#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
USP14	9097	genome.wustl.edu	37	18	211269	211269	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr18:211269G>C	ENST00000261601.7	+	16	1561	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	USP14_ENST00000582707.1_Missense_Mutation_p.E455D|USP14_ENST00000383589.2_Missense_Mutation_p.E444D|USP14_ENST00000400266.3_Missense_Mutation_p.E479D	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	490					negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TAATGGAAGAGGAAAGTGAAC	0.373																																																0			18											93.0	88.0	89.0					18																	211269		2203	4300	6503	201269	SO:0001583	missense	9097			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1470G>C	18.37:g.211269G>C	ENSP00000261601:p.Glu490Asp		201269	J3QRZ5|Q53XY5	Missense_Mutation	SNP	HMMSmart_UBQ,superfamily_SSF54236,PatternScan_UBIQUITIN_1,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.E490D	ENST00000261601.7	37	c.1470	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	G	8.593	0.884970	0.17540	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.32272	1.46;1.46	6.03	-2.52	0.06346	.	0.099945	0.64402	N	0.000003	T	0.13670	0.0331	L	0.27053	0.805	0.41496	D	0.988258	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.11329	0.006;0.002;0.004	T	0.08576	-1.0715	10	0.30078	T	0.28	-12.1839	1.3774	0.02223	0.3329:0.0895:0.3068:0.2708	.	479;455;490	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	D	490;455;479	ENSP00000261601:E490D;ENSP00000383125:E479D	ENSP00000261601:E490D	E	+	3	2	USP14	201269	1.000000	0.71417	0.983000	0.44433	0.927000	0.56198	0.693000	0.25497	-0.365000	0.08076	-0.150000	0.13652	GAG	-	NULL		0.373	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	protein_coding	OTTHUMT00000440305.3	G	NM_005151		201269	+1	no_errors	NM_005151	genbank	human	reviewed	54_36p	missense	SNP	0.998	C
ZNF732	654254	genome.wustl.edu	37	4	265378	265378	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:265378C>G	ENST00000419098.1	-	4	1278	c.1268G>C	c.(1267-1269)tGt>tCt	p.C423S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						GGCTTTGCCACACTCTTCACA	0.413																																																0			4											61.0	54.0	56.0					4																	265378		692	1591	2283	255378	SO:0001583	missense	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1268G>C	4.37:g.265378C>G	ENSP00000415774:p.Cys423Ser		255378		Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.V84L	ENST00000419098.1	37	c.250	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571489	0.28003	.	.	ENSG00000186777	ENST00000419098	D	0.85861	-2.04	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.89952	0.6864	H	0.95224	3.64	0.31235	N	0.695887	P	0.43633	0.813	P	0.46758	0.526	D	0.87579	0.2483	9	0.72032	D	0.01	.	7.3306	0.26580	0.0:1.0:0.0:0.0	.	423	B4DXR9	ZN732_HUMAN	S	423	ENSP00000415774:C423S	ENSP00000415774:C423S	C	-	2	0	ZNF732	255378	1.000000	0.71417	0.455000	0.27031	0.439000	0.31926	5.292000	0.65673	0.399000	0.25367	0.400000	0.26472	TGT	-	superfamily_SSF57667		0.413	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000186777	protein_coding	OTTHUMT00000357937.2	C	NM_001137608		255378	-1	no_stop_codon	ENST00000341087	ensembl	human	known	54_36p	missense	SNP	0.998	G
KRTAP5-6	440023	genome.wustl.edu	37	11	1718689	1718689	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:1718689T>C	ENST00000382160.1	+	1	265	c.214T>C	c.(214-216)Tct>Cct	p.S72P		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	72	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGCTGTGGCTCTTGTGGGGG	0.637																																																0			11											82.0	104.0	97.0					11																	1718689		2202	4299	6501	1675265	SO:0001583	missense	440023			AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.214T>C	11.37:g.1718689T>C	ENSP00000371595:p.Ser72Pro		1675265	A1L452	Missense_Mutation	SNP	PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_VWFC_1	p.S72P	ENST00000382160.1	37	c.214	CCDS31332.1	11	.	.	.	.	.	.	.	.	.	.	t	5.689	0.311740	0.10789	.	.	ENSG00000205864	ENST00000382160	T	0.09630	2.96	4.37	4.37	0.52481	.	.	.	.	.	T	0.21590	0.0520	L	0.56396	1.775	0.23594	N	0.997335	D	0.71674	0.998	D	0.74023	0.982	T	0.05178	-1.0901	9	0.02654	T	1	.	10.0169	0.42020	0.0:0.0:0.0:1.0	.	72	Q6L8G9	KRA56_HUMAN	P	72	ENSP00000371595:S72P	ENSP00000371595:S72P	S	+	1	0	KRTAP5-6	1675265	0.004000	0.15560	1.000000	0.80357	0.293000	0.27360	0.146000	0.16180	1.602000	0.50124	0.487000	0.48397	TCT	-	PatternScan_VWFC_1		0.637	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-6	protein_coding	OTTHUMT00000102339.2	T			1675265	+1	no_errors	NM_001012416	genbank	human	validated	54_36p	missense	SNP	0.994	C
HAUS3	79441	genome.wustl.edu	37	4	2240452	2240452	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:2240452G>T	ENST00000243706.4	-	3	1457	c.1228C>A	c.(1228-1230)Caa>Aaa	p.Q410K	HAUS3_ENST00000506763.1_Missense_Mutation_p.Q410K|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.Q410K	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	410					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTAAGTTCTTGAACCAAATTT	0.308																																																0			4											109.0	108.0	109.0					4																	2240452		2202	4299	6501	2210250	SO:0001583	missense	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1228C>A	4.37:g.2240452G>T	ENSP00000243706:p.Gln410Lys		2210250	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	NULL	p.Q410K	ENST00000243706.4	37	c.1228	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860732	0.32884	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.40225	1.04;1.04	5.87	5.02	0.67125	.	0.390612	0.23732	U	0.045102	T	0.35278	0.0926	L	0.50333	1.59	0.30493	N	0.771205	B;B	0.27679	0.185;0.185	B;B	0.24006	0.05;0.031	T	0.31916	-0.9926	10	0.22706	T	0.39	-26.0904	11.3402	0.49529	0.0:0.1396:0.7193:0.1411	.	410;410	B4DF64;Q68CZ6	.;HAUS3_HUMAN	K	410	ENSP00000243706:Q410K;ENSP00000392903:Q410K	ENSP00000243706:Q410K	Q	-	1	0	HAUS3	2210250	1.000000	0.71417	0.981000	0.43875	0.466000	0.32739	3.059000	0.49947	1.437000	0.47472	0.591000	0.81541	CAA	-	NULL		0.308	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf15	protein_coding	OTTHUMT00000357446.1	G	NM_024511		2210250	-1	no_errors	NM_024511	genbank	human	predicted	54_36p	missense	SNP	0.935	T
NAGPA	51172	genome.wustl.edu	37	16	5078935	5078935	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr16:5078935C>T	ENST00000312251.3	-	5	885	c.866G>A	c.(865-867)gGc>gAc	p.G289D	NAGPA_ENST00000381955.3_Missense_Mutation_p.G289D|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	289					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGTGGCAGAGCCACCCCCATC	0.597																																																0			16											143.0	128.0	133.0					16																	5078935		2197	4300	6497	5018936	SO:0001583	missense	51172			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.866G>A	16.37:g.5078935C>T	ENSP00000310998:p.Gly289Asp		5018936	B2RAS1|Q96EJ8	Missense_Mutation	SNP	HMMPfam_EGF_2,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2	p.G289D	ENST00000312251.3	37	c.866	CCDS10527.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.516159	0.96402	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.50001	0.76;0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.83755	0.0211	10	0.72032	D	0.01	-47.7599	19.5055	0.95113	0.0:1.0:0.0:0.0	.	289;289;289	Q9UK23-3;Q9UK23;Q9UK23-2	.;NAGPA_HUMAN;.	D	289	ENSP00000310998:G289D;ENSP00000371381:G289D	ENSP00000310998:G289D	G	-	2	0	NAGPA	5018936	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.712000	0.84684	2.613000	0.88420	0.561000	0.74099	GGC	-	NULL		0.597	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	protein_coding	OTTHUMT00000207003.1	C	NM_016256		5018936	-1	no_errors	NM_016256	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ACTB	60	genome.wustl.edu	37	7	5568218	5568218	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:5568218A>G	ENST00000331789.5	-	4	687	c.496T>C	c.(496-498)Tac>Cac	p.Y166H	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	166					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TACCCCTCGTAGATGGGCACA	0.622																																																0			7											68.0	68.0	68.0					7																	5568218		2203	4300	6503	5534744	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.496T>C	7.37:g.5568218A>G	ENSP00000349960:p.Tyr166His		5534744	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2	p.Y166H	ENST00000331789.5	37	c.496	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271649	0.59649	.	.	ENSG00000075624	ENST00000331789;ENST00000400179;ENST00000320713	D	0.94457	-3.43	5.13	5.13	0.70059	.	0.119241	0.37012	U	0.002297	D	0.97536	0.9193	M	0.91354	3.2	0.49915	D	0.999839	D	0.54601	0.967	D	0.71184	0.972	D	0.98325	1.0530	10	0.87932	D	0	.	12.9348	0.58307	1.0:0.0:0.0:0.0	.	166	P60709	ACTB_HUMAN	H	166;138;85	ENSP00000349960:Y166H	ENSP00000440549:Y85H	Y	-	1	0	ACTB	5534744	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	8.991000	0.93514	1.941000	0.56285	0.529000	0.55759	TAC	-	HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain		0.622	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	protein_coding	OTTHUMT00000059589.4	A	NM_001101		5534744	-1	no_errors	NM_001101	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:7579377G>A	ENST00000269305.4	-	4	499	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000574684.1_5'Flank	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	104	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; 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.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	TAGCTGCCCTGGTAGGTTTTC	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	34	Substitution - Nonsense(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Complex - compound substitution(1)	lung(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|biliary_tract(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|liver(1)	17											54.0	54.0	54.0					17																	7579377		2203	4300	6503	7520102	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.310C>T	17.37:g.7579377G>A	ENSP00000269305:p.Gln104*		7520102	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	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.Q104*	ENST00000269305.4	37	c.310	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460479	0.63401	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	4.75	0.60458	.	0.378699	0.29424	N	0.012186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	2.2505	11.3383	0.49518	0.0:0.1837:0.8163:0.0	.	.	.	.	X	104	.	ENSP00000269305:Q104X	Q	-	1	0	TP53	7520102	1.000000	0.71417	0.643000	0.29450	0.384000	0.30261	1.618000	0.36954	2.630000	0.89119	0.655000	0.94253	CAG	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7520102	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	nonsense	SNP	0.941	A
SSUH2	51066	genome.wustl.edu	37	3	8669455	8669455	+	Silent	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:8669455G>C	ENST00000317371.4	-	15	1762	c.537C>G	c.(535-537)tcC>tcG	p.S179S	SSUH2_ENST00000415132.1_Silent_p.S179S|SSUH2_ENST00000341795.3_Silent_p.S179S|SSUH2_ENST00000544814.1_Silent_p.S201S			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	179	Cys-rich.					cytoplasm (GO:0005737)											CTCCGCAGCAGGATGGGCACC	0.672																																																0			3											54.0	50.0	51.0					3																	8669455		2203	4300	6503	8644455	SO:0001819	synonymous_variant	51066			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.537C>G	3.37:g.8669455G>C			8644455	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Silent	SNP	NULL	p.S179	ENST00000317371.4	37	c.537	CCDS2568.1	3																																																																																			-	NULL		0.672	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	C3orf32	protein_coding	OTTHUMT00000337900.1	G	NM_015931		8644455	-1	no_errors	NM_015931	genbank	human	predicted	54_36p	silent	SNP	0.065	C
C3P1	388503	genome.wustl.edu	37	19	10160712	10160712	+	RNA	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr19:10160712C>G	ENST00000495140.1	+	0	1383							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CTGTGCAGTGCGTCAAAGCCA	0.577																																																0			19											121.0	129.0	126.0					19																	10160712		2099	4224	6323	10021712			0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160712C>G			10021712		Missense_Mutation	SNP	HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp	p.A113G	ENST00000495140.1	37	c.338		19																																																																																			-	NULL		0.577	C3P1-002	KNOWN	basic	processed_transcript	uc010dwx.1	pseudogene	OTTHUMT00000351284.1	C	NR_027300		10021712	+1	no_errors	ENST00000333905	ensembl	human	known	54_36p	missense	SNP	0.879	G
DGKB	1607	genome.wustl.edu	37	7	14378177	14378177	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:14378177G>A	ENST00000403951.2	-	23	2507	c.2088C>T	c.(2086-2088)acC>acT	p.T696T	DGKB_ENST00000444700.2_Silent_p.T677T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Silent_p.T696T|DGKB_ENST00000399322.3_Silent_p.T696T|DGKB_ENST00000407950.1_Silent_p.T688T|DGKB_ENST00000402815.1_Silent_p.T695T|DGKB_ENST00000406247.3_Silent_p.T696T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	696					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.T696T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CATCTGTGACGGTGGTCCTTT	0.393																																																1	Substitution - coding silent(1)	lung(1)	7											189.0	175.0	179.0					7																	14378177		1850	4087	5937	14344702	SO:0001819	synonymous_variant	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2088C>T	7.37:g.14378177G>A			14344702	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045	p.T696	ENST00000403951.2	37	c.2088	CCDS47547.1	7																																																																																			-	HMMPfam_DAGK_acc,HMMSmart_SM00045		0.393	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	protein_coding	OTTHUMT00000326356.2	G	NM_004080		14344702	-1	no_errors	NM_004080	genbank	human	reviewed	54_36p	silent	SNP	0.794	A
AP1S2	8905	genome.wustl.edu	37	X	15870598	15870598	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chrX:15870598T>A	ENST00000329235.2	-	2	293	c.50A>T	c.(49-51)aAa>aTa	p.K17I	AP1S2_ENST00000421527.2_Missense_Mutation_p.K59I|AP1S2_ENST00000380291.1_Missense_Mutation_p.K17I|AP1S2_ENST00000545766.1_Missense_Mutation_p.K59I	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	17					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					gacataccatttttgcagtcg	0.353																																																0			X											118.0	94.0	102.0					X																	15870598		2203	4300	6503	15780519	SO:0001583	missense	8905			AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"""mental retardation, X-linked 59"", ""mental retardation, X-linked, syndromic 5"", ""Pettigrew X-linked mental retardation syndrome"""	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.50A>T	X.37:g.15870598T>A	ENSP00000328789:p.Lys17Ile		15780519	B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	HMMPfam_Clat_adaptor_s,superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_S	p.K17I	ENST00000329235.2	37	c.50	CCDS14173.1	X	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	25.9|25.9|25.9	4.686864|4.686864|4.686864	0.88639|0.88639|0.88639	.|.|.	.|.|.	ENSG00000182287|ENSG00000182287|ENSG00000182287	ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000452376|ENST00000450644	.|.|.	.|.|.	.|.|.	5.83|5.83|5.83	5.83|5.83|5.83	0.93111|0.93111|0.93111	Longin-like (1);AP complex, mu/sigma subunit (1);|.|.	0.052180|0.052180|.	0.64402|0.64402|.	D|D|.	0.000001|0.000001|.	D|D|D	0.89329|0.89329|0.89329	0.6684|0.6684|0.6684	H|H|H	0.99058|0.99058|0.99058	4.415|4.415|4.415	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D|.|.	0.89917|.|.	1.0;0.978;0.999;0.999;0.999;1.0|.|.	D;D;D;D;D;D|.|.	0.91635|.|.	0.999;0.998;0.999;0.999;0.999;0.999|.|.	D|D|D	0.93495|0.93495|0.93495	0.6839|0.6839|0.6839	9|6|5	0.87932|.|.	D|.|.	0|.|.	-9.1298|-9.1298|-9.1298	15.1785|15.1785|15.1785	0.72934|0.72934|0.72934	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	17;59;59;17;17;14|.|.	B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.|.	.;.;.;.;AP1S2_HUMAN;.|.|.	I|N|Y	17;17;59;59;14|13|10	.|.|.	ENSP00000328789:K17I|.|.	K|K|N	-|-|-	2|3|1	0|2|0	AP1S2|AP1S2|AP1S2	15780519|15780519|15780519	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.923000|0.923000|0.923000	0.55619|0.55619|0.55619	7.650000|7.650000|7.650000	0.83521|0.83521|0.83521	1.968000|1.968000|1.968000	0.57251|0.57251|0.57251	0.486000|0.486000|0.486000	0.48141|0.48141|0.48141	AAA|AAA|AAT	-	HMMPfam_Clat_adaptor_s,superfamily_SNARE-like		0.353	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1S2	protein_coding	OTTHUMT00000055893.1	T	NM_003916		15780519	-1	no_errors	NM_003916	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	13	19412806	19412806	+	IGR	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr13:19412806C>T								LINC00418 (118937 upstream) : RP11-38M15.11 (21160 downstream)																							ATTTTAATGTCCTTAAGATAT	0.313																																																0			13																																								18310806	SO:0001628	intergenic_variant	284232																															13.37:g.19412806C>T			18310806		RNA	SNP	-	NULL		37	NULL		13																																																																																			-	-	0	0.313					LOC284232			C			18310806	-1	pseudogene	XR_037095	genbank	human	model	54_36p	rna	SNP	0.977	T
KLHDC7A	127707	genome.wustl.edu	37	1	18809765	18809765	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:18809765G>A	ENST00000400664.1	+	1	2342	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	764						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGTCCTGACCTT	0.652																																																0			1											63.0	68.0	67.0					1																	18809765		2202	4299	6501	18682352	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2290G>A	1.37:g.18809765G>A	ENSP00000383505:p.Val764Ile		18682352	Q8N8W6	Missense_Mutation	SNP	superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch	p.V764I	ENST00000400664.1	37	c.2290	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235566	0.22626	.	.	ENSG00000179023	ENST00000400664	T	0.16457	2.34	5.32	4.4	0.53042	.	0.000000	0.64402	D	0.000002	T	0.23846	0.0577	L	0.58969	1.84	0.36171	D	0.848791	D	0.69078	0.997	P	0.47402	0.546	T	0.30851	-0.9964	10	0.66056	D	0.02	.	12.5737	0.56352	0.0816:0.0:0.9184:0.0	.	764	Q5VTJ3	KLD7A_HUMAN	I	764	ENSP00000383505:V764I	ENSP00000383505:V764I	V	+	1	0	KLHDC7A	18682352	0.988000	0.35896	0.423000	0.26634	0.035000	0.12851	1.956000	0.40382	1.209000	0.43321	0.655000	0.94253	GTC	-	NULL		0.652	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	protein_coding	OTTHUMT00000006923.3	G	NM_152375		18682352	+1	no_errors	NM_152375	genbank	human	validated	54_36p	missense	SNP	0.973	A
