.07	3.29	1.39	0.22231	.	0.809052	0.10490	N	0.668509	D	0.84229	0.5426	N	0.17278	0.47	0.41368	D	0.987474	B	0.06786	0.001	B	0.06405	0.002	T	0.70601	-0.4827	10	0.15066	T	0.55	.	6.565	0.22507	0.2809:0.0:0.7191:0.0	.	19	P01033	TIMP1_HUMAN	T	19;19;31	ENSP00000218388:A19T;ENSP00000406671:A19T;ENSP00000405380:A31T	ENSP00000218388:A19T	A	+	1	0	TIMP1	47327813	0.027000	0.19231	0.904000	0.35570	0.716000	0.41182	0.831000	0.27476	0.229000	0.21039	-0.312000	0.09012	GCC	TIMP1	-	NULL	ENSG00000102265		0.652	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP1	HGNC	protein_coding	OTTHUMT00000056423.1	122	0.00	0	G	NM_003254		47442869	47442869	+1	no_errors	ENST00000218388	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	0.472	A
TIMP1	7076	genome.wustl.edu	37	X	47442869	47442869	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chrX:47442869G>A	ENST00000218388.4	+	2	225	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000377018.2_5'UTR|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_Missense_Mutation_p.A19T|TIMP1_ENST00000377017.1_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	19					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						GTGGCTGATAGCCCCCAGCAG	0.652																																						dbGAP											0													98.0	81.0	87.0					X																	47442869		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.55G>A	X.37:g.47442869G>A	ENSP00000218388:p.Ala19Thr		Q14252|Q9UCU1	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.A19T	ENST00000218388.4	37	c.55	CCDS14281.1	X	.	.	.	.	.	.	.	.	.	.	g	10.05	1.242908	0.22796	.	.	ENSG00000102265	ENST00000218388;ENST00000456754;ENST00000441738	D;T;T	0.94184	-3.37;-1.06;-1.07	3.29	1.39	0.22231	.	0.809052	0.10490	N	0.668509	D	0.84229	0.5426	N	0.17278	0.47	0.41368	D	0.987474	B	0.06786	0.001	B	0.06405	0.002	T	0.70601	-0.4827	10	0.15066	T	0.55	.	6.565	0.22507	0.2809:0.0:0.7191:0.0	.	19	P01033	TIMP1_HUMAN	T	19;19;31	ENSP00000218388:A19T;ENSP00000406671:A19T;ENSP00000405380:A31T	ENSP00000218388:A19T	A	+	1	0	TIMP1	47327813	0.027000	0.19231	0.904000	0.35570	0.716000	0.41182	0.831000	0.27476	0.229000	0.21039	-0.312000	0.09012	GCC	TIMP1	-	NULL	ENSG00000102265		0.652	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP1	HGNC	protein_coding	OTTHUMT00000056423.1	122	0.00	0	G	NM_003254		47442869	47442869	+1	no_errors	ENST00000218388	ensembl	human	known	69_37n	missense	114	20.83	30	SNP	0.472	A
TINAGL1	64129	genome.wustl.edu	37	1	32042797	32042797	+	Silent	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:32042797C>A	ENST00000271064.7	+	2	124	c.48C>A	c.(46-48)ggC>ggA	p.G16G	RP11-73M7.1_ENST00000435872.1_RNA|TINAGL1_ENST00000537531.1_Silent_p.G16G|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Silent_p.G16G|TINAGL1_ENST00000441210.2_Silent_p.G16G	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	16					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGCTGGCTGGCCACTTGGCTC	0.711																																						dbGAP											0													9.0	11.0	11.0					1																	32042797		2152	4226	6378	-	-	-	SO:0001819	synonymous_variant	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.48C>A	1.37:g.32042797C>A			A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.G16	ENST00000271064.7	37	c.48	CCDS343.1	1																																																																																			TINAGL1	-	NULL	ENSG00000142910		0.711	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1	61	0.00	0	C	NM_022164		32042797	32042797	+1	no_errors	ENST00000271064	ensembl	human	known	69_37n	silent	11	21.43	3	SNP	0.488	A
TJP1	7082	genome.wustl.edu	37	15	29996438	29996438	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr15:29996438G>A	ENST00000346128.6	-	27	5614	c.5140C>T	c.(5140-5142)Cgc>Tgc	p.R1714C	TJP1_ENST00000400011.2_Missense_Mutation_p.R1638C|TJP1_ENST00000545208.2_Missense_Mutation_p.R1634C|TJP1_ENST00000356107.6_Missense_Mutation_p.R1714C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1714	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGGTAAGCGCAGCTCCACA	0.532																																					Melanoma(77;681 1843 6309 6570)	dbGAP											0													48.0	53.0	51.0					15																	29996438		2028	4191	6219	-	-	-	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.5140C>T	15.37:g.29996438G>A	ENSP00000281537:p.Arg1714Cys		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.R1714C	ENST00000346128.6	37	c.5140	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.074909	0.94000	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.45668	0.89;0.89	5.18	5.18	0.71444	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.62723	1.935	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;0.998;1.0;0.95	T	0.67300	-0.5705	10	0.87932	D	0	.	18.695	0.91598	0.0:0.0:1.0:0.0	.	1707;1634;1714;1638	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	C	1714;1638;1714;1634;1634	ENSP00000281537:R1714C;ENSP00000382890:R1638C	ENSP00000281537:R1714C	R	-	1	0	TJP1	27783730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.424000	0.82194	0.467000	0.42956	CGC	TJP1	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000104067		0.532	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	51	0.00	0	G	NM_003257		29996438	29996438	-1	no_errors	ENST00000346128	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	A