OR4N2	390429	genome.wustl.edu	37	14	20296008	20296008	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:20296008C>A	ENST00000315947.1	+	1	401	c.401C>A	c.(400-402)aCt>aAt	p.T134N	OR4N2_ENST00000568211.1_Missense_Mutation_p.T134N	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTATCCTACTGTCATGAAC	0.527																																																0			14											208.0	221.0	217.0					14																	20296008		2203	4300	6503	19365848	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.401C>A	14.37:g.20296008C>A	ENSP00000319601:p.Thr134Asn		19365848	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T134N	ENST00000315947.1	37	c.401	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	7.980	0.750954	0.15778	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00902	5.56;5.56	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.261790	0.27354	N	0.019742	T	0.02083	0.0065	M	0.83852	2.665	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.19679	-1.0298	10	0.59425	D	0.04	-6.8327	10.2052	0.43109	0.1985:0.8015:0.0:0.0	.	134	Q8NGD1	OR4N2_HUMAN	N	134	ENSP00000452022:T134N;ENSP00000319601:T134N	ENSP00000319601:T134N	T	+	2	0	OR4N2	19365848	0.000000	0.05858	0.334000	0.25495	0.462000	0.32619	-0.237000	0.08990	2.488000	0.83962	0.591000	0.81541	ACT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	protein_coding	OTTHUMT00000409821.2	C			19365848	+1	no_errors	NM_001004723	genbank	human	provisional	54_36p	missense	SNP	0.168	A
AKR7L	246181	genome.wustl.edu	37	1	19600386	19600386	+	RNA	SNP	C	C	T	rs112053480	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:19600386C>T	ENST00000429712.1	-	0	302				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TTCGGAGCCCCAGGCCGCCAA	0.682													C|||	536	0.107029	0.2859	0.0764	5008	,	,		15326	0.0		0.0944	False		,,,				2504	0.0102															0			1						C		353,1027		53,247,390	34.0	40.0	38.0			3.2	1.0	1	dbSNP_132	38	305,2877		25,255,1311	no	intergenic				78,502,1701	TT,TC,CC		9.5852,25.5797,14.4235			19600386	658,3904	690	1591	2281	19472973			246181					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19600386C>T			19472973	Q5U614	Silent	SNP	superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red	p.L61	ENST00000429712.1	37	c.183		1	237	0.10851648351648352	134	0.27235772357723576	31	0.0856353591160221	0	0.0	72	0.09498680738786279	C	1.618	-0.522172	0.04171	0.255797	0.095852	ENSG00000211454	ENST00000457194	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3012	0.60326	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	.	W	-	2	0	AKR7L	19472973	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.448000	0.60027	1.772000	0.52199	0.195000	0.17529	TGG	-	superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red		0.682	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	AKR7L	polymorphic_pseudogene	OTTHUMT00000007163.3	C	NM_201252		19472973	-1	pseudogene	ENST00000388886	ensembl	human	known	54_36p	silent	SNP	1.000	T
DCAF11	80344	genome.wustl.edu	37	14	24592240	24592240	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:24592240G>C	ENST00000446197.3	+	14	2187	c.1460G>C	c.(1459-1461)cGt>cCt	p.R487P	DCAF11_ENST00000396936.1_Missense_Mutation_p.R387P|DCAF11_ENST00000559115.1_Missense_Mutation_p.R487P|RP11-468E2.6_ENST00000558325.1_Silent_p.A76A|DCAF11_ENST00000396941.4_Missense_Mutation_p.R461P	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	487					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GCCTGTGTGCGTGACGTCAGT	0.552																																																0			14											167.0	134.0	145.0					14																	24592240		2203	4300	6503	23662080	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1460G>C	14.37:g.24592240G>C	ENSP00000415556:p.Arg487Pro		23662080	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.R487P	ENST00000446197.3	37	c.1460	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	g	22.1	4.245655	0.80024	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.62364	0.03;0.03	5.33	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047500	0.85682	D	0.000000	T	0.81273	0.4788	M	0.90542	3.125	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.83076	-0.0140	10	0.39692	T	0.17	-16.0732	13.1265	0.59358	0.0:0.0:0.8388:0.1612	.	410;461;387;487;487	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	P	487;461;387;461	ENSP00000380142:R387P;ENSP00000380146:R461P	ENSP00000323680:R487P	R	+	2	0	DCAF11	23662080	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.467000	0.90390	1.454000	0.47793	0.655000	0.94253	CGT	-	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40		0.552	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR23	protein_coding	OTTHUMT00000071907.4	G			23662080	+1	no_errors	NM_025230	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
EXTL3	2137	genome.wustl.edu	37	8	28574102	28574102	+	Missense_Mutation	SNP	G	G	A	rs538938900		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:28574102G>A	ENST00000220562.4	+	3	1428	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	176					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGCCACTCGGGGCTGCCGGCT	0.597																																																0			8											66.0	70.0	69.0					8																	28574102		2203	4300	6503	28630021	SO:0001583	missense	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.526G>A	8.37:g.28574102G>A	ENSP00000220562:p.Gly176Ser		28630021	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	HMMPfam_Exostosin,superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_64	p.G176S	ENST00000220562.4	37	c.526	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813915	0.02798	.	.	ENSG00000012232	ENST00000220562	D	0.94650	-3.48	5.02	0.551	0.17225	.	0.437284	0.25397	N	0.030961	T	0.76528	0.4000	N	0.00729	-1.24	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.70114	-0.4961	9	.	.	.	-3.522	6.9271	0.24422	0.6371:0.0:0.3629:0.0	.	176	O43909	EXTL3_HUMAN	S	176	ENSP00000220562:G176S	.	G	+	1	0	EXTL3	28630021	1.000000	0.71417	0.545000	0.28153	0.890000	0.51754	2.195000	0.42677	0.181000	0.19994	0.485000	0.47835	GGC	-	NULL		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	protein_coding	OTTHUMT00000219987.3	G	NM_001440		28630021	+1	no_errors	NM_001440	genbank	human	provisional	54_36p	missense	SNP	0.708	A
RBMS3	27303	genome.wustl.edu	37	3	29476392	29476392	+	Silent	SNP	C	C	A	rs369133683		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:29476392C>A	ENST00000383767.2	+	2	570	c.234C>A	c.(232-234)atC>atA	p.I78I	RBMS3_ENST00000383766.2_Silent_p.I77I|RBMS3_ENST00000445033.1_Silent_p.I78I|RBMS3_ENST00000452462.1_Silent_p.I78I|RBMS3_ENST00000273139.9_Silent_p.I78I|RBMS3_ENST00000456853.1_Silent_p.I78I|RBMS3_ENST00000396583.3_Silent_p.I78I|RBMS3_ENST00000434693.2_Silent_p.I77I			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	78	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				AGGACCTAATCAAGCTGTGCC	0.522																																																0			3											222.0	170.0	187.0					3																	29476392		2203	4300	6503	29451396	SO:0001819	synonymous_variant	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.234C>A	3.37:g.29476392C>A			29451396	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.I78	ENST00000383767.2	37	c.234	CCDS33724.1	3																																																																																			-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1		0.522	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	protein_coding	OTTHUMT00000341306.1	C	NM_001003792		29451396	+1	no_errors	NM_001003793	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
TRIM31	11074	genome.wustl.edu	37	6	30071439	30071439	+	Silent	SNP	A	A	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:30071439A>G	ENST00000376734.3	-	9	1277	c.1152T>C	c.(1150-1152)tcT>tcC	p.S384S	TRIM31_ENST00000540829.1_Silent_p.S384S|TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	384					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CTCCTTGACCAGAAATCTCAT	0.552																																																0			6											109.0	115.0	113.0					6																	30071439		1510	2708	4218	30179418	SO:0001819	synonymous_variant	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1152T>C	6.37:g.30071439A>G			30179418	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Silent	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336	p.S384	ENST00000376734.3	37	c.1152	CCDS34374.1	6																																																																																			-	NULL		0.552	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31	protein_coding	OTTHUMT00000076081.2	A			30179418	-1	no_errors	NM_007028	genbank	human	reviewed	54_36p	silent	SNP	0.007	G
HLA-E	3133	genome.wustl.edu	37	6	30458953	30458953	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:30458953A>C	ENST00000376630.4	+	4	715	c.650A>C	c.(649-651)gAc>gCc	p.D217A		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	217	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CCCATCTCTGACCATGAGGCC	0.592																																																0			6											124.0	144.0	137.0					6																	30458953		1511	2709	4220	30566932	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.650A>C	6.37:g.30458953A>C	ENSP00000365817:p.Asp217Ala		30566932	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,HMMPfam_C1-set,superfamily_SSF48726,HMMSmart_IGc1,PatternScan_IG_MHC	p.D217A	ENST00000376630.4	37	c.650	CCDS34379.1	6	.	.	.	.	.	.	.	.	.	.	.	10.29	1.309827	0.23821	.	.	ENSG00000204592	ENST00000376630	T	0.14516	2.5	1.67	1.67	0.24075	.	0.151769	0.29522	U	0.011918	T	0.05181	0.0138	M	0.75447	2.3	0.09310	N	1	P;P	0.40553	0.721;0.475	B;B	0.31812	0.136;0.082	T	0.20338	-1.0278	10	0.87932	D	0	.	5.384	0.16208	1.0:0.0:0.0:0.0	.	258;217	E7ENN9;Q6DU44	.;.	A	217	ENSP00000365817:D217A	ENSP00000365817:D217A	D	+	2	0	HLA-E	30566932	0.000000	0.05858	0.038000	0.18304	0.068000	0.16541	0.402000	0.20965	1.016000	0.39470	0.379000	0.24179	GAC	-	HMMPfam_C1-set,superfamily_SSF48726		0.592	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-E	protein_coding	OTTHUMT00000076282.2	A	NM_005516		30566932	+1	no_errors	NM_005516	genbank	human	reviewed	54_36p	missense	SNP	0.006	C
AHSP	51327	genome.wustl.edu	37	16	31540011	31540011	+	Nonstop_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr16:31540011A>T	ENST00000302312.4	+	3	411	c.308A>T	c.(307-309)tAg>tTg	p.*103L	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	0					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						CCCTCCTCCTAGCTCAGGGAC	0.572																																																0			16											27.0	25.0	26.0					16																	31540011		2197	4300	6497	31447512	SO:0001578	stop_lost	51327			AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"""alpha hemoglobin stabilising protein"""	605821	"""erythroid associated factor"""	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.308A>T	16.37:g.31540011A>T	ENSP00000307199:p.*103Leuext*9		31447512	Q8TD01	Nonstop_Mutation	SNP	superfamily_Alpha-hemoglobin stabilizing protein AHSP,HMMPfam_AHSP	p.*103L	ENST00000302312.4	37	c.308	CCDS10716.1	16	.	.	.	.	.	.	.	.	.	.	A	9.495	1.101643	0.20632	.	.	ENSG00000169877	ENST00000302312	.	.	.	4.98	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6319	0.12506	0.6224:0.1882:0.1893:0.0	.	.	.	.	L	103	.	.	X	+	2	0	AHSP	31447512	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.192000	0.17096	0.315000	0.23110	0.533000	0.62120	TAG	-	NULL		0.572	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAF	protein_coding	OTTHUMT00000255624.1	A	NM_016633		31447512	+1	no_errors	NM_016633	genbank	human	validated	54_36p	nonstop	SNP	0.003	T
SUB1	10923	genome.wustl.edu	37	5	32588629	32588629	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:32588629C>T	ENST00000265073.4	+	2	139	c.11C>T	c.(10-12)tCa>tTa	p.S4L	SUB1_ENST00000512913.1_Missense_Mutation_p.S4L|SUB1_ENST00000504789.1_Intron|SUB1_ENST00000515355.1_Missense_Mutation_p.S4L|SUB1_ENST00000502897.1_Missense_Mutation_p.S4L	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	4	Regulatory.|Ser-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|single-stranded DNA binding (GO:0003697)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATGCCTAAATCAAAGGAACTT	0.363																																																0			5											77.0	75.0	76.0					5																	32588629		2203	4300	6503	32624386	SO:0001583	missense	10923			X79805	CCDS3897.1	5p13.3	2008-02-05			ENSG00000113387	ENSG00000113387			19985	protein-coding gene	gene with protein product		600503				8062392, 8062391	Standard	NM_006713		Approved	PC4, p15, p14	uc003jhs.2	P53999	OTTHUMG00000131071	ENST00000265073.4:c.11C>T	5.37:g.32588629C>T	ENSP00000265073:p.Ser4Leu		32624386	Q96L29	Missense_Mutation	SNP	HMMPfam_PC4,superfamily_ssDNA-binding transcriptional regulator domain	p.S4L	ENST00000265073.4	37	c.11	CCDS3897.1	5	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136182	0.77662	.	.	ENSG00000113387	ENST00000506237;ENST00000512913;ENST00000265073;ENST00000542111;ENST00000515355;ENST00000502897;ENST00000510442	T;T;T;T;T;T	0.56275	0.85;0.85;0.85;0.85;0.85;0.47	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	M	0.72479	2.2	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.71761	-0.4495	10	0.59425	D	0.04	.	19.5294	0.95222	0.0:1.0:0.0:0.0	.	4	P53999	TCP4_HUMAN	L	4	ENSP00000422078:S4L;ENSP00000422806:S4L;ENSP00000265073:S4L;ENSP00000426850:S4L;ENSP00000427100:S4L;ENSP00000423893:S4L	ENSP00000265073:S4L	S	+	2	0	SUB1	32624386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.379000	0.66196	2.712000	0.92718	0.650000	0.86243	TCA	-	NULL		0.363	SUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUB1	protein_coding	OTTHUMT00000253730.1	C	NM_006713		32624386	+1	no_errors	NM_006713	genbank	human	validated	54_36p	missense	SNP	1.000	T
TTC23L	153657	genome.wustl.edu	37	5	34867029	34867029	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:34867029C>T	ENST00000505624.1	+	7	798	c.695C>T	c.(694-696)gCt>gTt	p.A232V	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	232										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						CTGAACCTAGCTCTGGCATAC	0.473																																																0			5											51.0	49.0	50.0					5																	34867029		1930	4148	6078	34902786	SO:0001583	missense	153657				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.695C>T	5.37:g.34867029C>T	ENSP00000422188:p.Ala232Val		34902786	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	superfamily_TPR-like	p.A232V	ENST00000505624.1	37	c.695	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535710	0.64972	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	D	0.90620	-2.7	5.14	5.14	0.70334	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.93874	0.8040	M	0.72894	2.215	0.36698	D	0.879979	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.71656	0.974;0.942;0.935	D	0.95247	0.8356	10	0.87932	D	0	-17.8808	11.0112	0.47663	0.0:0.9143:0.0:0.0857	.	232;163;232	Q6PF05-2;B4DEX1;Q6PF05	.;.;TT23L_HUMAN	V	232	ENSP00000422188:A232V	ENSP00000425242:A232V	A	+	2	0	TTC23L	34902786	0.720000	0.27996	0.828000	0.32881	0.444000	0.32077	1.801000	0.38843	2.671000	0.90904	0.563000	0.77884	GCT	-	superfamily_TPR-like		0.473	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	protein_coding	OTTHUMT00000366819.1	C	NM_144725		34902786	+1	no_errors	NM_144725	genbank	human	validated	54_36p	missense	SNP	0.708	T
ZNF76	7629	genome.wustl.edu	37	6	35255571	35255571	+	Silent	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:35255571T>C	ENST00000373953.3	+	5	647	c.381T>C	c.(379-381)gaT>gaC	p.D127D	ZNF76_ENST00000339411.5_Silent_p.D127D|ZNF76_ENST00000440666.2_Silent_p.D101D	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	127					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGAGGATGATGAGGGCTTCA	0.612																																					Esophageal Squamous(52;92 1039 20612 23956 34676)											0			6											101.0	90.0	94.0					6																	35255571		2203	4300	6503	35363549	SO:0001819	synonymous_variant	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.381T>C	6.37:g.35255571T>C			35363549	Q9BQB2	Silent	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.D127	ENST00000373953.3	37	c.381	CCDS4801.1	6																																																																																			-	NULL		0.612	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	protein_coding	OTTHUMT00000040279.2	T	NM_003427		35363549	+1	no_errors	NM_003427	genbank	human	provisional	54_36p	silent	SNP	0.125	C
NIPBL	25836	genome.wustl.edu	37	5	37000975	37000975	+	Nonsense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:37000975A>T	ENST00000282516.8	+	13	4058	c.3559A>T	c.(3559-3561)Aaa>Taa	p.K1187*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.K1187*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1187					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATATGAACCAAAACTAACACC	0.303																																																0			5											80.0	80.0	80.0					5																	37000975		2201	4297	6498	37036732	SO:0001587	stop_gained	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3559A>T	5.37:g.37000975A>T	ENSP00000282516:p.Lys1187*		37036732	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	superfamily_ARM repeat	p.K1187*	ENST00000282516.8	37	c.3559	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	46	12.247080	0.99650	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0099	0.80396	1.0:0.0:0.0:0.0	.	.	.	.	X	1187	.	ENSP00000282516:K1187X	K	+	1	0	NIPBL	37036732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.131000	0.77243	2.252000	0.74401	0.528000	0.53228	AAA	-	superfamily_ARM repeat		0.303	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	A	NM_015384		37036732	+1	no_errors	NM_133433	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
SCN11A	11280	genome.wustl.edu	37	3	38950673	38950673	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:38950673T>G	ENST00000302328.3	-	9	1312	c.1114A>C	c.(1114-1116)Act>Cct	p.T372P	SCN11A_ENST00000450244.1_Missense_Mutation_p.T372P|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000444237.2_Missense_Mutation_p.T372P|SCN11A_ENST00000456224.3_Missense_Mutation_p.T372P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	372					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAGAGCCCAGTAGTACGCAGG	0.458																																																0			3											124.0	121.0	122.0					3																	38950673		2203	4300	6503	38925677	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1114A>C	3.37:g.38950673T>G	ENSP00000307599:p.Thr372Pro		38925677	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc	p.T372P	ENST00000302328.3	37	c.1114	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	T	14.67	2.605313	0.46423	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.2	-9.9	0.00461	Ion transport (1);	0.543707	0.20504	N	0.091030	D	0.92270	0.7548	L	0.47190	1.495	0.09310	N	0.999997	B	0.21381	0.055	B	0.29440	0.102	T	0.79349	-0.1840	10	0.59425	D	0.04	.	7.5788	0.27952	0.5341:0.1899:0.0:0.276	.	372	Q9UI33	SCNBA_HUMAN	P	372	ENSP00000307599:T372P;ENSP00000400945:T372P;ENSP00000416757:T372P;ENSP00000408028:T372P	ENSP00000307599:T372P	T	-	1	0	SCN11A	38925677	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-1.545000	0.02190	-1.636000	0.01533	-1.522000	0.00932	ACT	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.458	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	T	NM_014139		38925677	-1	no_errors	NM_014139	genbank	human	validated	54_36p	missense	SNP	0.009	G
IDO1	3620	genome.wustl.edu	37	8	39775480	39775480	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:39775480A>T	ENST00000518237.1	+	2	813	c.174A>T	c.(172-174)agA>agT	p.R58S	RP11-44K6.2_ENST00000520185.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R58S|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	58					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TTCGAGAAAGAGTTGAGAAGG	0.323																																																0			8											85.0	81.0	82.0					8																	39775480		1864	4102	5966	39894637	SO:0001583	missense	3620			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.174A>T	8.37:g.39775480A>T	ENSP00000430950:p.Arg58Ser		39894637	Q540B4	Missense_Mutation	SNP	HMMPfam_IDO,PatternScan_IDO_1,PatternScan_IDO_2	p.R58S	ENST00000518237.1	37	c.174	CCDS47847.1	8	.	.	.	.	.	.	.	.	.	.	A	3.697	-0.062243	0.07317	.	.	ENSG00000131203	ENST00000518804;ENST00000519154;ENST00000522495;ENST00000518237	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.62	3.16	0.36331	.	1.097150	0.06833	N	0.794239	T	0.27063	0.0663	N	0.22421	0.69	0.27753	N	0.944091	B	0.26195	0.144	B	0.21151	0.033	T	0.28332	-1.0047	9	.	.	.	-2.4667	4.6881	0.12767	0.7436:0.0:0.0893:0.1671	.	58	P14902	I23O1_HUMAN	S	58	ENSP00000429297:R58S;ENSP00000428716:R58S;ENSP00000430505:R58S;ENSP00000430950:R58S	.	R	+	3	2	IDO1	39894637	0.998000	0.40836	0.609000	0.28983	0.230000	0.25150	3.498000	0.53302	0.378000	0.24764	0.455000	0.32223	AGA	-	HMMPfam_IDO		0.323	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	protein_coding	OTTHUMT00000376987.1	A	NM_002164		39894637	+1	no_errors	NM_002164	genbank	human	validated	54_36p	missense	SNP	0.430	T
EFTUD2	9343	genome.wustl.edu	37	17	42956968	42956968	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:42956968G>A	ENST00000426333.2	-	9	955	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	EFTUD2_ENST00000591382.1_Missense_Mutation_p.R220C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R210C|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R185C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	220	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCTGAGATGCGCAAGCCAGCT	0.478																																					Ovarian(10;65 485 10258 29980 30707)											0			17											109.0	95.0	99.0					17																	42956968		2203	4300	6503	40312494	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.658C>T	17.37:g.42956968G>A	ENSP00000392094:p.Arg220Cys		40312494	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	PatternScan_EFACTOR_GTP,superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C	p.R220C	ENST00000426333.2	37	c.658	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528110	0.85706	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.80304	-1.36;-1.36	6.02	6.02	0.97574	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.94360	0.7587	10	0.87932	D	0	-6.9932	20.5373	0.99239	0.0:0.0:1.0:0.0	.	210;220	B4DMC0;Q15029	.;U5S1_HUMAN	C	220;210;185	ENSP00000392094:R220C;ENSP00000385873:R185C	ENSP00000262414:R210C	R	-	1	0	EFTUD2	40312494	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.150000	0.58098	2.857000	0.98124	0.650000	0.86243	CGC	-	superfamily_SSF52540,HMMPfam_GTP_EFTU		0.478	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	protein_coding	OTTHUMT00000448672.1	G	NM_004247		40312494	-1	no_errors	NM_004247	genbank	human	validated	54_36p	missense	SNP	1.000	A
LRFN2	57497	genome.wustl.edu	37	6	40400011	40400011	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:40400011T>A	ENST00000338305.6	-	2	1384	c.842A>T	c.(841-843)gAg>gTg	p.E281V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	281	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAACTCCTCCTCACGCACATG	0.617																																																0			6											45.0	47.0	46.0					6																	40400011		2203	4300	6503	40507989	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.842A>T	6.37:g.40400011T>A	ENSP00000345985:p.Glu281Val		40507989	A5PKU3|Q5SYP9	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III	p.E281V	ENST00000338305.6	37	c.842	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912332	0.72983	.	.	ENSG00000156564	ENST00000338305	T	0.02421	4.3	5.57	5.57	0.84162	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00998	-1.1486	10	0.72032	D	0.01	.	14.5482	0.68047	0.0:0.0:0.0:1.0	.	281	Q9ULH4	LRFN2_HUMAN	V	281	ENSP00000345985:E281V	ENSP00000345985:E281V	E	-	2	0	LRFN2	40507989	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	6.301000	0.72782	2.123000	0.65237	0.460000	0.39030	GAG	-	superfamily_L domain-like,HMMSmart_SM00082,superfamily_Immunoglobulin		0.617	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	protein_coding	OTTHUMT00000040488.1	T	XM_166372		40507989	-1	no_errors	NM_020737	genbank	human	provisional	54_36p	missense	SNP	1.000	A
GLI3	2737	genome.wustl.edu	37	7	42152937	42152937	+	Intron	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:42152937C>A	ENST00000395925.3	-	3	452				GLI3_ENST00000479210.1_Intron	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3						anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGCCCAGCACCTACGTCCCGT	0.557									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							0			7																																								42119462	SO:0001627	intron_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.367+34887G>T	7.37:g.42152937C>A			42119462	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	RNA	SNP	-	NULL	ENST00000395925.3	37	NULL	CCDS5465.1	7																																																																																			-	-		0.557	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100131183	protein_coding	OTTHUMT00000250806.3	C	NM_000168		42119462	+1	pseudogene	XR_039424	genbank	human	model	54_36p	rna	SNP	0.014	A
ZNF573	126231	genome.wustl.edu	37	19	38230576	38230576	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr19:38230576T>G	ENST00000590414.2	-	4	836	c.815A>C	c.(814-816)aAa>aCa	p.K272T	ZNF573_ENST00000392138.1_Missense_Mutation_p.K185T|ZNF573_ENST00000339503.4_Missense_Mutation_p.K214T|ZNF573_ENST00000357309.3_Missense_Mutation_p.K184T|ZNF573_ENST00000536220.1_Missense_Mutation_p.K184T			Q86YE8	ZN573_HUMAN	zinc finger protein 573	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTATATGGTTTTTCGCCAGT	0.428																																																0			19											109.0	106.0	107.0					19																	38230576		2203	4300	6503	42922416	SO:0001583	missense	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.815A>C	19.37:g.38230576T>G	ENSP00000465020:p.Lys272Thr		42922416	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.K214T	ENST00000590414.2	37	c.641	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714493	0.48622	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.33	2.33	0.28932	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48537	0.1505	M	0.81614	2.55	0.22982	N	0.998474	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;D	0.68353	0.954;0.928;0.957;0.928	T	0.24548	-1.0157	9	0.87932	D	0	.	9.0479	0.36358	0.0:0.0:0.0:1.0	.	185;214;252;184	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	T	185;184;184;214;184	ENSP00000375983:K185T;ENSP00000440464:K184T;ENSP00000349861:K184T;ENSP00000340171:K214T	ENSP00000340171:K214T	K	-	2	0	ZNF573	42922416	0.000000	0.05858	0.996000	0.52242	0.928000	0.56348	-0.139000	0.10358	0.935000	0.37341	0.477000	0.44152	AAA	-	superfamily_SSF57667		0.428	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	protein_coding	OTTHUMT00000459773.2	T	NM_152360		42922416	-1	no_errors	NM_152360	genbank	human	provisional	54_36p	missense	SNP	0.948	G
WFDC12	128488	genome.wustl.edu	37	20	43752884	43752884	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr20:43752884G>A	ENST00000372785.3	-	2	119	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	34	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				defense response to bacterium (GO:0042742)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				TGTCAGCTGGGCAAACCCCTG	0.582																																																0			20											103.0	88.0	93.0					20																	43752884		2203	4300	6503	43186298	SO:0001819	synonymous_variant	128488			Z93016	CCDS13343.1	20q13.12	2013-01-21	2003-02-21	2003-02-21	ENSG00000168703	ENSG00000168703		"""WAP four-disulfide core domain containing"""	16115	protein-coding gene	gene with protein product		609872	"""chromosome 20 open reading frame 122"""	C20orf122		11779191, 12206714	Standard	NM_080869		Approved	dJ211D12.4, WAP2	uc002xnf.1	Q8WWY7	OTTHUMG00000046412	ENST00000372785.3:c.102C>T	20.37:g.43752884G>A			43186298	Q5H980|Q9BR31	Silent	SNP	superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE	p.C34	ENST00000372785.3	37	c.102	CCDS13343.1	20																																																																																			-	superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP		0.582	WFDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC12	protein_coding	OTTHUMT00000107194.1	G			43186298	-1	no_errors	NM_080869	genbank	human	reviewed	54_36p	silent	SNP	0.024	A
B4GALNT2	124872	genome.wustl.edu	37	17	47246244	47246244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:47246244C>T	ENST00000300404.2	+	10	1536	c.1477C>T	c.(1477-1479)Caa>Taa	p.Q493*	B4GALNT2_ENST00000393354.2_Nonsense_Mutation_p.Q433*|B4GALNT2_ENST00000504681.1_Nonsense_Mutation_p.Q407*	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	493					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCCCCGCCTGCAACGAGTGGC	0.592																																					GBM(124;244 1635 8663 18097 33175)											0			17											39.0	33.0	35.0					17																	47246244		2203	4300	6503	44601243	SO:0001587	stop_gained	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1477C>T	17.37:g.47246244C>T	ENSP00000300404:p.Gln493*		44601243	B4DZE4|Q14CP1|Q86Y40	Nonsense_Mutation	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2	p.Q493*	ENST00000300404.2	37	c.1477	CCDS11544.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.495796	0.96355	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	.	.	.	5.28	3.15	0.36227	.	0.236748	0.32055	N	0.006653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.295	12.9794	0.58555	0.315:0.685:0.0:0.0	.	.	.	.	X	407;433;493	.	ENSP00000300404:Q493X	Q	+	1	0	B4GALNT2	44601243	0.003000	0.15002	0.920000	0.36463	0.995000	0.86356	0.404000	0.20999	1.138000	0.42230	0.561000	0.74099	CAA	-	NULL		0.592	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	protein_coding	OTTHUMT00000364477.1	C	NM_153446		44601243	+1	no_errors	NM_153446	genbank	human	provisional	54_36p	nonsense	SNP	0.125	T
CORIN	10699	genome.wustl.edu	37	4	47708395	47708395	+	Intron	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:47708395G>T	ENST00000273857.4	-	6	799				CORIN_ENST00000505909.1_Intron|CORIN_ENST00000508498.1_Intron|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase						female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAAGATGGGTGCATACAAGTA	0.493																																																0			4																																								47403152	SO:0001627	intron_variant	728576			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.800-13295C>A	4.37:g.47708395G>T			47403152	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	RNA	SNP	-	NULL	ENST00000273857.4	37	NULL	CCDS3477.1	4																																																																																			-	-		0.493	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728576	protein_coding	OTTHUMT00000216906.2	G			47403152	+1	pseudogene	XR_015608	genbank	human	model	54_36p	rna	SNP	1.000	T
MSH2	4436	genome.wustl.edu	37	2	47710033	47710033	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:47710033C>T	ENST00000233146.2	+	16	2973	c.2750C>T	c.(2749-2751)gCa>gTa	p.A917V	MSH2_ENST00000461394.1_Intron|MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Missense_Mutation_p.A851V	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	917					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGTAATAGCAAAGAATAAT	0.318			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	2											43.0	42.0	42.0					2																	47710033		2202	4290	6492	47563537	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2750C>T	2.37:g.47710033C>T	ENSP00000233146:p.Ala917Val		47563537	B4E2Z2|O75488	Missense_Mutation	SNP	HMMPfam_MutS_I,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2	p.A917V	ENST00000233146.2	37	c.2750	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655580	0.47467	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000413880	D;D	0.91792	-2.91;-2.77	5.4	3.61	0.41365	.	0.317239	0.37955	N	0.001865	D	0.89259	0.6664	L	0.50333	1.59	0.45747	D	0.998643	B;B	0.33964	0.434;0.306	B;B	0.36289	0.108;0.221	D	0.86288	0.1672	10	0.51188	T	0.08	-16.8406	11.8513	0.52413	0.0:0.8578:0.0:0.1422	.	851;917	B4E2Z2;P43246	.;MSH2_HUMAN	V	917;851;703	ENSP00000233146:A917V;ENSP00000442697:A851V	ENSP00000233146:A917V	A	+	2	0	MSH2	47563537	1.000000	0.71417	0.989000	0.46669	0.774000	0.43823	5.020000	0.64066	0.666000	0.31087	0.460000	0.39030	GCA	-	NULL		0.318	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	protein_coding	OTTHUMT00000250805.3	C			47563537	+1	no_errors	NM_000251	genbank	human	reviewed	54_36p	missense	SNP	0.861	T
HDC	3067	genome.wustl.edu	37	15	50534683	50534683	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr15:50534683T>C	ENST00000267845.3	-	12	2165	c.1763A>G	c.(1762-1764)aAc>aGc	p.N588S	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.N555S	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TGGCACACTGTTGCAACTGAG	0.547																																					GBM(95;1627 1936 6910 9570)											0			15											166.0	178.0	174.0					15																	50534683		2196	4295	6491	48321975	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1763A>G	15.37:g.50534683T>C	ENSP00000267845:p.Asn588Ser		48321975		Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC	p.N588S	ENST00000267845.3	37	c.1763	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	T	7.588	0.670207	0.14776	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.10288	3.08;2.89	5.68	3.37	0.38596	.	0.617897	0.15392	N	0.264762	T	0.07593	0.0191	N	0.22421	0.69	0.34536	D	0.709729	B;B	0.14012	0.009;0.004	B;B	0.10450	0.005;0.005	T	0.10636	-1.0621	10	0.49607	T	0.09	-27.1563	7.4704	0.27344	0.0:0.0718:0.2701:0.6581	.	555;588	B7ZM01;P19113	.;DCHS_HUMAN	S	588;555	ENSP00000267845:N588S;ENSP00000440252:N555S	ENSP00000267845:N588S	N	-	2	0	HDC	48321975	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	1.066000	0.30604	0.963000	0.38082	-0.461000	0.05368	AAC	-	NULL		0.547	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	protein_coding	OTTHUMT00000254540.1	T			48321975	-1	no_errors	NM_002112	genbank	human	validated	54_36p	missense	SNP	1.000	C
HDAC6	10013	genome.wustl.edu	37	X	48678597	48678597	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chrX:48678597G>A	ENST00000334136.5	+	23	2450	c.2272G>A	c.(2272-2274)Ggt>Agt	p.G758S	HDAC6_ENST00000444343.2_Missense_Mutation_p.G772S|HDAC6_ENST00000376619.2_Missense_Mutation_p.G758S			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	758	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTCACCTGAGGGTTATGCCCA	0.587																																					Pancreas(112;205 1675 2305 8976 15959)											0			X											82.0	66.0	71.0					X																	48678597		2203	4300	6503	48563541	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2272G>A	X.37:g.48678597G>A	ENSP00000334061:p.Gly758Ser		48563541	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	superfamily_SSF52768,HMMPfam_Hist_deacetyl,HMMSmart_ZnF_UBP,HMMPfam_zf-UBP	p.G758S	ENST00000334136.5	37	c.2272	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	g	16.88	3.244004	0.58995	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72505	-0.66;-0.66;-0.66	5.25	3.41	0.39046	Histone deacetylase domain (2);	0.155822	0.40144	N	0.001161	T	0.78355	0.4270	M	0.64567	1.98	0.80722	D	1	D;D;D;D	0.76494	0.995;0.998;0.999;0.995	D;D;D;D	0.79108	0.959;0.975;0.992;0.959	T	0.73186	-0.4062	10	0.17832	T	0.49	-7.267	11.156	0.48489	0.0:0.0:0.6667:0.3333	.	748;121;406;758	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	S	772;758;758;758	ENSP00000398566:G772S;ENSP00000334061:G758S;ENSP00000365804:G758S	ENSP00000334061:G758S	G	+	1	0	HDAC6	48563541	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	2.865000	0.48412	0.539000	0.28788	0.597000	0.82753	GGT	-	superfamily_SSF52768,HMMPfam_Hist_deacetyl		0.587	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	protein_coding	OTTHUMT00000083394.2	G	NM_006044		48563541	+1	no_errors	NM_006044	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZNF227	7770	genome.wustl.edu	37	19	44739052	44739052	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr19:44739052A>G	ENST00000313040.7	+	6	674	c.469A>G	c.(469-471)Aaa>Gaa	p.K157E	ZNF227_ENST00000589005.1_Missense_Mutation_p.K106E|ZNF227_ENST00000391961.2_Missense_Mutation_p.K106E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AATGAACCCTAAAGGAGATAG	0.383																																																0			19											55.0	57.0	56.0					19																	44739052		2203	4300	6503	49430892	SO:0001583	missense	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.469A>G	19.37:g.44739052A>G	ENSP00000321049:p.Lys157Glu		49430892	B3KRU7|B7Z5P9	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.K157E	ENST00000313040.7	37	c.469	CCDS12636.1	19	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677396	0.29783	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	T;T	0.08282	3.24;3.11	4.27	4.27	0.50696	.	.	.	.	.	T	0.05731	0.0150	N	0.22421	0.69	0.39063	D	0.960557	P;P;P;P	0.37781	0.608;0.608;0.608;0.608	B;B;B;B	0.34590	0.186;0.186;0.186;0.186	T	0.49934	-0.8886	9	0.20046	T	0.44	.	11.6814	0.51458	1.0:0.0:0.0:0.0	.	78;136;109;157	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	E	157;114;106;136	ENSP00000321049:K157E;ENSP00000375823:K106E	ENSP00000321049:K157E	K	+	1	0	ZNF227	49430892	0.039000	0.19947	0.546000	0.28166	0.727000	0.41649	1.158000	0.31737	1.919000	0.55581	0.460000	0.39030	AAA	-	NULL		0.383	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	protein_coding	OTTHUMT00000460720.1	A	NM_182490		49430892	+1	no_errors	NM_182490	genbank	human	provisional	54_36p	missense	SNP	0.003	G
DOCK3	1795	genome.wustl.edu	37	3	51399411	51399411	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:51399411C>A	ENST00000266037.9	+	48	5151	c.5128C>A	c.(5128-5130)Ctg>Atg	p.L1710M		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1710					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCTGAGGACCTGTACCACCA	0.562																																																0			3											75.0	78.0	77.0					3																	51399411		2142	4248	6390	51374451	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5128C>A	3.37:g.51399411C>A	ENSP00000266037:p.Leu1710Met		51374451	O15017	Missense_Mutation	SNP	superfamily_SH3-domain,HMMPfam_SH3_2,HMMPfam_Ded_cyto	p.L1710M	ENST00000266037.9	37	c.5128	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556615	0.27827	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05319	3.46	5.31	2.0	0.26442	.	0.130694	0.50627	D	0.000116	T	0.03305	0.0096	N	0.08118	0	0.31793	N	0.629436	B	0.06786	0.001	B	0.04013	0.001	T	0.13737	-1.0498	10	0.46703	T	0.11	.	8.4241	0.32718	0.3739:0.5444:0.0:0.0817	.	1710	Q8IZD9	DOCK3_HUMAN	M	1710;506	ENSP00000266037:L1710M	ENSP00000266037:L1710M	L	+	1	2	DOCK3	51374451	0.843000	0.29541	1.000000	0.80357	0.914000	0.54420	1.230000	0.32612	0.705000	0.31890	-0.150000	0.13652	CTG	-	NULL		0.562	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	C	NM_004947		51374451	+1	no_errors	NM_004947	genbank	human	validated	54_36p	missense	SNP	0.990	A
ZC3H4	23211	genome.wustl.edu	37	19	47597799	47597799	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr19:47597799G>A	ENST00000253048.5	-	3	265	c.228C>T	c.(226-228)tcC>tcT	p.S76S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	76							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S76S(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGGCCCTCCGGAGGTATCCT	0.522																																																1	Substitution - coding silent(1)	endometrium(1)	19											241.0	243.0	242.0					19																	47597799		1924	4131	6055	52289639	SO:0001819	synonymous_variant	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.228C>T	19.37:g.47597799G>A			52289639	Q9Y420	Silent	SNP	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1	p.S76	ENST00000253048.5	37	c.228	CCDS42582.1	19																																																																																			-	NULL		0.522	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	protein_coding	OTTHUMT00000466667.1	G			52289639	-1	no_errors	NM_015168	genbank	human	validated	54_36p	silent	SNP	0.028	A