TONSL	4796	genome.wustl.edu	37	8	145655789	145655789	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr8:145655789delG	ENST00000409379.3	-	25	3970	c.3941delC	c.(3940-3942)tcafs	p.S1314fs	VPS28_ENST00000292510.4_5'Flank|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_5'Flank	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1314					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCACTCACCTGACAGGCCAAG	0.607																																						dbGAP											0													59.0	49.0	53.0					8																	145655789		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3941delC	8.37:g.145655789delG	ENSP00000386239:p.Ser1314fs		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S1314fs	ENST00000409379.3	37	c.3941	CCDS34968.2	8																																																																																			TONSL	-	NULL	ENSG00000160949		0.607	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	48	0.00	0	G	NM_013432		145655789	145655789	-1	no_errors	ENST00000409379	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
TOR2A	27433	genome.wustl.edu	37	9	130496724	130496724	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr9:130496724delG	ENST00000373284.5	-	2	317	c.271delC	c.(271-273)ctgfs	p.L91fs	TOR2A_ENST00000336067.6_Frame_Shift_Del_p.L91fs|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373281.5_Frame_Shift_Del_p.L91fs	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	91					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						CAGCCGTGCAGGGAGAGGACC	0.682											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													29.0	32.0	31.0					9																	130496724		2202	4296	6498	-	-	-	SO:0001589	frameshift_variant	0			AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.271delC	9.37:g.130496724delG	ENSP00000362381:p.Leu91fs	1580	A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Frame_Shift_Del	DEL	pirsf_Torsin_subgr,pfam_Torsin,smart_AAA+_ATPase,prints_Chaprnin_ClpA/B	p.L91fs	ENST00000373284.5	37	c.271	CCDS43879.1	9																																																																																			TOR2A	-	pirsf_Torsin_subgr,pfam_Torsin,smart_AAA+_ATPase,prints_Chaprnin_ClpA/B	ENSG00000160404		0.682	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR2A	HGNC	protein_coding	OTTHUMT00000054205.1	78	0.00	0	G	NM_130459		130496724	130496724	-1	no_errors	ENST00000373284	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	1.000	-
TP53	7157	genome.wustl.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr17:7578500G>A	ENST00000269305.4	-	5	619	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCCACAGCTGCACAGGGCAG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	65	Substitution - Nonsense(40)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(2)	lung(11)|upper_aerodigestive_tract(10)|oesophagus(8)|breast(8)|endometrium(6)|ovary(5)|bone(4)|large_intestine(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|liver(1)|skin(1)|prostate(1)											57.0	56.0	57.0					17																	7578500		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.430C>T	17.37:g.7578500G>A	ENSP00000269305:p.Gln144*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q144*	ENST00000269305.4	37	c.430	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071217	0.55646	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.121732	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.9139	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	144;144;144;144;144;144;133;51;12;51;12;144	.	ENSP00000269305:Q144X	Q	-	1	0	TP53	7519225	1.000000	0.71417	0.908000	0.35775	0.017000	0.09413	7.953000	0.87836	2.733000	0.93635	0.655000	0.94253	CAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	112	0.00	0	G	NM_000546		7578500	7578500	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	26	23.53	8	SNP	0.999	A
TP53	7157	genome.wustl.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr17:7578500G>A	ENST00000269305.4	-	5	619	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCCACAGCTGCACAGGGCAG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	65	Substitution - Nonsense(40)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(2)	lung(11)|upper_aerodigestive_tract(10)|oesophagus(8)|breast(8)|endometrium(6)|ovary(5)|bone(4)|large_intestine(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|liver(1)|skin(1)|prostate(1)											57.0	56.0	57.0					17																	7578500		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.430C>T	17.37:g.7578500G>A	ENSP00000269305:p.Gln144*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q144*	ENST00000269305.4	37	c.430	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071217	0.55646	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.121732	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.9139	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	144;144;144;144;144;144;133;51;12;51;12;144	.	ENSP00000269305:Q144X	Q	-	1	0	TP53	7519225	1.000000	0.71417	0.908000	0.35775	0.017000	0.09413	7.953000	0.87836	2.733000	0.93635	0.655000	0.94253	CAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	112	0.00	0	G	NM_000546		7578500	7578500	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	50	24.24	16	SNP	0.999	A