TRAM2	9697	genome.wustl.edu	37	6	52372421	52372421	+	Splice_Site	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:52372421C>G	ENST00000182527.3	-	7	555	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	186	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GGAATTTCCTCCTGGAAACAA	0.498																																																0			6											66.0	69.0	68.0					6																	52372421		2203	4300	6503	52480380	SO:0001630	splice_region_variant	9697			D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.556-1G>C	6.37:g.52372421C>G			52480380	A8K6T6	Missense_Mutation	SNP	HMMPfam_TRAM1,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8	p.E186Q	ENST00000182527.3	37	c.556	CCDS34477.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351117	0.82132	.	.	ENSG00000065308	ENST00000182527	D	0.85171	-1.95	5.31	5.31	0.75309	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.87639	0.2521	10	0.36615	T	0.2	.	19.1712	0.93578	0.0:1.0:0.0:0.0	.	186	Q15035	TRAM2_HUMAN	Q	186	ENSP00000182527:E186Q	ENSP00000182527:E186Q	E	-	1	0	TRAM2	52480380	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.265000	0.78442	2.768000	0.95171	0.491000	0.48974	GAG	-	HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8		0.498	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM2	protein_coding	OTTHUMT00000040910.1	C	NM_012288	Missense_Mutation	52480380	-1	no_errors	NM_012288	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MRPS23	51649	genome.wustl.edu	37	17	55918336	55918336	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:55918336G>C	ENST00000313608.8	-	4	416	c.371C>G	c.(370-372)gCt>gGt	p.A124G	MRPS23_ENST00000578444.1_Missense_Mutation_p.A124G	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	124					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					TGCCAATAAAGCCTTCCCTGT	0.398																																																0			17											246.0	217.0	227.0					17																	55918336		2203	4300	6503	53273335	SO:0001583	missense	51649			AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.371C>G	17.37:g.55918336G>C	ENSP00000320184:p.Ala124Gly		53273335	B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	HMMPfam_MRP-S23	p.A124G	ENST00000313608.8	37	c.371	CCDS11598.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591459	0.86851	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.32	5.32	0.75619	Ribosomal protein S23/S25, mitochondrial (1);	0.048477	0.85682	D	0.000000	T	0.78767	0.4335	M	0.81682	2.555	0.58432	D	0.999992	D	0.63880	0.993	D	0.63957	0.92	T	0.81739	-0.0795	9	0.72032	D	0.01	.	15.9149	0.79503	0.0:0.0:1.0:0.0	.	124	Q9Y3D9	RT23_HUMAN	G	124	.	ENSP00000320184:A124G	A	-	2	0	MRPS23	53273335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.415000	0.59809	2.503000	0.84419	0.585000	0.79938	GCT	-	HMMPfam_MRP-S23		0.398	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS23	protein_coding	OTTHUMT00000443301.1	G	NM_016070		53273335	-1	no_errors	NM_016070	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
OR2AP1	121129	genome.wustl.edu	37	12	55968989	55968989	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr12:55968989A>G	ENST00000321688.1	+	1	791	c.791A>G	c.(790-792)gAa>gGa	p.E264G	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001258285.1	NP_001245214.1	Q8NGE2	O2AP1_HUMAN	olfactory receptor, family 2, subfamily AP, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)|ovary(1)	3						TCTGCAAAAGAAGGGGATACA	0.413																																																0			12																																								54255256	SO:0001583	missense	0			BK004260	CCDS58241.1	12q13.2	2012-08-09	2004-12-10	2004-03-10	ENSG00000179615	ENSG00000179615		"""GPCR / Class A : Olfactory receptors"""	15335	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AP, member 1 pseudogene"""	OR2AP1P			Standard	NM_001258285		Approved		uc031qhr.1	Q8NGE2	OTTHUMG00000169960	ENST00000321688.1:c.791A>G	12.37:g.55968989A>G	ENSP00000323423:p.Glu264Gly		54255256		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.E264G	ENST00000321688.1	37	c.791	CCDS58241.1	12	.	.	.	.	.	.	.	.	.	.	A	7.288	0.610501	0.14066	.	.	ENSG00000179615	ENST00000321688	T	0.00183	8.6	4.85	0.816	0.18768	.	0.590445	0.15059	N	0.282864	T	0.00210	0.0006	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37911	-0.9685	7	0.72032	D	0.01	.	9.1972	0.37235	0.581:0.0:0.0:0.419	.	.	.	.	G	264	ENSP00000323423:E264G	ENSP00000323423:E264G	E	+	2	0	OR2AP1	54255256	0.000000	0.05858	0.240000	0.24138	0.112000	0.19704	-0.060000	0.11712	-0.027000	0.13873	0.533000	0.62120	GAA	-	superfamily_SSF81321,HMMPfam_7tm_1		0.413	OR2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AP1	protein_coding	OTTHUMT00000406679.1	A			54255256	+1	no_errors	ENST00000321688	ensembl	human	known	54_36p	missense	SNP	0.001	G
TBPL2	387332	genome.wustl.edu	37	14	55903409	55903409	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:55903409G>T	ENST00000247219.5	-	2	548	c.478C>A	c.(478-480)Cct>Act	p.P160T		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GTATCACCAGGGTGCAGCTGT	0.512																																																0			14											204.0	178.0	187.0					14																	55903409		2203	4300	6503	54973162	SO:0001583	missense	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.478C>A	14.37:g.55903409G>T	ENSP00000247219:p.Pro160Thr		54973162		Missense_Mutation	SNP	superfamily_TFIID_C/glycos_N,HMMPfam_TBP,PatternScan_TFIID	p.P160T	ENST00000247219.5	37	c.478	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	G	5.227	0.227436	0.09916	.	.	ENSG00000182521	ENST00000247219	T	0.50813	0.73	4.79	-1.1	0.09872	.	0.700863	0.14220	N	0.333482	T	0.34890	0.0913	L	0.57536	1.79	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.31223	-0.9951	10	0.48119	T	0.1	-0.5189	1.4039	0.02276	0.136:0.3489:0.209:0.306	.	160	Q6SJ96	TBPL2_HUMAN	T	160	ENSP00000247219:P160T	ENSP00000247219:P160T	P	-	1	0	TBPL2	54973162	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.533000	0.06157	-0.062000	0.13088	0.655000	0.94253	CCT	-	NULL		0.512	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	protein_coding	OTTHUMT00000276916.1	G	NM_199047		54973162	-1	no_errors	NM_199047	genbank	human	validated	54_36p	missense	SNP	0.000	T
OR5L2	26338	genome.wustl.edu	37	11	55595556	55595556	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:55595556C>G	ENST00000378397.1	+	1	862	c.862C>G	c.(862-864)Ctg>Gtg	p.L288V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCTGAACCCCCTGATCTACAG	0.443										HNSCC(27;0.073)																																						0			11											56.0	56.0	56.0					11																	55595556		2200	4296	6496	55352132	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.862C>G	11.37:g.55595556C>G	ENSP00000367650:p.Leu288Val		55352132	Q6IF66|Q96RB2	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L288V	ENST00000378397.1	37	c.862	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	9.547	1.114991	0.20795	.	.	ENSG00000205030	ENST00000378397	T	0.39592	1.07	5.1	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000862	T	0.33585	0.0868	L	0.60904	1.88	0.22666	N	0.99888	B	0.11235	0.004	B	0.15052	0.012	T	0.31971	-0.9924	10	0.56958	D	0.05	-20.3286	3.959	0.09403	0.1625:0.5495:0.0:0.288	.	288	Q8NGL0	OR5L2_HUMAN	V	288	ENSP00000367650:L288V	ENSP00000367650:L288V	L	+	1	2	OR5L2	55352132	0.000000	0.05858	0.636000	0.29352	0.609000	0.37215	-1.539000	0.02202	0.204000	0.20548	0.536000	0.68110	CTG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.443	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	protein_coding	OTTHUMT00000391516.1	C	NM_001004739		55352132	+1	no_errors	NM_001004739	genbank	human	provisional	54_36p	missense	SNP	0.034	G
PPAT	5471	genome.wustl.edu	37	4	57269537	57269537	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:57269537T>A	ENST00000264220.2	-	4	570	c.433A>T	c.(433-435)Agt>Tgt	p.S145C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	145	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	CTATCAGAACTTGTAGACAGA	0.473																																																0			4											72.0	69.0	70.0					4																	57269537		2203	4300	6503	56964294	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.433A>T	4.37:g.57269537T>A	ENSP00000264220:p.Ser145Cys		56964294		Missense_Mutation	SNP	HMMPfam_GATase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),superfamily_PRTase-like,HMMPfam_Pribosyltran	p.S145C	ENST00000264220.2	37	c.433	CCDS3505.1	4	.	.	.	.	.	.	.	.	.	.	T	10.83	1.459856	0.26248	.	.	ENSG00000128059	ENST00000264220	T	0.78003	-1.14	5.51	2.67	0.31697	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.247806	0.52532	D	0.000071	T	0.69415	0.3108	L	0.49571	1.57	0.41823	D	0.990035	B	0.09022	0.002	B	0.17979	0.02	T	0.66858	-0.5817	10	0.66056	D	0.02	-14.5494	7.8384	0.29384	0.13:0.0783:0.0:0.7916	.	145	Q06203	PUR1_HUMAN	C	145	ENSP00000264220:S145C	ENSP00000264220:S145C	S	-	1	0	PPAT	56964294	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	1.919000	0.40015	0.883000	0.36040	0.533000	0.62120	AGT	-	HMMPfam_GATase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases)		0.473	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAT	protein_coding	OTTHUMT00000250781.2	T	NM_002703		56964294	-1	no_errors	NM_002703	genbank	human	reviewed	54_36p	missense	SNP	0.970	A
OR10W1	81341	genome.wustl.edu	37	11	58035342	58035342	+	5'UTR	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:58035342G>T	ENST00000395079.2	-	0	390					NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AACACTGAGTGATTTTCCCAG	0.433																																																0			11											41.0	39.0	40.0					11																	58035342		2201	4294	6495	57791918	SO:0001623	5_prime_UTR_variant	81341			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.-12C>A	11.37:g.58035342G>T			57791918	A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.H6N	ENST00000395079.2	37	c.16	CCDS7968.1	11																																																																																			-	superfamily_SSF81321		0.433	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	protein_coding	OTTHUMT00000394704.1	G	NM_207374		57791918	-1	no_start_codon:no_stop_codon	ENST00000395079	ensembl	human	known	54_36p	missense	SNP	0.001	T
FGGY	55277	genome.wustl.edu	37	1	60073477	60073477	+	Silent	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:60073477C>T	ENST00000303721.7	+	9	1080	c.906C>T	c.(904-906)atC>atT	p.I302I	FGGY_ENST00000371212.1_Silent_p.I214I|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Silent_p.I302I|FGGY_ENST00000371210.1_Silent_p.I3I	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	302					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTTTCCAGATCAGCAAAGACC	0.463																																																0			1											109.0	113.0	111.0					1																	60073477		2203	4300	6503	59846065	SO:0001819	synonymous_variant	55277				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.906C>T	1.37:g.60073477C>T			59846065	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	superfamily_SSF53067,HMMPfam_FGGY_C	p.I190	ENST00000303721.7	37	c.570	CCDS611.2	1																																																																																			-	superfamily_SSF53067		0.463	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	protein_coding	OTTHUMT00000023210.2	C	NM_001113411		59846065	+1	no_errors	NM_018291	genbank	human	validated	54_36p	silent	SNP	1.000	T
PRICKLE2	166336	genome.wustl.edu	37	3	64085106	64085106	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:64085106G>C	ENST00000295902.6	-	8	2741	c.2156C>G	c.(2155-2157)gCc>gGc	p.A719G	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A775G	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	719	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCCTCCCTGGCTCTCAGAGG	0.637																																																0			3											47.0	50.0	49.0					3																	64085106		2203	4300	6503	64060146	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2156C>G	3.37:g.64085106G>C	ENSP00000295902:p.Ala719Gly		64060146	Q0VF44	Missense_Mutation	SNP	HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716	p.A719G	ENST00000295902.6	37	c.2156	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369994	0.42003	.	.	ENSG00000163637	ENST00000295902	D	0.85088	-1.94	5.33	5.33	0.75918	.	0.076821	0.53938	D	0.000042	T	0.81069	0.4746	L	0.40543	1.245	0.47153	D	0.99933	B	0.31125	0.309	B	0.26770	0.073	T	0.79403	-0.1818	10	0.49607	T	0.09	-31.676	19.3767	0.94512	0.0:0.0:1.0:0.0	.	719	Q7Z3G6	PRIC2_HUMAN	G	719	ENSP00000295902:A719G	ENSP00000295902:A719G	A	-	2	0	PRICKLE2	64060146	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.882000	0.63121	2.651000	0.90000	0.591000	0.81541	GCC	-	NULL		0.637	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	protein_coding	OTTHUMT00000352219.1	G	NM_198859		64060146	-1	no_errors	NM_198859	genbank	human	validated	54_36p	missense	SNP	1.000	C
NRXN2	9379	genome.wustl.edu	37	11	64417970	64417970	+	Missense_Mutation	SNP	G	G	T	rs369737815		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:64417970G>T	ENST00000377551.1	-	14	3270	c.3059C>A	c.(3058-3060)tCc>tAc	p.S1020Y	NRXN2_ENST00000409571.1_Missense_Mutation_p.S1013Y|NRXN2_ENST00000377559.3_Missense_Mutation_p.S980Y|NRXN2_ENST00000265459.6_Missense_Mutation_p.S1020Y|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1020	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GACAGTGCGGGAGTCAATCTT	0.592																																																0			11											290.0	227.0	248.0					11																	64417970		2201	4297	6498	64174546	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3059C>A	11.37:g.64417970G>T	ENSP00000366774:p.Ser1020Tyr		64174546	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294	p.S1020Y	ENST00000377551.1	37	c.3059	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109235	0.77096	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42964	U	0.000625	D	0.83894	0.5353	L	0.45581	1.43	0.48975	D	0.999732	D;D;D	0.65815	0.982;0.99;0.995	D;P;D	0.64776	0.926;0.871;0.929	D	0.84388	0.0553	10	0.62326	D	0.03	.	10.8418	0.46720	0.0:0.1915:0.8085:0.0	.	980;1020;766	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	Y	1020;980;1020;980;1013	ENSP00000366774:S1020Y;ENSP00000366782:S980Y;ENSP00000265459:S1020Y;ENSP00000386416:S1013Y	ENSP00000265459:S1020Y	S	-	2	0	NRXN2	64174546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.407000	0.73280	2.488000	0.83962	0.655000	0.94253	TCC	-	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	protein_coding	OTTHUMT00000104967.3	G	NM_015080		64174546	-1	no_errors	NM_015080	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MIR124-2HG	100130155	genome.wustl.edu	37	8	65291798	65291798	+	lincRNA	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:65291798C>A	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							AGAGCGGAGCCTACGGCTGCA	0.493																																																0			8											52.0	51.0	51.0					8																	65291798		1568	3582	5150	65454352			0																															8.37:g.65291798C>A			65454352		RNA	SNP	-	NULL	ENST00000521441.1	37	NULL		8																																																																																			-	-		0.493	LINC00966-004	KNOWN	basic	lincRNA	MIRN124-2	lincRNA	OTTHUMT00000378434.1	C			65454352	+1	no_errors	ENST00000385081	ensembl	human	known	54_36p	rna	SNP	1.000	A
FAM65A	79567	genome.wustl.edu	37	16	67572563	67572563	+	Splice_Site	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr16:67572563C>A	ENST00000379312.3	+	3	226	c.105C>A	c.(103-105)agC>agA	p.S35R	FAM65A_ENST00000422602.2_Intron|FAM65A_ENST00000428437.2_Intron|FAM65A_ENST00000042381.4_Intron|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Intron|FAM65A_ENST00000566522.1_Intron	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	35						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTGAGGACAGCCTCTCCTTCA	0.662																																																0			16											30.0	34.0	32.0					16																	67572563		2142	4215	6357	66130064	SO:0001630	splice_region_variant	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.105-1C>A	16.37:g.67572563C>A			66130064	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM repeat	p.S35R	ENST00000379312.3	37	c.105	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804739	0.16467	.	.	ENSG00000039523	ENST00000379312	T	0.14391	2.51	5.25	3.24	0.37175	.	.	.	.	.	T	0.11965	0.0291	L	0.34521	1.04	0.80722	D	1	.	.	.	.	.	.	T	0.20672	-1.0268	6	.	.	.	.	4.8642	0.13600	0.1672:0.6436:0.0:0.1892	.	.	.	.	R	35	ENSP00000368614:S35R	.	S	+	3	2	FAM65A	66130064	0.000000	0.05858	0.002000	0.10522	0.432000	0.31715	0.741000	0.26202	0.552000	0.29026	0.491000	0.48974	AGC	-	NULL		0.662	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	protein_coding	OTTHUMT00000268866.3	C	NM_024519	Missense_Mutation	66130064	+1	no_errors	ENST00000379312	ensembl	human	known	54_36p	missense	SNP	0.000	A
RIMS1	22999	genome.wustl.edu	37	6	72967885	72967885	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:72967885A>C	ENST00000521978.1	+	17	2828	c.2828A>C	c.(2827-2829)cAg>cCg	p.Q943P	RIMS1_ENST00000348717.5_Missense_Mutation_p.Q942P|RIMS1_ENST00000517960.1_Missense_Mutation_p.Q942P|RIMS1_ENST00000518273.1_Missense_Mutation_p.Q943P|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.Q942P|RIMS1_ENST00000517827.1_Missense_Mutation_p.Q402P|RIMS1_ENST00000401910.3_Missense_Mutation_p.Q416P|RIMS1_ENST00000522291.1_Missense_Mutation_p.Q942P|RIMS1_ENST00000523963.1_Missense_Mutation_p.Q417P|RIMS1_ENST00000425662.2_Missense_Mutation_p.Q336P|RIMS1_ENST00000264839.7_Missense_Mutation_p.Q943P|RIMS1_ENST00000491071.2_Missense_Mutation_p.Q943P	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	943					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTGCCAGAACAGCAAAGAACA	0.428																																																0			6											96.0	92.0	93.0					6																	72967885		1983	4158	6141	73024606	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2828A>C	6.37:g.72967885A>C	ENSP00000428417:p.Gln943Pro		73024606	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	superfamily_FYVE/PHD zinc finger,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_GLYCOSYL_HYDROL_F1_1	p.Q943P	ENST00000521978.1	37	c.2828	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.085620|4.085620	0.76642|0.76642	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000522211	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.22336|.	2.26;2.52;2.35;2.52;2.41;2.45;2.48;2.3;2.46;2.41;2.47;2.41;2.45;1.96|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.096591|.	0.45126|.	D|.	0.000393|.	T|T	0.62732|0.62732	0.2452|0.2452	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D;D;D;D;P;P;D|.	0.71674|.	0.995;0.576;0.998;0.994;0.987;0.99;0.974;0.997;0.973;0.913;0.945;0.984|.	D;B;D;P;P;P;P;D;D;P;B;P|.	0.77557|.	0.943;0.059;0.99;0.759;0.905;0.898;0.696;0.916;0.921;0.582;0.424;0.642|.	T|T	0.63712|0.63712	-0.6575|-0.6575	10|5	0.72032|.	D|.	0.01|.	-16.5345|-16.5345	15.0624|15.0624	0.71964|0.71964	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	402;417;943;402;416;942;195;943;942;196;943;943|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	P|R	943;943;943;942;943;942;943;942;943;942;942;943;416;417;336;336;402;168|34	ENSP00000430101:Q943P;ENSP00000275037:Q942P;ENSP00000264839:Q943P;ENSP00000429959:Q942P;ENSP00000430408:Q943P;ENSP00000430502:Q942P;ENSP00000430932:Q942P;ENSP00000428417:Q943P;ENSP00000385649:Q416P;ENSP00000428328:Q417P;ENSP00000411235:Q336P;ENSP00000389503:Q336P;ENSP00000428367:Q402P;ENSP00000359448:Q168P|.	ENSP00000264839:Q943P|.	Q|S	+|+	2|1	0|0	RIMS1|RIMS1	73024606|73024606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.726000|0.726000	0.41606|0.41606	9.085000|9.085000	0.94083|0.94083	1.971000|1.971000	0.57363|0.57363	0.477000|0.477000	0.44152|0.44152	CAG|AGC	-	NULL		0.428	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	protein_coding	OTTHUMT00000374968.1	A			73024606	+1	no_errors	NM_014989	genbank	human	validated	54_36p	missense	SNP	1.000	C
CANT1	124583	genome.wustl.edu	37	17	76993257	76993257	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:76993257C>G	ENST00000302345.2	-	2	942	c.448G>C	c.(448-450)Gac>Cac	p.D150H	CANT1_ENST00000392446.5_Missense_Mutation_p.D150H|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.D150H	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	150					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCCCATGGTCTTTGTCCCAT	0.557			T	ETV4	prostate																																		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0			17											154.0	151.0	152.0					17																	76993257		2203	4300	6503	74504852	SO:0001583	missense	124583			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.448G>C	17.37:g.76993257C>G	ENSP00000307674:p.Asp150His		74504852	B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	superfamily_Apyrase,HMMPfam_Apyrase	p.D150H	ENST00000302345.2	37	c.448	CCDS11760.1	17	.	.	.	.	.	.	.	.	.	.	C	7.012	0.557070	0.13436	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.86497	-2.13;-2.13	5.27	3.29	0.37713	.	0.382752	0.31589	N	0.007400	T	0.77478	0.4136	L	0.27053	0.805	0.19300	N	0.99998	B	0.09022	0.002	B	0.11329	0.006	T	0.66590	-0.5885	10	0.52906	T	0.07	-11.8129	7.616	0.28158	0.0:0.7142:0.1364:0.1494	.	150	Q8WVQ1	CANT1_HUMAN	H	150;150;150;99	ENSP00000307674:D150H;ENSP00000376241:D150H	ENSP00000307674:D150H	D	-	1	0	CANT1	74504852	0.831000	0.29352	0.002000	0.10522	0.166000	0.22503	3.619000	0.54196	0.608000	0.30000	0.561000	0.74099	GAC	-	superfamily_Apyrase,HMMPfam_Apyrase		0.557	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CANT1	protein_coding	OTTHUMT00000437723.2	C	NM_138793		74504852	-1	no_errors	NM_138793	genbank	human	provisional	54_36p	missense	SNP	0.005	G
HK2	3099	genome.wustl.edu	37	2	75116541	75116541	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:75116541C>T	ENST00000290573.2	+	17	3145	c.2545C>T	c.(2545-2547)Cgt>Tgt	p.R849C	HK2_ENST00000409174.1_Missense_Mutation_p.R821C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	849	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ACGAGAAAACCGTGGGCTGGA	0.612																																																0			2											97.0	88.0	91.0					2																	75116541		2203	4300	6503	74970049	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2545C>T	2.37:g.75116541C>T	ENSP00000290573:p.Arg849Cys		74970049	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	HMMPfam_Hexokinase_1,superfamily_SSF53067,PatternScan_HEXOKINASES,HMMPfam_Hexokinase_2	p.R849C	ENST00000290573.2	37	c.2545	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821695	0.71028	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97041	-4.22;-4.22	4.97	4.97	0.65823	Hexokinase, C-terminal (1);	0.112567	0.64402	N	0.000009	D	0.98507	0.9502	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99143	1.0856	10	0.66056	D	0.02	-4.6187	15.7654	0.78123	0.0:1.0:0.0:0.0	.	849	P52789	HXK2_HUMAN	C	849;849;821	ENSP00000290573:R849C;ENSP00000387140:R821C	ENSP00000290573:R849C	R	+	1	0	HK2	74970049	1.000000	0.71417	0.994000	0.49952	0.613000	0.37349	2.397000	0.44477	2.596000	0.87737	0.561000	0.74099	CGT	-	HMMPfam_Hexokinase_2,superfamily_SSF53067		0.612	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	protein_coding	OTTHUMT00000252238.2	C	NM_000189		74970049	+1	no_errors	NM_000189	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
LHX8	431707	genome.wustl.edu	37	1	75626572	75626572	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:75626572C>T	ENST00000294638.5	+	10	1727	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	LHX8_ENST00000356261.3_Missense_Mutation_p.H345Y	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	355					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GCCAATAAGTCATACCTAATT	0.308																																																0			1											122.0	120.0	120.0					1																	75626572		2203	4299	6502	75399160	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.1063C>T	1.37:g.75626572C>T	ENSP00000294638:p.His355Tyr		75399160	E9PGE3	Missense_Mutation	SNP	superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.H355Y	ENST00000294638.5	37	c.1063	CCDS30756.1	1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836593	0.71373	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86230	-2.09;-2.07	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88551	0.6467	L	0.29908	0.895	0.58432	D	0.99999	D	0.57899	0.981	D	0.67900	0.954	D	0.89649	0.3868	10	0.72032	D	0.01	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	355	Q68G74	LHX8_HUMAN	Y	355;345	ENSP00000294638:H355Y;ENSP00000348597:H345Y	ENSP00000294638:H355Y	H	+	1	0	LHX8	75399160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.982000	0.76173	2.699000	0.92147	0.655000	0.94253	CAT	-	NULL		0.308	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	protein_coding	OTTHUMT00000026700.1	C	NM_001001933		75399160	+1	no_errors	NM_001001933	genbank	human	validated	54_36p	missense	SNP	1.000	T
SLC44A5	204962	genome.wustl.edu	37	1	75683566	75683566	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:75683566C>G	ENST00000370855.5	-	18	1722	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	SLC44A5_ENST00000370859.3_Missense_Mutation_p.D537H|SLC44A5_ENST00000535611.1_Missense_Mutation_p.D407H	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	537					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGACGGTGGTCCAAGTATTCT	0.348																																																0			1											56.0	59.0	58.0					1																	75683566		2203	4299	6502	75456154	SO:0001583	missense	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1609G>C	1.37:g.75683566C>G	ENSP00000359892:p.Asp537His		75456154	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	HMMPfam_DUF580	p.D537H	ENST00000370855.5	37	c.1609	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	c	13.39	2.221992	0.39300	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.23950	1.88;1.88;1.88	5.93	2.66	0.31614	.	0.243530	0.47093	D	0.000251	T	0.32010	0.0815	L	0.61387	1.9	0.41759	D	0.989707	P;D;D;D;D	0.76494	0.578;0.971;0.983;0.999;0.963	P;P;P;D;P	0.78314	0.476;0.838;0.907;0.991;0.79	T	0.05338	-1.0891	10	0.29301	T	0.29	-6.5784	12.9321	0.58292	0.0:0.7953:0.0:0.2047	.	531;576;537;537;576	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	H	537;576;537;407;530	ENSP00000359896:D537H;ENSP00000359892:D537H;ENSP00000443090:D407H	ENSP00000359892:D537H	D	-	1	0	SLC44A5	75456154	1.000000	0.71417	0.796000	0.32109	0.006000	0.05464	2.517000	0.45529	0.879000	0.35944	-0.698000	0.03680	GAC	-	HMMPfam_DUF580		0.348	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	protein_coding	OTTHUMT00000026921.1	C	NM_152697		75456154	-1	no_errors	NM_152697	genbank	human	validated	54_36p	missense	SNP	1.000	G
GAB2	9846	genome.wustl.edu	37	11	77930400	77930400	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:77930400T>C	ENST00000361507.4	-	10	2034	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	GAB2_ENST00000340149.2_Missense_Mutation_p.K612R	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	650					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGCCTGGGTCTTCTCCTTGTC	0.577																																																0			11											141.0	112.0	122.0					11																	77930400		2200	4292	6492	77608048	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1949A>G	11.37:g.77930400T>C	ENSP00000354952:p.Lys650Arg		77608048	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.K650R	ENST00000361507.4	37	c.1949	CCDS8259.1	11	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550781	0.86127	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.24350	1.86;1.86	5.34	5.34	0.76211	.	0.060895	0.64402	U	0.000005	T	0.24509	0.0594	L	0.42632	1.34	0.54753	D	0.999983	B	0.20887	0.049	B	0.17433	0.018	T	0.02581	-1.1138	10	0.32370	T	0.25	-18.9489	15.6234	0.76829	0.0:0.0:0.0:1.0	.	650	Q9UQC2	GAB2_HUMAN	R	612;650	ENSP00000343959:K612R;ENSP00000354952:K650R	ENSP00000343959:K612R	K	-	2	0	GAB2	77608048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.219000	0.72231	2.146000	0.66826	0.377000	0.23210	AAG	-	NULL		0.577	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB2	protein_coding	OTTHUMT00000391085.1	T	NM_080491		77608048	-1	no_errors	NM_080491	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	X	79816898	79816898	+	IGR	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chrX:79816898C>A								FAM46D (116088 upstream) : BRWD3 (109454 downstream)																							ACCTGCTCTACCATTACGGCC	0.592																																																0			X																																								79703554	SO:0001628	intergenic_variant	727874																															X.37:g.79816898C>A			79703554		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.592					LOC727874			C			79703554	+1	pseudogene	XR_042356	genbank	human	model	54_36p	rna	SNP	1.000	A
DNAH6	1768	genome.wustl.edu	37	2	84780045	84780045	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:84780045A>T	ENST00000237449.6	+	9	1497	c.1489A>T	c.(1489-1491)Acc>Tcc	p.T497S	DNAH6_ENST00000389394.3_Missense_Mutation_p.T497S|DNAH6_ENST00000398278.2_Missense_Mutation_p.T497S			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	497	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTCAGGGGACCCTTATGGT	0.358																																																0			2											125.0	122.0	123.0					2																	84780045		2203	4300	6503	84633556	SO:0001583	missense	284944			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1489A>T	2.37:g.84780045A>T	ENSP00000237449:p.Thr497Ser		84633556	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.T497S	ENST00000237449.6	37	c.1489	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	A	5.021	0.189621	0.09547	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24723	1.84;1.97;1.84	5.41	-3.24	0.05094	.	1.044680	0.07555	N	0.916019	T	0.12305	0.0299	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38908	-0.9639	10	0.12766	T	0.61	.	8.8284	0.35069	0.1311:0.6103:0.1687:0.0899	.	497;76	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	S	497	ENSP00000374045:T497S;ENSP00000381326:T497S;ENSP00000237449:T497S	ENSP00000237449:T497S	T	+	1	0	DNAH6	84633556	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.720000	0.04969	-0.450000	0.07107	-1.301000	0.01330	ACC	-	NULL		0.358	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNHL1	protein_coding	OTTHUMT00000328537.2	A	NM_001370		84633556	+1	no_errors	ENST00000237449	ensembl	human	known	54_36p	missense	SNP	0.000	T
HS2ST1	9653	genome.wustl.edu	37	1	87558328	87558328	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:87558328G>A	ENST00000370550.5	+	4	927	c.564G>A	c.(562-564)cgG>cgA	p.R188R	RP5-1052I5.2_ENST00000370548.2_Silent_p.R162R|HS2ST1_ENST00000356813.4_Silent_p.R162R|HS2ST1_ENST00000370551.4_Silent_p.R188R	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	188					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CAGGGTTACGGAGACGAAAAC	0.303																																																0			1											71.0	77.0	75.0					1																	87558328		2203	4295	6498	87330916	SO:0001819	synonymous_variant	9653			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.564G>A	1.37:g.87558328G>A			87330916	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Silent	SNP	HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R188	ENST00000370550.5	37	c.564	CCDS711.1	1																																																																																			-	HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.303	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS2ST1	protein_coding	OTTHUMT00000028279.2	G	NM_012262		87330916	+1	no_errors	NM_012262	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
DCAF4L2	138009	genome.wustl.edu	37	8	88886141	88886141	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:88886141C>T	ENST00000319675.3	-	1	155	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	20										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGTCCCACTCTGACTGTCTT	0.527																																																0			8											70.0	66.0	68.0					8																	88886141		2203	4300	6503	88955257	SO:0001583	missense	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.59G>A	8.37:g.88886141C>T	ENSP00000316496:p.Arg20Lys		88955257		Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40	p.R20K	ENST00000319675.3	37	c.59	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276278	0.40294	.	.	ENSG00000176566	ENST00000319675	T	0.71817	-0.6	2.23	2.23	0.28157	WD40 repeat-like-containing domain (1);	0.044536	0.85682	D	0.000000	T	0.74726	0.3754	M	0.71581	2.175	0.09310	N	1	D	0.59767	0.986	P	0.54924	0.764	T	0.65565	-0.6137	10	0.66056	D	0.02	.	8.095	0.30822	0.0:1.0:0.0:0.0	.	20	Q8NA75	DC4L2_HUMAN	K	20	ENSP00000316496:R20K	ENSP00000316496:R20K	R	-	2	0	DCAF4L2	88955257	0.466000	0.25823	0.005000	0.12908	0.012000	0.07955	2.494000	0.45329	0.936000	0.37367	0.467000	0.42956	AGA	-	superfamily_WD40_like		0.527	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR21C	protein_coding	OTTHUMT00000375302.1	C	NM_152418		88955257	-1	no_errors	NM_152418	genbank	human	validated	54_36p	missense	SNP	0.482	T
HERC3	8916	genome.wustl.edu	37	4	89625685	89625685	+	Silent	SNP	G	G	A	rs150630116	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:89625685G>A	ENST00000402738.1	+	25	3107	c.2868G>A	c.(2866-2868)tcG>tcA	p.S956S	HERC3_ENST00000543130.1_Silent_p.S400S|HERC3_ENST00000264345.3_Silent_p.S956S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	956	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAGATTACTCGGCCACACATC	0.333																																																0			4						G		2,4404	4.2+/-10.8	0,2,2201	84.0	85.0	85.0		2868	3.1	1.0	4	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HERC3	NM_014606.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		956/1051	89625685	3,13003	2203	4300	6503	89844708	SO:0001819	synonymous_variant	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2868G>A	4.37:g.89625685G>A			89844708	A8K1S5|Q8IXX3	Silent	SNP	superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.S956	ENST00000402738.1	37	c.2868	CCDS34028.1	4																																																																																			-	superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT		0.333	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	protein_coding	OTTHUMT00000318081.2	G	NM_014606		89844708	+1	no_errors	NM_014606	genbank	human	provisional	54_36p	silent	SNP	0.688	A
GPRIN3	285513	genome.wustl.edu	37	4	90168980	90168980	+	Missense_Mutation	SNP	C	C	T	rs147735218	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:90168980C>T	ENST00000609438.1	-	2	2800	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R761Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	761										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GTTGGGGCGTCGGAAGTTCTG	0.473													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17100	0.0		0.0	False		,,,				2504	0.0															0			4						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	115.0	114.0		2282	5.3	0.1	4	dbSNP_134	114	0,8600		0,0,4300	no	missense	GPRIN3	NM_198281.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	761/777	90168980	1,13005	2203	4300	6503	90388003	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2282G>A	4.37:g.90168980C>T	ENSP00000476603:p.Arg761Gln		90388003	Q8IVE4	Missense_Mutation	SNP	NULL	p.R761Q	ENST00000609438.1	37	c.2282	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.219918	0.95139	2.27E-4	0.0	ENSG00000185477	ENST00000333209	T	0.28069	1.63	5.26	5.26	0.73747	.	0.000000	0.30501	N	0.009488	T	0.49592	0.1566	L	0.39898	1.24	0.43421	D	0.995577	D	0.89917	1.0	D	0.97110	1.0	T	0.48779	-0.9005	10	0.87932	D	0	-12.8158	19.0719	0.93143	0.0:1.0:0.0:0.0	.	761	Q6ZVF9	GRIN3_HUMAN	Q	761	ENSP00000328672:R761Q	ENSP00000328672:R761Q	R	-	2	0	GPRIN3	90388003	1.000000	0.71417	0.085000	0.20634	0.976000	0.68499	7.289000	0.78701	2.734000	0.93682	0.655000	0.94253	CGA	-	NULL		0.473	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	protein_coding	OTTHUMT00000363540.2	C	NM_198281		90388003	-1	no_errors	NM_198281	genbank	human	validated	54_36p	missense	SNP	0.445	T
TC2N	123036	genome.wustl.edu	37	14	92253873	92253873	+	Silent	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:92253873T>G	ENST00000435962.2	-	10	1469	c.1146A>C	c.(1144-1146)tcA>tcC	p.S382S	TC2N_ENST00000360594.5_Silent_p.S382S|TC2N_ENST00000556018.1_Silent_p.S318S|TC2N_ENST00000340892.5_Silent_p.S382S	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	382	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCAGAGGTGTTGATGAGCTTG	0.353																																																0			14											121.0	108.0	113.0					14																	92253873		2203	4300	6503	91323626	SO:0001819	synonymous_variant	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1146A>C	14.37:g.92253873T>G			91323626		Silent	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.S382	ENST00000435962.2	37	c.1146	CCDS9897.1	14																																																																																			-	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2		0.353	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	protein_coding	OTTHUMT00000411778.1	T	NM_152332		91323626	-1	no_errors	NM_152332	genbank	human	validated	54_36p	silent	SNP	0.970	G
SLC36A4	120103	genome.wustl.edu	37	11	92881749	92881749	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:92881749G>C	ENST00000326402.4	-	11	1599	c.1469C>G	c.(1468-1470)cCt>cGt	p.P490R	SLC36A4_ENST00000529184.1_Missense_Mutation_p.P355R	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	490					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTTAGAAAAGGACTCTGTGG	0.338																																																0			11											95.0	109.0	104.0					11																	92881749		2201	4297	6498	92521397	SO:0001583	missense	120103			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1469C>G	11.37:g.92881749G>C	ENSP00000317382:p.Pro490Arg		92521397	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	HMMPfam_Aa_trans	p.P490R	ENST00000326402.4	37	c.1469	CCDS8291.1	11	.	.	.	.	.	.	.	.	.	.	G	9.928	1.213909	0.22289	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	T;T	0.04083	3.8;3.71	5.41	3.44	0.39384	.	0.452872	0.23650	N	0.045927	T	0.03477	0.0100	L	0.29908	0.895	0.09310	N	1	B	0.23735	0.09	B	0.20577	0.03	T	0.46148	-0.9212	10	0.15066	T	0.55	0.5015	6.982	0.24708	0.3993:0.0:0.6007:0.0	.	490	Q6YBV0	S36A4_HUMAN	R	490;355	ENSP00000317382:P490R;ENSP00000436570:P355R	ENSP00000317382:P490R	P	-	2	0	SLC36A4	92521397	0.066000	0.20996	0.007000	0.13788	0.258000	0.26162	1.991000	0.40727	0.664000	0.31047	0.555000	0.69702	CCT	-	NULL		0.338	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A4	protein_coding	OTTHUMT00000394329.2	G			92521397	-1	no_errors	NM_152313	genbank	human	provisional	54_36p	missense	SNP	0.001	C