TPTE	7179	genome.wustl.edu	37	21	11011510	11011510	+	5'UTR	SNP	C	C	T			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr21:11011510C>T	ENST00000415664.2	-	0	1144							P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACGGCCACGCTATTCTGA	0.388																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.-2192G>A	21.37:g.11011510C>T			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP	-	NULL	ENST00000415664.2	37	NULL		21																																																																																			TPTE	-	-	ENSG00000166157		0.388	TPTE-006	KNOWN	basic	processed_transcript	TPTE	HGNC	protein_coding	OTTHUMT00000340030.1	8	0.00	0	C			11011510	11011510	-1	no_errors	ENST00000415664	ensembl	human	known	69_37n	rna	6	40.00	4	SNP	1.000	T
TRIOBP	11078	genome.wustl.edu	37	22	38151165	38151165	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr22:38151165G>A	ENST00000406386.3	+	14	5800	c.5545G>A	c.(5545-5547)Gcg>Acg	p.A1849T	TRIOBP_ENST00000407319.2_Missense_Mutation_p.A136T|TRIOBP_ENST00000403663.2_Missense_Mutation_p.A136T	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1849	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CACTGAGTACGCGGTGCAGCG	0.622																																						dbGAP											0													66.0	49.0	55.0					22																	38151165		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5545G>A	22.37:g.38151165G>A	ENSP00000384312:p.Ala1849Thr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A1849T	ENST00000406386.3	37	c.5545	CCDS43015.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.492768|3.492768	0.64074|0.64074	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000452519;ENST00000417857|ENST00000428075	T;T;T;T;T;T|.	0.74421|.	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84|.	4.77|4.77	-0.0736|-0.0736	0.13734|0.13734	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.21448|0.21448	0.665|0.665	0.09310|0.09310	N|N	1|1	D;D;D|.	0.76494|.	0.99;0.999;0.999|.	P;D;D|.	0.63877|.	0.581;0.916;0.919|.	T|T	0.29274|0.29274	-1.0017|-1.0017	9|5	0.46703|.	T|.	0.11|.	.|.	7.339|7.339	0.26625|0.26625	0.1461:0.2583:0.5956:0.0|0.1461:0.2583:0.5956:0.0	.|.	136;136;1849|.	F8W6V6;F2Z2W0;Q9H2D6|.	.;.;TARA_HUMAN|.	T|H	1849;136;136;95;65;65|89	ENSP00000384312:A1849T;ENSP00000383913:A136T;ENSP00000386026:A136T;ENSP00000396946:A95T;ENSP00000407542:A65T;ENSP00000387881:A65T|.	ENSP00000386026:A136T|.	A|R	+|+	1|2	0|0	TRIOBP|TRIOBP	36481111|36481111	0.139000|0.139000	0.22563|0.22563	0.085000|0.085000	0.20634|0.20634	0.907000|0.907000	0.53573|0.53573	1.640000|1.640000	0.37186|0.37186	0.088000|0.088000	0.17205|0.17205	0.655000|0.655000	0.94253|0.94253	GCG|CGC	TRIOBP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000100106		0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	121	0.00	0	G			38151165	38151165	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.002	A
TRMT44	152992	genome.wustl.edu	37	4	8479714	8479714	+	IGR	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr4:8479714G>T	ENST00000389737.4	+	0	2799				TRMT44_ENST00000511366.2_3'UTR	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CTCCCAAGGTGTCCCCCATGC	0.667																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935		4.37:g.8479714G>T			Q8NA95	RNA	SNP	-	NULL	ENST00000389737.4	37	NULL	CCDS3402.2	4																																																																																			TRMT44	-	-	ENSG00000155275		0.667	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	129	0.00	0	G	NM_152544		8479714	8479714	+1	no_errors	ENST00000511366	ensembl	human	known	69_37n	rna	35	10.26	4	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179428193	179428193	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:179428193T>C	ENST00000591111.1	-	276	77967	c.77743A>G	c.(77743-77745)Agt>Ggt	p.S25915G	TTN_ENST00000342992.6_Missense_Mutation_p.S24988G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S18683G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18616G|TTN_ENST00000460472.2_Missense_Mutation_p.S18491G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S27556G			Q8WZ42	TITIN_HUMAN	titin	25915	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGGCTCACTAGGTTCTCCC	0.502																																						dbGAP											0													77.0	77.0	77.0					2																	179428193		1985	4164	6149	-	-	-	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.77743A>G	2.37:g.179428193T>C	ENSP00000465570:p.Ser25915Gly		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.S24988G	ENST00000591111.1	37	c.74962		2	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266233	0.40095	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.85	5.85	0.93711	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87430	0.6175	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.999	D;D;D;D	0.79108	0.992;0.97;0.97;0.992	D	0.90189	0.4248	9	0.87932	D	0	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	18491;18616;18683;25915	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	24988;18491;18683;18616;18489	ENSP00000343764:S24988G;ENSP00000434586:S18491G;ENSP00000340554:S18683G;ENSP00000352154:S18616G	ENSP00000340554:S18683G	S	-	1	0	TTN	179136439	1.000000	0.71417	0.811000	0.32455	0.995000	0.86356	8.040000	0.89188	2.234000	0.73211	0.460000	0.39030	AGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.502	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	102	0.00	0	T	NM_133378		179428193	179428193	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	0.999	C