SLC15A1	6564	genome.wustl.edu	37	13	99378650	99378650	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr13:99378650G>A	ENST00000376503.5	-	3	130	c.75C>T	c.(73-75)tgC>tgT	p.C25C		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	25					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAAATCTTTCGCAAAACTCAT	0.453																																																0			13											84.0	79.0	81.0					13																	99378650		2203	4300	6503	98176651	SO:0001819	synonymous_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.75C>T	13.37:g.99378650G>A			98176651	Q5VW82	Silent	SNP	superfamily_MFS general substrate transporter,PatternScan_PTR2_1,HMMPfam_PTR2,PatternScan_PTR2_2	p.C25	ENST00000376503.5	37	c.75	CCDS9489.1	13																																																																																			-	superfamily_MFS general substrate transporter		0.453	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	protein_coding	OTTHUMT00000045560.3	G	NM_005073		98176651	-1	no_errors	NM_005073	genbank	human	validated	54_36p	silent	SNP	0.997	A
AZGP1	563	genome.wustl.edu	37	7	99569569	99569569	+	Missense_Mutation	SNP	G	G	A	rs142669146		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:99569569G>A	ENST00000292401.4	-	2	273	c.137C>T	c.(136-138)gCg>gTg	p.A46V	AZGP1_ENST00000411734.1_Missense_Mutation_p.A43V	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	46					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGCCTGAAACGCGGGGACGTC	0.493																																																0			7						G	VAL/ALA	0,4406		0,0,2203	95.0	91.0	92.0		137	-3.0	0.0	7	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	AZGP1	NM_001185.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	46/299	99569569	1,13005	2203	4300	6503	99407505	SO:0001583	missense	563			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.137C>T	7.37:g.99569569G>A	ENSP00000292401:p.Ala46Val		99407505	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC	p.A46V	ENST00000292401.4	37	c.137	CCDS5680.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.196|6.196	0.404290|0.404290	0.11754|0.11754	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160862|ENSG00000160862	ENST00000292401;ENST00000411734|ENST00000419575	D;D|.	0.89050|.	-2.46;-2.46|.	1.51|1.51	-3.02|-3.02	0.05446|0.05446	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	2.531660|.	0.02133|.	U|.	0.056538|.	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	B|.	0.22851|.	0.076|.	B|.	0.14578|.	0.011|.	T|T	0.24048|0.24048	-1.0171|-1.0171	10|5	0.87932|.	D|.	0|.	.|.	4.3489|4.3489	0.11146|0.11146	0.0:0.5104:0.1979:0.2917|0.0:0.5104:0.1979:0.2917	.|.	46|.	P25311|.	ZA2G_HUMAN|.	V|C	46;43|17	ENSP00000292401:A46V;ENSP00000396093:A43V|.	ENSP00000292401:A46V|.	A|R	-|-	2|1	0|0	AZGP1|AZGP1	99407505|99407505	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.357000|-0.357000	0.07651|0.07651	-1.296000|-1.296000	0.02353|0.02353	-2.301000|-2.301000	0.00260|0.00260	GCG|CGT	-	HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain		0.493	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZGP1	protein_coding	OTTHUMT00000059387.4	G	NM_001185		99407505	-1	no_errors	NM_001185	genbank	human	validated	54_36p	missense	SNP	0.019	A
SNORD113-6	767566	genome.wustl.edu	37	14	101404534	101404534	+	RNA	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:101404534A>T	ENST00000363345.2	+	0	0				SNORD112_ENST00000516335.1_RNA|SNORD113-5_ENST00000607261.1_RNA|SNORD113-4_ENST00000364802.1_RNA|SNORD112_ENST00000516109.1_RNA|SNORD113-7_ENST00000363762.1_RNA	NR_003234.1				small nucleolar RNA, C/D box 113-6																		TGGATCAATGATGAGTATTGG	0.358																																																0			14											192.0	178.0	182.0					14																	101404534		876	1991	2867	100474287			0					14q32.31	2013-09-05			ENSG00000200215	ENSG00000200215		"""ncRNAs / Small nucleolar RNAs : C/D box containing"""	32985	non-coding RNA	RNA, small nucleolar						12045206	Standard	NR_003234		Approved	14q(I-6)	uc001yin.3				14.37:g.101404534A>T			100474287		RNA	SNP	-	NULL	ENST00000363345.2	37	NULL		14																																																																																			-	-		0.358	SNORD113-6-201	KNOWN	basic	snoRNA	SNORD113-5	snoRNA		A	NR_003234.1		100474287	+1	no_errors	NR_003233	genbank	human	provisional	54_36p	rna	SNP	0.021	T
MMP27	64066	genome.wustl.edu	37	11	102562594	102562594	+	Missense_Mutation	SNP	G	G	A	rs139805314		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:102562594G>A	ENST00000260229.4	-	10	1536	c.1445C>T	c.(1444-1446)gCa>gTa	p.A482V		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	482	Required for retention in the endoplasmic reticulum. {ECO:0000269|PubMed:24548619}.				collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCCTGAATGTGCTTTTTCCTT	0.299																																																0			11											131.0	129.0	129.0					11																	102562594		2203	4298	6501	102067804	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1445C>T	11.37:g.102562594G>A	ENSP00000260229:p.Ala482Val		102067804	Q6UWK6	Missense_Mutation	SNP	"HMMPfam_PG_binding_1,superfamily_PGBD-like,PatternScan_CYSTEINE_SWITCH,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN"	p.A482V	ENST00000260229.4	37	c.1445	CCDS8319.1	11	.	.	.	.	.	.	.	.	.	.	G	5.584	0.292544	0.10567	.	.	ENSG00000137675	ENST00000260229	T	0.13196	2.61	5.71	1.12	0.20585	.	1.491800	0.04084	N	0.310136	T	0.11922	0.0290	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35895	-0.9770	10	0.23302	T	0.38	.	8.4721	0.32991	0.3204:0.0:0.6796:0.0	.	482	Q9H306	MMP27_HUMAN	V	482	ENSP00000260229:A482V	ENSP00000260229:A482V	A	-	2	0	MMP27	102067804	0.000000	0.05858	0.013000	0.15412	0.063000	0.16089	-0.074000	0.11450	0.214000	0.20742	0.467000	0.42956	GCA	-	NULL		0.299	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	protein_coding	OTTHUMT00000398128.1	G	NM_022122		102067804	-1	no_errors	NM_022122	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
IGHD	3495	genome.wustl.edu	37	14	106307313	106307313	+	RNA	SNP	G	G	A	rs560469534	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:106307313G>A	ENST00000390556.2	-	0	724							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AGGTCCCCGCGTTCCACAAGG	0.677													G|||	2	0.000399361	0.0	0.0014	5008	,	,		10932	0.001		0.0	False		,,,				2504	0.0															0			14											18.0	22.0	21.0					14																	106307313		2132	4210	6342	105378358			0			K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106307313G>A			105378358	Q6P4I8|Q8WU38	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC,HMMPfam_ig	p.T242M	ENST00000390556.2	37	c.725		14																																																																																			-	superfamily_Immunoglobulin,HMMPfam_ig,HMMSmart_SM00407		0.677	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHD	IG_C_gene	OTTHUMT00000326652.1	G	NG_001019		105378358	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390556	ensembl	human	known	54_36p	missense	SNP	0.004	A
PIK3CG	5294	genome.wustl.edu	37	7	106509371	106509371	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:106509371G>A	ENST00000359195.3	+	2	1675	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K	PIK3CG_ENST00000440650.2_Silent_p.K455K|PIK3CG_ENST00000496166.1_Silent_p.K455K	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	455	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTGAGTCCAAGGGCAAAGTTC	0.537																																																0			7											74.0	76.0	76.0					7																	106509371		2203	4300	6503	106296607	SO:0001819	synonymous_variant	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1365G>A	7.37:g.106509371G>A			106296607	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	superfamily_Ubiquitin-like,HMMPfam_PI3K_rbd,HMMSmart_SM00144,HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2,superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.K455	ENST00000359195.3	37	c.1365	CCDS5739.1	7																																																																																			-	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2		0.537	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	protein_coding	OTTHUMT00000349294.1	G			106296607	+1	no_errors	NM_002649	genbank	human	reviewed	54_36p	silent	SNP	0.353	A
TRHR	7201	genome.wustl.edu	37	8	110131532	110131532	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:110131532A>T	ENST00000518632.1	+	3	1396	c.1045A>T	c.(1045-1047)Agt>Tgt	p.S349C	TRHR_ENST00000311762.2_Missense_Mutation_p.S349C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	349					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGCTAACTACAGTGTGGCCCT	0.468																																																0			8											151.0	144.0	146.0					8																	110131532		2203	4299	6502	110200708	SO:0001583	missense	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1045A>T	8.37:g.110131532A>T	ENSP00000430711:p.Ser349Cys		110200708	Q2M339	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S349C	ENST00000518632.1	37	c.1045	CCDS6311.1	8	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106787	0.77096	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.68624	-0.34;-0.34	5.86	4.7	0.59300	.	0.073777	0.85682	D	0.000000	T	0.70657	0.3249	M	0.64404	1.975	0.51233	D	0.999916	D	0.54964	0.969	P	0.51866	0.682	T	0.70557	-0.4839	10	0.45353	T	0.12	-2.6262	11.3532	0.49600	0.9292:0.0:0.0708:0.0	.	349	P34981	TRFR_HUMAN	C	349	ENSP00000430711:S349C;ENSP00000309818:S349C	ENSP00000309818:S349C	S	+	1	0	TRHR	110200708	1.000000	0.71417	0.976000	0.42696	0.906000	0.53458	5.928000	0.70088	1.041000	0.40125	0.477000	0.44152	AGT	-	superfamily_SSF81321		0.468	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	TRHR	protein_coding	OTTHUMT00000380892.1	A			110200708	+1	no_errors	NM_003301	genbank	human	provisional	54_36p	missense	SNP	1.000	T
SPAG17	200162	genome.wustl.edu	37	1	118516151	118516151	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:118516151G>T	ENST00000336338.5	-	44	6103	c.6038C>A	c.(6037-6039)aCc>aAc	p.T2013N	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2013						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAAGGACTGGGTTGGAATTTT	0.393																																																0			1											122.0	120.0	121.0					1																	118516151		2203	4300	6503	118317674	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6038C>A	1.37:g.118516151G>T	ENSP00000337804:p.Thr2013Asn		118317674	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.T2013N	ENST00000336338.5	37	c.6038	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438354	0.43326	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.23754	1.89	5.1	3.23	0.37069	.	0.936197	0.09067	N	0.853421	T	0.28267	0.0698	M	0.73598	2.24	0.25390	N	0.988538	D	0.61697	0.99	P	0.58454	0.839	T	0.10200	-1.0640	10	0.54805	T	0.06	.	7.4478	0.27221	0.1916:0.0:0.8084:0.0	.	2013	Q6Q759	SPG17_HUMAN	N	2013;493	ENSP00000337804:T2013N	ENSP00000337804:T2013N	T	-	2	0	SPAG17	118317674	1.000000	0.71417	0.942000	0.38095	0.267000	0.26476	2.564000	0.45931	0.733000	0.32492	0.561000	0.74099	ACC	-	NULL		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	protein_coding	OTTHUMT00000033723.1	G	NM_206996		118317674	-1	no_errors	NM_206996	genbank	human	validated	54_36p	missense	SNP	0.999	T
CABP1	9478	genome.wustl.edu	37	12	121093997	121093997	+	Intron	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr12:121093997G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000288616.3_Silent_p.Q49Q|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000453000.1_Silent_p.Q128Q	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCTGGCCCAGAACTGCGCAG	0.637																																																0			12											33.0	32.0	32.0					12																	121093997		2203	4300	6503	119578380	SO:0001627	intron_variant	9478			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3684G>A	12.37:g.121093997G>A			119578380	O95663|Q8N6H5|Q9NZU8	Silent	SNP	superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.Q49	ENST00000316803.3	37	c.147	CCDS31913.1	12																																																																																			-	NULL		0.637	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	protein_coding	OTTHUMT00000345822.1	G	NM_001033677		119578380	+1	no_errors	NM_031205	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
PTPRZ1	5803	genome.wustl.edu	37	7	121548789	121548789	+	Intron	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:121548789A>T	ENST00000393386.2	+	2	469				PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATAAGTACATTTCAGGCTA	0.274																																																0			7											42.0	47.0	45.0					7																	121548789		873	1989	2862	121336025	SO:0001627	intron_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.59-19421A>T	7.37:g.121548789A>T			121336025	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1	p.T6	ENST00000393386.2	37	c.18	CCDS34740.1	7																																																																																			-	NULL		0.274	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	A	NM_002851		121336025	+1	no_start_codon	ENST00000393385	ensembl	human	known	54_36p	silent	SNP	0.003	T
DTX3L	151636	genome.wustl.edu	37	3	122283302	122283302	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:122283302C>T	ENST00000296161.4	+	1	218	c.29C>T	c.(28-30)cCg>cTg	p.P10L	PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Missense_Mutation_p.P10L|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	10					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CCGCCGTCCCCGCTCCTCGTG	0.731																																																0			3											20.0	26.0	24.0					3																	122283302		2202	4299	6501	123765992	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.29C>T	3.37:g.122283302C>T	ENSP00000296161:p.Pro10Leu		123765992	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1	p.P10L	ENST00000296161.4	37	c.29	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285267	0.80803	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.50813	1.32;0.73	4.7	3.78	0.43462	.	0.167587	0.28796	N	0.014101	T	0.65863	0.2732	M	0.77313	2.365	0.35498	D	0.799524	D;D	0.89917	0.989;1.0	P;D	0.91635	0.579;0.999	T	0.75286	-0.3371	10	0.87932	D	0	-24.3335	9.9112	0.41406	0.0:0.7744:0.2256:0.0	.	10;10	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	L	10	ENSP00000296161:P10L;ENSP00000373157:P10L	ENSP00000296161:P10L	P	+	2	0	DTX3L	123765992	0.950000	0.32346	1.000000	0.80357	0.860000	0.49131	0.976000	0.29462	2.400000	0.81607	0.655000	0.94253	CCG	-	NULL		0.731	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	protein_coding	OTTHUMT00000355966.1	C	NM_138287		123765992	+1	no_errors	NM_138287	genbank	human	validated	54_36p	missense	SNP	1.000	T
ATAD2	29028	genome.wustl.edu	37	8	124348664	124348664	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:124348664C>G	ENST00000287394.5	-	22	3267	c.3160G>C	c.(3160-3162)Gat>Cat	p.D1054H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D372H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1054	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGATTAGATCAATATCTCTC	0.373																																																0			8											101.0	95.0	97.0					8																	124348664		2203	4300	6503	124417845	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3160G>C	8.37:g.124348664C>G	ENSP00000287394:p.Asp1054His		124417845	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	HMMPfam_YL1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain	p.D1054H	ENST00000287394.5	37	c.3160	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426915	0.83667	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.28666	1.6;1.6	5.89	5.89	0.94794	Bromodomain (6);	0.192457	0.53938	D	0.000051	T	0.53642	0.1809	L	0.54965	1.715	0.52501	D	0.999956	D	0.71674	0.998	D	0.71414	0.973	T	0.49370	-0.8947	10	0.62326	D	0.03	-27.2311	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1054	Q6PL18	ATAD2_HUMAN	H	1054;372	ENSP00000287394:D1054H;ENSP00000429213:D372H	ENSP00000287394:D1054H	D	-	1	0	ATAD2	124417845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.827000	0.69300	2.783000	0.95769	0.655000	0.94253	GAT	-	superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain		0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	protein_coding	OTTHUMT00000381766.2	C	NM_014109		124417845	-1	no_errors	NM_014109	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
GSDMC	56169	genome.wustl.edu	37	8	130760843	130760843	+	Silent	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:130760843C>T	ENST00000276708.4	-	14	2312	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	477						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGGGGTTATCCAGCTCCATCC	0.587																																																0			8											112.0	101.0	104.0					8																	130760843		2203	4300	6503	130830025	SO:0001819	synonymous_variant	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1431G>A	8.37:g.130760843C>T			130830025	Q5XKF3|Q6P494	Silent	SNP	HMMPfam_Gasdermin	p.L477	ENST00000276708.4	37	c.1431	CCDS6360.1	8																																																																																			-	HMMPfam_Gasdermin		0.587	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	protein_coding	OTTHUMT00000380586.1	C			130830025	-1	no_errors	NM_031415	genbank	human	validated	54_36p	silent	SNP	0.000	T
LAMC3	10319	genome.wustl.edu	37	9	133932336	133932336	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr9:133932336G>T	ENST00000361069.4	+	12	2093	c.1960G>T	c.(1960-1962)Gtc>Ttc	p.V654F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	654	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTGACTGAGGTCCGGCTCAC	0.602																																																0			9											68.0	72.0	71.0					9																	133932336		2203	4300	6503	132922157	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1960G>T	9.37:g.133932336G>T	ENSP00000354360:p.Val654Phe		132922157	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2	p.V654F	ENST00000361069.4	37	c.1960	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455811	0.43634	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.52754	0.65	4.95	4.95	0.65309	Laminin B type IV (2);	0.067211	0.64402	D	0.000013	T	0.70850	0.3271	M	0.80746	2.51	0.47698	D	0.999494	D	0.76494	0.999	D	0.75484	0.986	T	0.75889	-0.3158	10	0.72032	D	0.01	.	17.2687	0.87095	0.0:0.0:1.0:0.0	.	654	Q9Y6N6	LAMC3_HUMAN	F	654	ENSP00000354360:V654F	ENSP00000347156:V654F	V	+	1	0	LAMC3	132922157	1.000000	0.71417	0.843000	0.33291	0.020000	0.10135	7.118000	0.77137	2.316000	0.78162	0.650000	0.86243	GTC	-	HMMPfam_Laminin_B		0.602	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	protein_coding	OTTHUMT00000054717.3	G	NM_006059		132922157	+1	no_errors	NM_006059	genbank	human	reviewed	54_36p	missense	SNP	0.070	T
NCAPD3	23310	genome.wustl.edu	37	11	134046210	134046210	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:134046210G>A	ENST00000534548.2	-	24	3157	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1031					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTGGCAATGTCTGGGTGTG	0.433																																																0			11											109.0	105.0	106.0					11																	134046210		2201	4297	6498	133551420	SO:0001819	synonymous_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3093C>T	11.37:g.134046210G>A			133551420	A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,HMMPfam_HEAT	p.D1031	ENST00000534548.2	37	c.3093	CCDS31723.1	11																																																																																			-	superfamily_ARM-type_fold		0.433	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	protein_coding	OTTHUMT00000393575.2	G	NM_015261		133551420	-1	no_errors	NM_015261	genbank	human	validated	54_36p	silent	SNP	0.869	A