TTN	7273	genome.wustl.edu	37	2	179523055	179523056	+	Intron	INS	-	-	C			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:179523055_179523056insC	ENST00000591111.1	-	154	34579				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.P12552fs|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTTTCTGGGACAACTTCT	0.396																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.34354+375->G	2.37:g.179523055_179523056insC			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	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,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.P12552fs	ENST00000591111.1	37	c.37655_37654		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.396	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	15	0.00	0	-	NM_133378		179523055	179523056	-1	no_errors	ENST00000589042	ensembl	human	putative	69_37n	frame_shift_ins	8	27.27	3	INS	0.056:0.041	C
TTN	7273	genome.wustl.edu	37	2	179523058	179523061	+	Intron	DEL	ACAA	ACAA	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:179523058_179523061delACAA	ENST00000591111.1	-	154	34579				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.VV12550fs|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCTGGGACAACTTCTTGAGC	0.397																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.34354+370TTGT>-	2.37:g.179523058_179523061delACAA			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	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,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.V12550fs	ENST00000591111.1	37	c.37652_37649		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.397	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	16	0.00	0	ACAA	NM_133378		179523058	179523061	-1	no_errors	ENST00000589042	ensembl	human	putative	69_37n	frame_shift_del	8	27.27	3	DEL	0.056:0.058:0.204:0.347	-
UBR5	51366	genome.wustl.edu	37	8	103317446	103317446	+	Silent	SNP	C	C	A	rs199706370		TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr8:103317446C>A	ENST00000520539.1	-	21	3300	c.2694G>T	c.(2692-2694)gcG>gcT	p.A898A	UBR5_ENST00000220959.4_Silent_p.A898A|UBR5_ENST00000521922.1_Silent_p.A892A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	898					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTAAAACAACCGCTTGCTCAA	0.413																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													165.0	162.0	163.0					8																	103317446		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2694G>T	8.37:g.103317446C>A			B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	NULL	p.G14C	ENST00000520539.1	37	c.40	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145500	0.21288	.	.	ENSG00000104517	ENST00000519365	.	.	.	4.88	-9.76	0.00503	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.46298	D	0.998973	.	.	.	.	.	.	T	0.40459	-0.9562	4	.	.	.	.	2.9908	0.05982	0.1642:0.094:0.35:0.3917	.	.	.	.	C	14	.	.	G	-	1	0	UBR5	103386622	0.001000	0.12720	0.336000	0.25522	0.985000	0.73830	-2.100000	0.01345	-1.964000	0.01012	0.305000	0.20034	GGT	UBR5	-	NULL	ENSG00000104517		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	136	0.00	0	C	NM_015902		103317446	103317446	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519365	ensembl	human	putative	69_37n	missense	76	12.64	11	SNP	0.048	A
ULK4	54986	genome.wustl.edu	37	3	41756977	41756977	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:41756977G>T	ENST00000301831.4	-	24	3001	c.2539C>A	c.(2539-2541)Ccc>Acc	p.P847T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	847					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGCATCAGGGGGAGACACAAC	0.438																																						dbGAP											0													105.0	107.0	106.0					3																	41756977		1954	4154	6108	-	-	-	SO:0001583	missense	0			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2539C>A	3.37:g.41756977G>T	ENSP00000301831:p.Pro847Thr		A6NF15|Q8IW79|Q9NWV6|Q9UF96	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.P847T	ENST00000301831.4	37	c.2539	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536657	0.85812	.	.	ENSG00000168038	ENST00000301831	T	0.56275	0.47	5.72	5.72	0.89469	Armadillo-type fold (1);	0.064498	0.64402	U	0.000007	T	0.71333	0.3327	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.72411	-0.4302	10	0.87932	D	0	.	19.8774	0.96884	0.0:0.0:1.0:0.0	.	847	Q96C45	ULK4_HUMAN	T	847	ENSP00000301831:P847T	ENSP00000301831:P847T	P	-	1	0	ULK4	41731981	1.000000	0.71417	0.963000	0.40424	0.868000	0.49771	8.495000	0.90481	2.703000	0.92315	0.650000	0.86243	CCC	ULK4	-	superfamily_ARM-type_fold	ENSG00000168038		0.438	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	43	0.00	0	G	XM_929989		41756977	41756977	-1	no_errors	ENST00000301831	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	T
USP15	9958	genome.wustl.edu	37	12	62798352	62798352	+	3'UTR	DEL	A	A	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:62798352delA	ENST00000280377.5	+	0	3201				USP15_ENST00000393654.3_3'UTR|USP15_ENST00000353364.3_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15						BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATTGTCTCTTAATACATTTAC	0.289																																					Melanoma(181;615 2041 39364 49691 50001)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.*197A>-	12.37:g.62798352delA			Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	RNA	DEL	-	NULL	ENST00000280377.5	37	NULL	CCDS58251.1	12																																																																																			USP15	-	-	ENSG00000135655		0.289	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	21	0.00	0	A	NM_006313		62798352	62798352	+1	no_errors	ENST00000552346	ensembl	human	known	69_37n	rna	12	14.29	2	DEL	1.000	-
USP48	84196	genome.wustl.edu	37	1	22021696	22021696	+	Silent	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:22021696G>T	ENST00000308271.9	-	23	3394	c.2746C>A	c.(2746-2748)Cgg>Agg	p.R916R	USP48_ENST00000400301.1_Intron|USP48_ENST00000374732.3_Intron|USP48_ENST00000529637.1_Silent_p.R928R	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	916					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATCTTTTGCCGCTTTGTTCCA	0.378																																						dbGAP											0													131.0	124.0	126.0					1																	22021696		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2746C>A	1.37:g.22021696G>T			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.R916	ENST00000308271.9	37	c.2746	CCDS30623.1	1																																																																																			USP48	-	NULL	ENSG00000090686		0.378	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	49	0.00	0	G	NM_032236		22021696	22021696	-1	no_errors	ENST00000308271	ensembl	human	known	69_37n	silent	27	10.00	3	SNP	1.000	T
VEZT	55591	genome.wustl.edu	37	12	95693052	95693052	+	Intron	SNP	T	T	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr12:95693052T>A	ENST00000436874.1	+	12	1936				VEZT_ENST00000261219.6_Intron|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein						chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGCACTTTTTTCCTTCCGTCA	0.443																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1832-889T>A	12.37:g.95693052T>A			Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	RNA	SNP	-	NULL	ENST00000436874.1	37	NULL	CCDS44954.1	12																																																																																			VEZT	-	-	ENSG00000028203		0.443	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	47	0.00	0	T	NM_017599		95693052	95693052	+1	no_errors	ENST00000356859	ensembl	human	known	69_37n	rna	33	10.81	4	SNP	0.975	A
VWA3A	146177	genome.wustl.edu	37	16	22111563	22111563	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:22111563G>T	ENST00000389398.5	+	4	370	c.274G>T	c.(274-276)Gac>Tac	p.D92Y	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	92						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGACTCTGAAGACTGGCTTTC	0.512																																						dbGAP											0													74.0	67.0	69.0					16																	22111563		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.274G>T	16.37:g.22111563G>T	ENSP00000374049:p.Asp92Tyr		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D92Y	ENST00000389398.5	37	c.274	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600387	0.66332	.	.	ENSG00000175267	ENST00000389398	T	0.15139	2.45	5.42	5.42	0.78866	.	0.098130	0.43416	D	0.000573	T	0.31606	0.0802	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.62014	0.897	T	0.01428	-1.1357	10	0.87932	D	0	.	14.707	0.69198	0.0:0.0:1.0:0.0	.	92	A6NCI4	VWA3A_HUMAN	Y	92	ENSP00000374049:D92Y	ENSP00000374049:D92Y	D	+	1	0	VWA3A	22019064	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.260000	0.51523	2.520000	0.84964	0.561000	0.74099	GAC	VWA3A	-	NULL	ENSG00000175267		0.512	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	66	0.00	0	G			22111563	22111563	+1	no_errors	ENST00000389398	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	T
ZBTB37	84614	genome.wustl.edu	37	1	173854992	173854992	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:173854992T>A	ENST00000367701.5	+	4	1433	c.1242T>A	c.(1240-1242)gaT>gaA	p.D414E	ZBTB37_ENST00000427304.1_Missense_Mutation_p.D414E|ZBTB37_ENST00000367704.1_3'UTR			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	414					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)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CCCGGAAAGATCAGCTGGAGT	0.522																																						dbGAP											0													157.0	130.0	138.0					1																	173854992		692	1591	2283	-	-	-	SO:0001583	missense	0			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1242T>A	1.37:g.173854992T>A	ENSP00000356674:p.Asp414Glu		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D414E	ENST00000367701.5	37	c.1242	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534521	0.64972	.	.	ENSG00000185278	ENST00000427304;ENST00000367703;ENST00000367701	T;T	0.60040	0.22;0.22	5.74	0.757	0.18427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.091142	0.85682	D	0.000000	T	0.34832	0.0911	N	0.16833	0.445	0.80722	D	1	D	0.56521	0.976	P	0.56648	0.803	T	0.14868	-1.0457	10	0.33141	T	0.24	.	9.628	0.39763	0.0:0.2637:0.0:0.7363	.	