MATR3	9782	genome.wustl.edu	37	5	138643164	138643164	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:138643164C>G	ENST00000394805.3	+	2	395	c.60C>G	c.(58-60)gaC>gaG	p.D20E	MATR3_ENST00000503811.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.D20E|MATR3_ENST00000510056.1_Missense_Mutation_p.D20E|MATR3_ENST00000509990.1_Missense_Mutation_p.D20E|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.D20E|MATR3_ENST00000502929.1_Missense_Mutation_p.D20E	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	20					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGGGCGTGACCTGTCTGCGG	0.468																																																0			5											110.0	108.0	108.0					5																	138643164		2203	4300	6503	138671063	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.60C>G	5.37:g.138643164C>G	ENSP00000378284:p.Asp20Glu		138671063	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2,HMMSmart_RRM,superfamily_SSF54928	p.D20E	ENST00000394805.3	37	c.60	CCDS4210.1	5	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666641	0.47677	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000514694;ENST00000502929;ENST00000394800;ENST00000505016;ENST00000502394;ENST00000394805;ENST00000504045;ENST00000510056;ENST00000337359;ENST00000508689;ENST00000514488;ENST00000503340;ENST00000504023	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.82	5.82	0.92795	.	0.435517	0.26116	N	0.026243	T	0.71508	0.3348	N	0.08118	0	0.33138	D	0.54399	B;P;B	0.44690	0.0;0.841;0.0	B;P;B	0.58820	0.001;0.846;0.001	T	0.66941	-0.5796	10	0.06236	T	0.91	-7.8352	15.4225	0.75025	0.0:0.8622:0.1378:0.0	.	20;20;20	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	E	20	ENSP00000423533:D20E;ENSP00000354346:D20E;ENSP00000422233:D20E;ENSP00000422319:D20E;ENSP00000378279:D20E;ENSP00000424431:D20E;ENSP00000427168:D20E;ENSP00000378284:D20E;ENSP00000423290:D20E;ENSP00000426743:D20E;ENSP00000422137:D20E;ENSP00000426801:D20E;ENSP00000422590:D20E;ENSP00000421145:D20E	ENSP00000338208:D20E	D	+	3	2	MATR3	138671063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.571000	0.45990	2.765000	0.95021	0.591000	0.81541	GAC	-	NULL		0.468	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	protein_coding	OTTHUMT00000251324.2	C	NM_018834		138671063	+1	no_errors	NM_018834	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
A4GNT	51146	genome.wustl.edu	37	3	137849941	137849941	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:137849941A>T	ENST00000236709.3	-	2	359	c.158T>A	c.(157-159)gTg>gAg	p.V53E		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	53					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CTCTAGAAACACAATGCCACG	0.532																																																0			3											87.0	88.0	87.0					3																	137849941		2203	4300	6503	139332631	SO:0001583	missense	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.158T>A	3.37:g.137849941A>T	ENSP00000236709:p.Val53Glu		139332631	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	HMMPfam_Gly_transf_sug,HMMPfam_Gb3_synth	p.V53E	ENST00000236709.3	37	c.158	CCDS3097.1	3	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074747	0.76415	.	.	ENSG00000118017	ENST00000236709	T	0.79845	-1.31	5.42	5.42	0.78866	.	0.299988	0.23817	N	0.044270	T	0.81772	0.4893	L	0.60455	1.87	0.36832	D	0.88695	D	0.56035	0.974	P	0.47470	0.548	D	0.86518	0.1814	10	0.62326	D	0.03	-0.7187	15.4719	0.75446	1.0:0.0:0.0:0.0	.	53	Q9UNA3	A4GCT_HUMAN	E	53	ENSP00000236709:V53E	ENSP00000236709:V53E	V	-	2	0	A4GNT	139332631	0.998000	0.40836	1.000000	0.80357	0.890000	0.51754	6.414000	0.73318	2.044000	0.60594	0.459000	0.35465	GTG	-	NULL		0.532	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A4GNT	protein_coding	OTTHUMT00000357557.1	A	NM_016161		139332631	-1	no_errors	NM_016161	genbank	human	reviewed	54_36p	missense	SNP	0.965	T
DENND2A	27147	genome.wustl.edu	37	7	140267031	140267031	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:140267031T>A	ENST00000275884.6	-	8	2051	c.1634A>T	c.(1633-1635)cAg>cTg	p.Q545L	DENND2A_ENST00000492720.1_Missense_Mutation_p.Q545L|DENND2A_ENST00000496613.1_Missense_Mutation_p.Q545L|DENND2A_ENST00000537639.1_Missense_Mutation_p.Q545L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	545					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCGAGGCGCCTGCTTCAGCCG	0.567																																																0			7											36.0	38.0	37.0					7																	140267031		1923	4143	6066	139913500	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1634A>T	7.37:g.140267031T>A	ENSP00000275884:p.Gln545Leu		139913500	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801	p.Q545L	ENST00000275884.6	37	c.1634	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426241	0.62733	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.11063	3.51;3.51;3.51;2.81	5.86	4.69	0.59074	.	0.232431	0.37348	N	0.002128	T	0.06645	0.0170	N	0.14661	0.345	0.51767	D	0.999931	B;B	0.11235	0.004;0.0	B;B	0.16722	0.016;0.003	T	0.18903	-1.0322	10	0.59425	D	0.04	-20.6906	7.2999	0.26413	0.1276:0.069:0.0:0.8034	.	545;545	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	L	545	ENSP00000275884:Q545L;ENSP00000442245:Q545L;ENSP00000419654:Q545L;ENSP00000419464:Q545L	ENSP00000275884:Q545L	Q	-	2	0	DENND2A	139913500	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.667000	0.61561	2.241000	0.73720	0.533000	0.62120	CAG	-	NULL		0.567	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	protein_coding	OTTHUMT00000348742.1	T	NM_015689		139913500	-1	no_errors	NM_015689	genbank	human	validated	54_36p	missense	SNP	1.000	A
PCDHA10	56139	genome.wustl.edu	37	5	140236060	140236060	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:140236060G>C	ENST00000307360.5	+	1	427	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E143Q|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	143	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAATACCTGAATCCAGACT	0.488																																																0			5											125.0	130.0	128.0					5																	140236060		2197	4270	6467	140216244	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.427G>C	5.37:g.140236060G>C	ENSP00000304234:p.Glu143Gln		140216244	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.E143Q	ENST00000307360.5	37	c.427	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733746	0.69189	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.37584	1.19;1.19	4.34	4.34	0.51931	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.79650	0.4482	H	0.99924	4.96	0.28900	N	0.893309	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.927;0.998	T	0.81782	-0.0775	9	0.87932	D	0	.	16.4471	0.83937	0.0:0.0:1.0:0.0	.	143;143;143	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	Q	143	ENSP00000421030:E143Q;ENSP00000304234:E143Q	ENSP00000304234:E143Q	E	+	1	0	PCDHA10	140216244	1.000000	0.71417	0.895000	0.35142	0.962000	0.63368	6.432000	0.73400	2.434000	0.82447	0.556000	0.70494	GAA	-	superfamily_Cadherin-like,HMMPfam_Cadherin		0.488	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	protein_coding	OTTHUMT00000372895.2	G	NM_018901		140216244	+1	no_errors	NM_018901	genbank	human	reviewed	54_36p	missense	SNP	0.975	C
CTAGE4	100128553	genome.wustl.edu	37	7	143882509	143882509	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:143882509G>T	ENST00000486333.1	+	1	1951	c.1913G>T	c.(1912-1914)gGa>gTa	p.G638V		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	638						integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						AGACTGTCTGGACCAGCAGAA	0.398																																																0			7											1.0	1.0	1.0					7																	143882509		4	11	15	143513442	SO:0001583	missense	0			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 4"""	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.1913G>T	7.37:g.143882509G>T	ENSP00000419539:p.Gly638Val		143513442	A8K871|O95046	RNA	SNP	-	NULL	ENST00000486333.1	37	NULL	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	5.897	0.349540	0.11182	.	.	ENSG00000225932	ENST00000486333	T	0.38240	1.15	.	.	.	.	.	.	.	.	T	0.59197	0.2176	M	0.87456	2.885	0.22266	N	0.999249	D	0.89917	1.0	D	0.78314	0.991	T	0.45934	-0.9227	7	0.72032	D	0.01	.	.	.	.	.	638	Q8IX94	CTGE4_HUMAN	V	638	ENSP00000419539:G638V	ENSP00000419539:G638V	G	+	2	0	CTAGE4	143513442	1.000000	0.71417	0.020000	0.16555	0.021000	0.10359	0.554000	0.23407	0.172000	0.19760	0.175000	0.17021	GGA	-	-		0.398	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	protein_coding	OTTHUMT00000349970.1	G	NM_198495		143513442	+1	no_errors	XR_038147	genbank	human	model	54_36p	rna	SNP	0.967	T
CNTNAP2	26047	genome.wustl.edu	37	7	146829351	146829351	+	Silent	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:146829351T>C	ENST00000361727.3	+	8	1614	c.1098T>C	c.(1096-1098)ttT>ttC	p.F366F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	366	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTGAGCTTTTCTTGTGTGG	0.438										HNSCC(39;0.1)																																						0			7											113.0	114.0	113.0					7																	146829351		2203	4300	6503	146460284	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1098T>C	7.37:g.146829351T>C			146460284	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1,HMMSmart_SM00294	p.F366	ENST00000361727.3	37	c.1098	CCDS5889.1	7																																																																																			-	superfamily_Concanavalin A-like lectins/glucanases		0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	protein_coding	OTTHUMT00000327668.1	T			146460284	+1	no_errors	NM_014141	genbank	human	reviewed	54_36p	silent	SNP	0.984	C
JAKMIP2	9832	genome.wustl.edu	37	5	147023647	147023647	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:147023647G>C	ENST00000265272.5	-	7	1665	c.1198C>G	c.(1198-1200)Cag>Gag	p.Q400E	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q358E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q400E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	400						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGTTCTGTTGCTCAATG	0.393																																																0			5											142.0	130.0	134.0					5																	147023647		2203	4300	6503	147003840	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1198C>G	5.37:g.147023647G>C	ENSP00000265272:p.Gln400Glu		147003840	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.Q400E	ENST00000265272.5	37	c.1198	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018734	0.93404	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.27104	1.7;1.69;1.69	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.75615	2.305	0.80722	D	1	P;P;P;P	0.43578	0.811;0.811;0.811;0.811	P;P;P;P	0.54924	0.764;0.764;0.764;0.764	T	0.25363	-1.0134	10	0.36615	T	0.2	.	19.7462	0.96252	0.0:0.0:1.0:0.0	.	358;400;400;400	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	E	400;400;358;400	ENSP00000421398:Q400E;ENSP00000265272:Q400E;ENSP00000328989:Q358E	ENSP00000265272:Q400E	Q	-	1	0	JAKMIP2	147003840	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	9.405000	0.97313	2.736000	0.93811	0.655000	0.94253	CAG	-	NULL		0.393	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	protein_coding	OTTHUMT00000251941.1	G	NM_014790		147003840	-1	no_errors	NM_014790	genbank	human	provisional	54_36p	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	7	150447000	150447000	+	IGR	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:150447000C>A								GIMAP5 (5849 upstream) : TMEM176B (41372 downstream)																							AAGTTAAAACCCAAAATAAAT	0.348																																																0			7											143.0	114.0	123.0					7																	150447000		692	1591	2283	150077933	SO:0001628	intergenic_variant	0																															7.37:g.150447000C>A			150077933		Silent	SNP	HMMPfam_SNARE	p.T59		37	c.177		7																																																																																			-	HMMPfam_SNARE	0	0.348					LOC100128542			C			150077933	+1	no_errors	XM_001720451	genbank	human	model	54_36p	silent	SNP	0.897	A
IVL	3713	genome.wustl.edu	37	1	152883786	152883786	+	Missense_Mutation	SNP	C	C	G	rs149718823	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:152883786C>G	ENST00000368764.3	+	2	1577	c.1513C>G	c.(1513-1515)Cag>Gag	p.Q505E	IVL_ENST00000392667.2_Missense_Mutation_p.Q359E			P07476	INVO_HUMAN	involucrin	505	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcacctggaacagcaggaaaa	0.602													C|||	60	0.0119808	0.0	0.0836	5008	,	,		20126	0.0		0.002	False		,,,				2504	0.0															0			1						C	GLU/GLN	6,4388		0,6,2191	87.0	83.0	85.0		1513	-3.7	0.0	1	dbSNP_134	85	6,8566		0,6,4280	yes	missense	IVL	NM_005547.2	29	0,12,6471	GG,GC,CC		0.07,0.1365,0.0925	possibly-damaging	505/586	152883786	12,12954	2197	4286	6483	151150410	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1513C>G	1.37:g.152883786C>G	ENSP00000357753:p.Gln505Glu		151150410	Q5T7P4	Missense_Mutation	SNP	PatternScan_INVOLUCRIN,HMMPfam_Involucrin_N,HMMPfam_Involucrin	p.Q505E	ENST00000368764.3	37	c.1513	CCDS1030.1	1	28	0.01282051282051282	0	0.0	26	0.0718232044198895	0	0.0	2	0.002638522427440633	C	5.234	0.228630	0.09916	0.001365	7.0E-4	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.16073	2.86;2.37	3.39	-3.71	0.04424	.	.	.	.	.	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	B	0.25563	0.129	B	0.27262	0.078	T	0.45366	-0.9266	9	0.02654	T	1	.	9.8528	0.41068	0.0:0.3164:0.586:0.0976	.	505	P07476	INVO_HUMAN	E	505;359	ENSP00000357753:Q505E;ENSP00000376435:Q359E	ENSP00000357753:Q505E	Q	+	1	0	IVL	151150410	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.444000	0.07170	-0.300000	0.09419	CAG	-	HMMPfam_Involucrin		0.602	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	protein_coding	OTTHUMT00000034664.1	C	NM_005547		151150410	+1	no_errors	NM_005547	genbank	human	reviewed	54_36p	missense	SNP	0.299	G
LRBA	987	genome.wustl.edu	37	4	151242515	151242515	+	Silent	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:151242515T>A	ENST00000357115.3	-	51	7734	c.7491A>T	c.(7489-7491)ccA>ccT	p.P2497P	LRBA_ENST00000510413.1_Silent_p.P2486P|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Silent_p.P2486P|LRBA_ENST00000507224.1_Silent_p.P2486P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2497						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAACATCAATGGACTCTGCA	0.493																																																0			4											118.0	104.0	109.0					4																	151242515		2203	4300	6503	151461965	SO:0001819	synonymous_variant	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7491A>T	4.37:g.151242515T>A			151461965	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.P2497	ENST00000357115.3	37	c.7491	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	T	6.628	0.484324	0.12641	.	.	ENSG00000198589	ENST00000509835	.	.	.	6.07	-2.13	0.07144	.	.	.	.	.	T	0.51261	0.1664	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42832	-0.9428	4	.	.	.	.	7.419	0.27061	0.0:0.3506:0.2062:0.4432	.	.	.	.	L	1139	.	.	H	-	2	0	LRBA	151461965	0.068000	0.21057	0.929000	0.37066	0.999000	0.98932	-0.614000	0.05604	-0.560000	0.06102	0.533000	0.62120	CAT	-	superfamily_WD40 repeat-like		0.493	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	protein_coding	OTTHUMT00000364939.1	T			151461965	-1	no_errors	NM_006726	genbank	human	validated	54_36p	silent	SNP	0.986	A
MAB21L2	10586	genome.wustl.edu	37	4	151505207	151505207	+	Silent	SNP	C	C	A	rs562705013		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:151505207C>A	ENST00000317605.4	+	1	2131	c.1026C>A	c.(1024-1026)acC>acA	p.T342T	RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	342					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCAAGCAGACCTGGAGGTTGG	0.592																																																0			4											42.0	46.0	44.0					4																	151505207		2203	4300	6503	151724657	SO:0001819	synonymous_variant	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.1026C>A	4.37:g.151505207C>A			151724657	B3KP37|Q9HBA7	Silent	SNP	HMMPfam_Mab-21	p.T342	ENST00000317605.4	37	c.1026	CCDS3774.1	4																																																																																			-	HMMPfam_Mab-21		0.592	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	protein_coding	OTTHUMT00000364937.1	C	NM_006439		151724657	+1	no_errors	NM_006439	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
CCT8L1P	155100	genome.wustl.edu	37	7	152143475	152143475	+	IGR	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:152143475C>A								FABP5P3 (3203 upstream) : LINC01003 (17395 downstream)																							GAGACCCTCACACTGGCGGAC	0.547																																																0			7											236.0	209.0	218.0					7																	152143475		2203	4300	6503	151774408	SO:0001628	intergenic_variant	155100																															7.37:g.152143475C>A			151774408		Missense_Mutation	SNP	PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029	p.T305K		37	c.914		7																																																																																			-	superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029	0	0.547					CCT8L1			C			151774408	+1	no_errors	NM_001029866	genbank	human	inferred	54_36p	missense	SNP	0.000	A
NEB	4703	genome.wustl.edu	37	2	152553150	152553150	+	Splice_Site	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:152553150C>T	ENST00000172853.10	-	17	1717		c.e17+1		NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGAACTTACGTCACTCAGT	0.383																																																0			2											200.0	191.0	194.0					2																	152553150		1895	4106	6001	152261396	SO:0001630	splice_region_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1569+1G>A	2.37:g.152553150C>T			152261396	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	-	e15+1	ENST00000172853.10	37	c.1569+1		2	.	.	.	.	.	.	.	.	.	.	.	25.8	4.675602	0.88445	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.128	0.89592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152261396	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.726000	0.74758	2.811000	0.96726	0.557000	0.71058	.	-	-		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	Intron	152261396	-1	no_errors	NM_004543	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
RUSC1	23623	genome.wustl.edu	37	1	155290860	155290860	+	Intron	SNP	A	A	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:155290860A>C	ENST00000368352.5	+	1	65				RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAGCAGGAGAAATGAATAGAG	0.642																																																0			1											70.0	88.0	82.0					1																	155290860		2086	4199	6285	153557484	SO:0001627	intron_variant	284618			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-87+78A>C	1.37:g.155290860A>C			153557484	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	NULL	p.I140M	ENST00000368352.5	37	c.420	CCDS41410.1	1																																																																																			-	NULL		0.642	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf104	protein_coding	OTTHUMT00000039071.1	A			153557484	-1	no_errors	NM_001039517	genbank	human	predicted	54_36p	missense	SNP	0.001	C