414	Q5TC79	ZBT37_HUMAN	E	414;322;414	ENSP00000415293:D414E;ENSP00000356674:D414E	ENSP00000356674:D414E	D	+	3	2	ZBTB37	172121615	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.004000	0.40854	-0.109000	0.12044	0.528000	0.53228	GAT	ZBTB37	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185278		0.522	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	90	0.00	0	T	NM_032522		173854992	173854992	+1	no_errors	ENST00000367701	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72831358	72831360	+	In_Frame_Del	DEL	TTG	TTG	-	rs568545014|rs375400095|rs372909378	byFrequency	TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr16:72831358_72831360delTTG	ENST00000268489.5	-	9	5893_5895	c.5221_5223delCAA	c.(5221-5223)caadel	p.Q1741del	ZFHX3_ENST00000397992.5_In_Frame_Del_p.Q827del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1741	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCGTTTGTGCttgttgttgttgt	0.527																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5221_5223delCAA	16.37:g.72831367_72831369delTTG	ENSP00000268489:p.Gln1741del		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	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.Q1741in_frame_del	ENST00000268489.5	37	c.5223_5221	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	62	0.00	0	TTG	NM_006885		72831358	72831360	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	in_frame_del	44	10.20	5	DEL	0.993:0.992:0.988	-
ZNF148	7707	genome.wustl.edu	37	3	124951254	124951254	+	Silent	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr3:124951254C>A	ENST00000360647.4	-	9	2801	c.2316G>T	c.(2314-2316)gtG>gtT	p.V772V	ZNF148_ENST00000492394.1_Silent_p.V772V|ZNF148_ENST00000468369.1_Silent_p.V122V|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Silent_p.V772V|ZNF148_ENST00000484491.1_Silent_p.V772V|ZNF148_ENST00000544464.1_Silent_p.V109V|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	772					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CATTTACATTCACCAAGGGAA	0.413																																						dbGAP											0													52.0	55.0	54.0					3																	124951254		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2316G>T	3.37:g.124951254C>A			D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V772	ENST00000360647.4	37	c.2316	CCDS3031.1	3																																																																																			ZNF148	-	NULL	ENSG00000163848		0.413	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	32	0.00	0	C	NM_021964		124951254	124951254	-1	no_errors	ENST00000360647	ensembl	human	known	69_37n	silent	44	15.38	8	SNP	1.000	A
ZNF260	339324	genome.wustl.edu	37	19	37005123	37005123	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:37005123C>A	ENST00000523638.1	-	3	2139	c.1018G>T	c.(1018-1020)Gcc>Tcc	p.A340S	ZNF260_ENST00000593142.1_Missense_Mutation_p.A340S|ZNF260_ENST00000588993.1_Missense_Mutation_p.A340S|ZNF260_ENST00000592282.1_Missense_Mutation_p.A340S	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	340					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGACAGAAGGCTTTCCCACAG	0.403																																						dbGAP											0													115.0	104.0	108.0					19																	37005123		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1018G>T	19.37:g.37005123C>A	ENSP00000429803:p.Ala340Ser		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A340S	ENST00000523638.1	37	c.1018	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125680	0.56721	.	.	ENSG00000254004	ENST00000523638	T	0.13420	2.59	4.27	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05181	0.0138	N	0.02775	-0.495	0.28659	N	0.906251	B	0.25563	0.129	B	0.21151	0.033	T	0.12760	-1.0535	9	0.45353	T	0.12	.	4.9818	0.14170	0.2841:0.6095:0.0:0.1064	.	340	Q3ZCT1	ZN260_HUMAN	S	340	ENSP00000429803:A340S	ENSP00000429803:A340S	A	-	1	0	ZNF260	41696963	0.000000	0.05858	1.000000	0.80357	0.970000	0.65996	-1.060000	0.03475	2.346000	0.79739	0.561000	0.74099	GCC	ZNF260	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000254004		0.403	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	59	0.00	0	C	NM_001012756		37005123	37005123	-1	no_errors	ENST00000523638	ensembl	human	known	69_37n	missense	33	10.53	4	SNP	0.956	A
ZNF330	27309	genome.wustl.edu	37	4	142151393	142151393	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr4:142151393C>A	ENST00000262990.4	+	7	720	c.492C>A	c.(490-492)agC>agA	p.S164R	ZNF330_ENST00000421169.2_Missense_Mutation_p.S104R	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	164						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					ATCAAGCCAGCTGCCAGGTTT	0.303																																						dbGAP											0													92.0	96.0	95.0					4																	142151393		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.492C>A	4.37:g.142151393C>A	ENSP00000262990:p.Ser164Arg		B2RDA3	Missense_Mutation	SNP	pfam_NOA36	p.S164R	ENST00000262990.4	37	c.492	CCDS3754.1	4	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145758	0.77888	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000421169	T;T;T	0.35048	1.33;1.33;1.33	5.81	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.79011	2.435	0.58432	D	0.999999	D;D	0.71674	0.998;0.995	D;P	0.65874	0.939;0.846	T	0.58064	-0.7702	10	0.72032	D	0.01	-0.9665	9.5038	0.39033	0.0:0.7874:0.0:0.2126	.	104;164	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	R	164;164;104	ENSP00000262990:S164R;ENSP00000422599:S164R;ENSP00000397397:S104R	ENSP00000262990:S164R	S	+	3	2	ZNF330	142370843	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.745000	0.38278	0.815000	0.34398	0.462000	0.41574	AGC	ZNF330	-	pfam_NOA36	ENSG00000109445		0.303	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF330	HGNC	protein_coding	OTTHUMT00000257271.2	46	0.00	0	C	NM_014487		142151393	142151393	+1	no_errors	ENST00000262990	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	A
ZNF394	84124	genome.wustl.edu	37	7	99091579	99091579	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr7:99091579C>T	ENST00000337673.6	-	3	1462	c.1259G>A	c.(1258-1260)gGg>gAg	p.G420E	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'Flank	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	420					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAAGCGCTCCCCACATTTCAG	0.498																																					Ovarian(24;589 697 9939 12704 40742)	dbGAP											0													104.0	104.0	104.0					7																	99091579		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1259G>A	7.37:g.99091579C>T	ENSP00000337363:p.Gly420Glu		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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.G420E	ENST00000337673.6	37	c.1259	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576075	0.45902	.	.	ENSG00000160908	ENST00000337673	T	0.20463	2.07	3.54	3.54	0.40534	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000210	T	0.39963	0.1098	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27739	-1.0065	10	0.66056	D	0.02	.	13.4733	0.61292	0.0:1.0:0.0:0.0	.	420	Q53GI3	ZN394_HUMAN	E	420	ENSP00000337363:G420E	ENSP00000337363:G420E	G	-	2	0	ZNF394	98929515	0.217000	0.23597	0.996000	0.52242	0.149000	0.21700	1.384000	0.34396	2.287000	0.76781	0.650000	0.86243	GGG	ZNF394	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160908		0.498	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	116	0.00	0	C	NM_032164		99091579	99091579	-1	no_errors	ENST00000337673	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	1.000	T
ZNF429	353088	genome.wustl.edu	37	19	21720832	21720832	+	Silent	SNP	C	C	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:21720832C>A	ENST00000358491.4	+	4	2185	c.1977C>A	c.(1975-1977)ggC>ggA	p.G659G	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	659					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						ctttgggaggcagaggtgggc	0.448																																						dbGAP											0													27.0	27.0	27.0					19																	21720832		1897	4121	6018	-	-	-	SO:0001819	synonymous_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.1977C>A	19.37:g.21720832C>A			A6NLV7|Q9BZE6	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.G659	ENST00000358491.4	37	c.1977	CCDS42537.1	19																																																																																			ZNF429	-	NULL	ENSG00000197013		0.448	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	38	0.00	0	C	NM_001001415		21720832	21720832	+1	no_errors	ENST00000358491	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	0.565	A
ZNF436	80818	genome.wustl.edu	37	1	23689022	23689022	+	Silent	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr1:23689022G>T	ENST00000314011.4	-	4	989	c.853C>A	c.(853-855)Cga>Aga	p.R285R	ZNF436_ENST00000374608.3_Silent_p.R285R	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTGAAGCCTCGGCCACATTCG	0.512																																						dbGAP											0													118.0	116.0	117.0					1																	23689022		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.853C>A	1.37:g.23689022G>T			Q658I9	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.R285	ENST00000314011.4	37	c.853	CCDS233.1	1																																																																																			ZNF436	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125945		0.512	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	62	0.00	0	G	NM_030634		23689022	23689022	-1	no_errors	ENST00000314011	ensembl	human	known	69_37n	silent	25	13.79	4	SNP	0.921	T
ZNF507	22847	genome.wustl.edu	37	19	32844162	32844162	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr19:32844162delT	ENST00000311921.4	+	2	618	c.426delT	c.(424-426)gatfs	p.D142fs	ZNF507_ENST00000544431.1_Frame_Shift_Del_p.D142fs|ZNF507_ENST00000355898.5_Frame_Shift_Del_p.D142fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	142					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(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGTTAAAAGATCATATTAAGC	0.418																																						dbGAP											0													102.0	90.0	94.0					19																	32844162		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.426delT	19.37:g.32844162delT	ENSP00000312277:p.Asp142fs		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H143fs	ENST00000311921.4	37	c.426	CCDS32985.1	19																																																																																			ZNF507	-	smart_Znf_C2H2-like	ENSG00000168813		0.418	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	66	0.00	0	T	NM_014910		32844162	32844162	+1	no_errors	ENST00000311921	ensembl	human	known	69_37n	frame_shift_del	26	10.34	3	DEL	0.991	-
ZNF595	152687	genome.wustl.edu	37	4	87169	87169	+	3'UTR	SNP	T	T	A			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr4:87169T>A	ENST00000339368.6	+	0	1978							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAGAAACCCTTCACATGTGAA	0.378																																						dbGAP											0													36.0	40.0	39.0					4																	87169		2152	4276	6428	-	-	-	SO:0001624	3_prime_UTR_variant	0			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1975T>A	4.37:g.87169T>A				RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-	ENSG00000197701		0.378	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	63	0.00	0	T	NM_182524		87169	87169	+1	no_errors	ENST00000339368	ensembl	human	known	69_37n	rna	52	10.34	6	SNP	0.051	A
ZSWIM2	151112	genome.wustl.edu	37	2	187703893	187703893	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:187703893G>T	ENST00000295131.2	-	4	326	c.287C>A	c.(286-288)gCt>gAt	p.A96D		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	96					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CAGTTGTAAAGCAGCTAGTGA	0.378																																						dbGAP											0													106.0	107.0	107.0					2																	187703893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.287C>A	2.37:g.187703893G>T	ENSP00000295131:p.Ala96Asp		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.A96D	ENST00000295131.2	37	c.287	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059590	0.76074	.	.	ENSG00000163012	ENST00000295131	T	0.24723	1.84	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000100	T	0.49626	0.1568	M	0.72894	2.215	0.43003	D	0.994522	D	0.76494	0.999	D	0.66084	0.941	T	0.49881	-0.8892	10	0.59425	D	0.04	-13.3832	16.3457	0.83132	0.0:0.0:1.0:0.0	.	96	Q8NEG5	ZSWM2_HUMAN	D	96	ENSP00000295131:A96D	ENSP00000295131:A96D	A	-	2	0	ZSWIM2	187412138	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.583000	0.60964	2.578000	0.87016	0.650000	0.86243	GCT	ZSWIM2	-	NULL	ENSG00000163012		0.378	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	54	0.00	0	G	NM_182521		187703893	187703893	-1	no_errors	ENST00000295131	ensembl	human	known	69_37n	missense	43	14.00	7	SNP	1.000	T
ZSWIM2	151112	genome.wustl.edu	37	2	187703893	187703893	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01A-11D-A21Q-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8f492394-2cdc-408a-aa82-9a4aff52105e	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr2:187703893G>T	ENST00000295131.2	-	4	326	c.287C>A	c.(286-288)gCt>gAt	p.A96D		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	96					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CAGTTGTAAAGCAGCTAGTGA	0.378																																						dbGAP											0													106.0	107.0	107.0					2																	187703893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.287C>A	2.37:g.187703893G>T	ENSP00000295131:p.Ala96Asp		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.A96D	ENST00000295131.2	37	c.287	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059590	0.76074	.	.	ENSG00000163012	ENST00000295131	T	0.24723	1.84	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000100	T	0.49626	0.1568	M	0.72894	2.215	0.43003	D	0.994522	D	0.76494	0.999	D	0.66084	0.941	T	0.49881	-0.8892	10	0.59425	D	0.04	-13.3832	16.3457	0.83132	0.0:0.0:1.0:0.0	.	96	Q8NEG5	ZSWM2_HUMAN	D	96	ENSP00000295131:A96D	ENSP00000295131:A96D	A	-	2	0	ZSWIM2	187412138	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.583000	0.60964	2.578000	0.87016	0.650000	0.86243	GCT	ZSWIM2	-	NULL	ENSG00000163012		0.378	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	54	0.00	0	G	NM_182521		187703893	187703893	-1	no_errors	ENST00000295131	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	1.000	T
ZSWIM3	140831	genome.wustl.edu	37	20	44507232	44507232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A3OD-01B-06D-A22N-09	TCGA-AC-A3OD-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	be2289c3-491b-4571-b79a-6dbee48e172c	ddbd44d8-7387-45dd-8656-923bf3944aae	g.chr20:44507232G>T	ENST00000255152.2	+	2	2244	c.2035G>T	c.(2035-2037)Gga>Tga	p.G679*	ZSWIM1_ENST00000372523.1_5'Flank|ZSWIM1_ENST00000372520.1_5'Flank|ZSWIM3_ENST00000454862.2_Nonsense_Mutation_p.G673*	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	679							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTTCCTCTGGGGAAAGCAAGA	0.537																																						dbGAP											0													76.0	82.0	80.0					20																	44507232		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.2035G>T	20.37:g.44507232G>T	ENSP00000255152:p.Gly679*		Q9BR13	Nonsense_Mutation	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.G679*	ENST00000255152.2	37	c.2035	CCDS13381.1	20	.	.	.	.	.	.	.	.	.	.	G	38	7.270971	0.98179	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	.	.	.	5.27	5.27	0.74061	.	0.233294	0.30695	N	0.009065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.7348	12.8365	0.57775	0.0:0.0:0.8366:0.1634	.	.	.	.	X	679;673	.	ENSP00000255152:G679X	G	+	1	0	ZSWIM3	43940639	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.442000	0.66575	2.746000	0.94184	0.561000	0.74099	GGA	ZSWIM3	-	NULL	ENSG00000132801		0.537	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	44	0.00	0	G	NM_080752		44507232	44507232	+1	no_errors	ENST00000255152	ensembl	human	known	69_37n	nonsense	12	20.00	3	SNP	1.000	T