GRIA2	2891	genome.wustl.edu	37	4	158224934	158224934	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:158224934A>C	ENST00000264426.9	+	3	739	c.460A>C	c.(460-462)Agt>Cgt	p.S154R	GRIA2_ENST00000449365.1_Missense_Mutation_p.S107R|GRIA2_ENST00000393815.2_Missense_Mutation_p.S107R|GRIA2_ENST00000296526.7_Missense_Mutation_p.S154R|GRIA2_ENST00000507898.1_Missense_Mutation_p.S107R	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	154					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCTCTATGACAGTGACAGAGG	0.418																																																0			4											147.0	131.0	136.0					4																	158224934		2203	4300	6503	158444384	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.460A>C	4.37:g.158224934A>C	ENSP00000264426:p.Ser154Arg		158444384	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.S154R	ENST00000264426.9	37	c.460	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838439	0.91117	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365;ENST00000503437	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.041675	0.85682	D	0.000000	T	0.48926	0.1527	M	0.62723	1.935	0.80722	D	1	P;P;D	0.89917	0.682;0.881;1.0	P;P;D	0.91635	0.578;0.592;0.999	T	0.40646	-0.9552	9	.	.	.	.	15.8173	0.78612	1.0:0.0:0.0:0.0	.	154;154;107	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	R	107;107;154;154;107;107;27	ENSP00000426845:S107R;ENSP00000377403:S107R;ENSP00000296526:S154R;ENSP00000264426:S154R;ENSP00000422038:S107R;ENSP00000389837:S107R;ENSP00000426784:S27R	.	S	+	1	0	GRIA2	158444384	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.478000	0.81082	2.210000	0.71456	0.528000	0.53228	AGT	-	superfamily_SSF53822,HMMPfam_ANF_receptor		0.418	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	protein_coding	OTTHUMT00000258367.2	A			158444384	+1	no_errors	NM_000826	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CD244	51744	genome.wustl.edu	37	1	160808240	160808240	+	Splice_Site	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:160808240C>T	ENST00000368033.3	-	5	932		c.e5+1		CD244_ENST00000368034.4_Splice_Site|CD244_ENST00000322302.7_Splice_Site|CD244_ENST00000481677.1_Splice_Site|CD244_ENST00000368032.2_Splice_Site			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGATGACATACGTGATTTCTC	0.463																																																0			1											154.0	157.0	156.0					1																	160808240		2203	4300	6503	159074864	SO:0001630	splice_region_variant	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.849+1G>A	1.37:g.160808240C>T			159074864	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Splice_Site	SNP	-	e5+1	ENST00000368033.3	37	c.834+1	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901894	0.17760	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	.	.	.	4.61	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.30715	N	0.748824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4996	0.44798	0.0:0.7933:0.2067:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD244	159074864	0.922000	0.31269	0.016000	0.15963	0.006000	0.05464	1.046000	0.30354	1.250000	0.43966	0.655000	0.94253	.	-	-		0.463	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	protein_coding	OTTHUMT00000071469.1	C	NM_016382	Intron	159074864	-1	no_errors	NM_016382	genbank	human	validated	54_36p	splice_site	SNP	0.002	T
RXRG	6258	genome.wustl.edu	37	1	165376074	165376074	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:165376074G>T	ENST00000359842.5	-	9	1521	c.1219C>A	c.(1219-1221)Cag>Aag	p.Q407K		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	407	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GGATACTTCTGCTTGGTGTAG	0.527																																																0			1											202.0	156.0	172.0					1																	165376074		2203	4300	6503	163642698	SO:0001583	missense	6258			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1219C>A	1.37:g.165376074G>T	ENSP00000352900:p.Gln407Lys		163642698	A6NIP1|Q6IBU7	Missense_Mutation	SNP	HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep	p.Q407K	ENST00000359842.5	37	c.1219	CCDS1248.1	1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394743	0.62066	.	.	ENSG00000143171	ENST00000359842	D	0.96168	-3.93	4.24	4.24	0.50183	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.125947	0.53938	D	0.000042	D	0.89842	0.6832	L	0.31926	0.97	0.42695	D	0.993595	P	0.38280	0.625	B	0.40741	0.339	D	0.89498	0.3762	9	0.30078	T	0.28	.	15.7167	0.77672	0.0:0.0:1.0:0.0	.	407	P48443	RXRG_HUMAN	K	407	ENSP00000352900:Q407K	ENSP00000352900:Q407K	Q	-	1	0	RXRG	163642698	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.336000	0.96533	2.332000	0.79248	0.563000	0.77884	CAG	-	superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep		0.527	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	protein_coding	OTTHUMT00000083794.2	G	NM_006917		163642698	-1	no_errors	NM_006917	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168105327	168105327	+	Silent	SNP	G	G	C	rs575664263		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:168105327G>C	ENST00000409195.1	+	9	7514	c.7425G>C	c.(7423-7425)acG>acC	p.T2475T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T2475T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T2253T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGAACACACGGAGACAAAGC	0.398																																																0			2											80.0	78.0	78.0					2																	168105327		1922	4136	6058	167813573	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7425G>C	2.37:g.168105327G>C			167813573	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	HMMPfam_Xin	p.T2475	ENST00000409195.1	37	c.7425	CCDS42769.1	2																																																																																			-	NULL		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	G	NM_152381		167813573	+1	no_errors	NM_152381	genbank	human	validated	54_36p	silent	SNP	0.000	C
Unknown	0	genome.wustl.edu	37	1	171052707	171052707	+	IGR	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:171052707G>A								MROH9 (18801 upstream) : FMO3 (7310 downstream)																							CTGAAGAGGAGAGGCTTGTTG	0.488																																																0			1																																								169319331	SO:0001628	intergenic_variant	646804																															1.37:g.171052707G>A			169319331		Silent	SNP	PatternScan_RIBOSOMAL_L23	p.E25		37	c.75		1																																																																																			-	NULL	0	0.488					LOC646804			G			169319331	+1	no_errors	XM_929761	genbank	human	model	54_36p	silent	SNP	0.998	A
RC3H1	149041	genome.wustl.edu	37	1	173941647	173941647	+	Splice_Site	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:173941647C>T	ENST00000367696.2	-	8	1572	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	RC3H1_ENST00000367694.2_Splice_Site_p.Q407Q|RC3H1_ENST00000258349.4_Splice_Site_p.Q407Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	407					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTTCCTTACCTGCTGCTGAT	0.438																																																0			1											218.0	164.0	182.0					1																	173941647		2203	4300	6503	172208270	SO:0001630	splice_region_variant	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1221+1G>A	1.37:g.173941647C>T			172208270	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH	p.Q407	ENST00000367696.2	37	c.1221	CCDS30940.1	1																																																																																			-	NULL		0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	protein_coding	OTTHUMT00000090733.2	C	NM_172071	Silent	172208270	-1	no_errors	NM_172071	genbank	human	validated	54_36p	silent	SNP	1.000	T
ECT2	1894	genome.wustl.edu	37	3	172502554	172502554	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:172502554C>G	ENST00000392692.3	+	17	1962	c.1786C>G	c.(1786-1788)Cca>Gca	p.P596A	ECT2_ENST00000417960.1_Missense_Mutation_p.P564A|ECT2_ENST00000441497.2_Missense_Mutation_p.P565A|ECT2_ENST00000540509.1_Missense_Mutation_p.P596A|ECT2_ENST00000232458.5_Missense_Mutation_p.P565A|ECT2_ENST00000427830.1_Missense_Mutation_p.P565A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	596	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCTTATCCGACCAGTACAGAG	0.338																																																0			3											176.0	169.0	172.0					3																	172502554		2203	4300	6503	173985248	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1786C>G	3.37:g.172502554C>G	ENSP00000376457:p.Pro596Ala		173985248	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like	p.P565A	ENST00000392692.3	37	c.1693	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932234	0.92389	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.78	5.78	0.91487	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	H	0.95816	3.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92970	0.6397	10	0.87932	D	0	-14.4194	19.6059	0.95582	0.0:1.0:0.0:0.0	.	596;41;596;565;564	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	A	565;596;565;564;565;596	ENSP00000232458:P565A;ENSP00000376457:P596A;ENSP00000401910:P565A;ENSP00000415876:P564A;ENSP00000412259:P565A;ENSP00000443160:P596A	ENSP00000232458:P565A	P	+	1	0	ECT2	173985248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.067000	0.76741	2.738000	0.93877	0.591000	0.81541	CCA	-	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1		0.338	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	protein_coding	OTTHUMT00000345994.2	C	NM_018098		173985248	+1	no_errors	NM_018098	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179439161	179439161	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:179439161G>A	ENST00000591111.1	-	276	66999	c.66775C>T	c.(66775-66777)Cgg>Tgg	p.R22259W	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15027W|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14960W|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14835W|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21332W|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R23900W			Q8WZ42	TITIN_HUMAN	titin	22259	Fibronectin type-III 61. {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)			GCAATCACCCGGAACTCATAA	0.453																																																0			2											221.0	219.0	219.0					2																	179439161		1921	4127	6048	179147407	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66775C>T	2.37:g.179439161G>A	ENSP00000465570:p.Arg22259Trp		179147407	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	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.R19881W	ENST00000591111.1	37	c.59641		2	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613447	0.28712	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.53	5.53	0.82687	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85864	0.5796	H	0.98833	4.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91256	0.5033	9	0.87932	D	0	.	15.816	0.78599	0.0:0.0:0.8636:0.1364	.	14835;14960;15027;22259	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	21332;14835;15027;14960;14833	ENSP00000343764:R21332W;ENSP00000434586:R14835W;ENSP00000340554:R15027W;ENSP00000352154:R14960W	ENSP00000340554:R15027W	R	-	1	2	TTN	179147407	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.625000	0.74248	2.613000	0.88420	0.455000	0.32223	CGG	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179147407	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179458950	179458950	+	Silent	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:179458950G>T	ENST00000591111.1	-	247	53471	c.53247C>A	c.(53245-53247)ctC>ctA	p.L17749L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.L10517L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.L10450L|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.L10325L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L16822L|TTN_ENST00000589042.1_Silent_p.L19390L			Q8WZ42	TITIN_HUMAN	titin	17749	Ig-like 104.				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)	p.L16820L(1)|p.L10325L(1)|p.L10517L(1)		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)			CTCTGAAGTCGAGGTGAAGCG	0.403																																																3	Substitution - coding silent(3)	large_intestine(3)	2											61.0	58.0	59.0					2																	179458950		1886	4113	5999	179167196	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53247C>A	2.37:g.179458950G>T			179167196	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	superfamily_Ypt/Rab-GAP domain of gyp1p,PatternScan_RCC1_2,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24	p.S16822*	ENST00000591111.1	37	c.50465		2																																																																																			-	superfamily_Ypt/Rab-GAP domain of gyp1p		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179167196	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_133378	genbank	human	reviewed	54_36p	nonsense	SNP	0.404	T
DHX9	1660	genome.wustl.edu	37	1	182812483	182812483	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:182812483G>C	ENST00000367549.3	+	3	276	c.166G>C	c.(166-168)Gat>Cat	p.D56H		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	56	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAATAAAAAAGATGCACAAAG	0.358																																					Colon(69;210 1162 3697 13559 39565)											0			1											93.0	89.0	90.0					1																	182812483		1816	4072	5888	181079106	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.166G>C	1.37:g.182812483G>C	ENSP00000356520:p.Asp56His		181079106	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00487,HMMPfam_DEAD,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605	p.D56H	ENST00000367549.3	37	c.166	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712580	0.89112	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.77877	-1.13	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93031	0.6448	10	0.87932	D	0	.	18.8105	0.92056	0.0:0.0:1.0:0.0	.	56	Q08211	DHX9_HUMAN	H	56	ENSP00000356520:D56H	ENSP00000356520:D56H	D	+	1	0	DHX9	181079106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.951000	0.93025	2.805000	0.96524	0.655000	0.94253	GAT	-	superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358		0.358	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	protein_coding	OTTHUMT00000085522.2	G	NM_030588		181079106	+1	no_errors	NM_001357	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MSTN	2660	genome.wustl.edu	37	2	190926978	190926978	+	Silent	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:190926978C>A	ENST00000260950.4	-	1	477	c.345G>T	c.(343-345)acG>acT	p.T115T	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	115					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGATTGTTTCCGTTGTAGCGT	0.433																																																0			2											136.0	124.0	128.0					2																	190926978		2203	4299	6502	190635223	SO:0001819	synonymous_variant	2660			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.345G>T	2.37:g.190926978C>A			190635223	A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	HMMPfam_TGFb_propeptide,PatternScan_EF_HAND_1,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1	p.T115	ENST00000260950.4	37	c.345	CCDS2303.1	2																																																																																			-	HMMPfam_TGFb_propeptide		0.433	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	protein_coding	OTTHUMT00000255917.2	C	NM_005259		190635223	-1	no_errors	NM_005259	genbank	human	reviewed	54_36p	silent	SNP	0.999	A
LAD1	3898	genome.wustl.edu	37	1	201351400	201351400	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:201351400C>T	ENST00000391967.2	-	9	1829	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	LAD1_ENST00000488842.1_5'Flank|LAD1_ENST00000367313.3_Missense_Mutation_p.D524N	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	510						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGCGAGGAGTCAGATTTCTGT	0.602																																																0			1											200.0	160.0	174.0					1																	201351400		2203	4300	6503	199618023	SO:0001583	missense	3898			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1528G>A	1.37:g.201351400C>T	ENSP00000375829:p.Asp510Asn		199618023	O95614|Q96GD8	Missense_Mutation	SNP	NULL	p.D510N	ENST00000391967.2	37	c.1528	CCDS1410.1	1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996561	0.35226	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.46063	0.88;2.71;2.69	4.12	0.0569	0.14321	.	1.843090	0.02822	N	0.125693	T	0.34803	0.0910	L	0.44542	1.39	0.09310	N	1	P	0.36535	0.557	B	0.36845	0.234	T	0.24297	-1.0164	10	0.54805	T	0.06	-5.6779	2.8282	0.05491	0.2019:0.4643:0.0:0.3338	.	510	O00515	LAD1_HUMAN	N	161;510;524	ENSP00000422687:D161N;ENSP00000375829:D510N;ENSP00000356282:D524N	ENSP00000356282:D524N	D	-	1	0	LAD1	199618023	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.016000	0.13377	0.136000	0.18733	-0.258000	0.10820	GAC	-	NULL		0.602	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	protein_coding	OTTHUMT00000086946.1	C	NM_005558		199618023	-1	no_errors	NM_005558	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
C2orf47	79568	genome.wustl.edu	37	2	200820552	200820552	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:200820552T>A	ENST00000392290.1	+	1	227	c.31T>A	c.(31-33)Ttc>Atc	p.F11I	TYW5_ENST00000354611.4_5'Flank|C2orf47_ENST00000295079.2_Missense_Mutation_p.F11I|TYW5_ENST00000452512.2_5'Flank|C2orf69_ENST00000491721.1_3'UTR			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	11						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GCTACCCCAGTTCCTGCACTC	0.642																																																0			2											37.0	44.0	42.0					2																	200820552		2202	4300	6502	200528797	SO:0001583	missense	79568			BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.31T>A	2.37:g.200820552T>A	ENSP00000376111:p.Phe11Ile		200528797	Q658V9|Q9H671	Missense_Mutation	SNP	NULL	p.F11I	ENST00000392290.1	37	c.31	CCDS2329.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.59|13.59	2.281667|2.281667	0.40394|0.40394	.|.	.|.	ENSG00000162972|ENSG00000162972	ENST00000295079;ENST00000392290|ENST00000435773	T;T|.	0.41065|.	1.01;1.01|.	5.55|5.55	2.96|2.96	0.34315|0.34315	.|.	1.085030|.	0.07054|.	N|.	0.832499|.	T|T	0.15609|0.15609	0.0376|0.0376	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.17038|.	0.02|.	B|.	0.15484|.	0.013|.	T|T	0.22452|0.22452	-1.0216|-1.0216	10|5	0.29301|.	T|.	0.29|.	2.1727|2.1727	3.7337|3.7337	0.08503|0.08503	0.0:0.2578:0.1868:0.5554|0.0:0.2578:0.1868:0.5554	.|.	11|.	Q8WWC4|.	CB047_HUMAN|.	I|R	11|3	ENSP00000295079:F11I;ENSP00000376111:F11I|.	ENSP00000295079:F11I|.	F|S	+|+	1|3	0|2	C2orf47|C2orf47	200528797|200528797	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.321000|0.321000	0.19558|0.19558	0.428000|0.428000	0.26173|0.26173	0.482000|0.482000	0.46254|0.46254	TTC|AGT	-	NULL		0.642	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf47	protein_coding	OTTHUMT00000256146.1	T	NM_024520		200528797	+1	no_errors	NM_024520	genbank	human	predicted	54_36p	missense	SNP	0.000	A
RCOR3	55758	genome.wustl.edu	37	1	211486186	211486186	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:211486186G>A	ENST00000367005.4	+	10	1167	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	RCOR3_ENST00000452621.2_Silent_p.Q400Q|RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000419091.2_Silent_p.Q400Q|RCOR3_ENST00000367006.4_Intron	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AGGTATTGCAGGAGTGGGAAG	0.448																																																0			1											123.0	122.0	122.0					1																	211486186		2203	4300	6503	209552809	SO:0001819	synonymous_variant	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.1026G>A	1.37:g.211486186G>A			209552809	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	HMMPfam_ELM2,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding	p.Q342	ENST00000367005.4	37	c.1026	CCDS31016.1	1																																																																																			-	NULL		0.448	RCOR3-001	KNOWN	basic|CCDS	protein_coding	RCOR3	protein_coding	OTTHUMT00000089821.1	G	NM_018254		209552809	+1	no_errors	NM_018254	genbank	human	validated	54_36p	silent	SNP	1.000	A
USP37	57695	genome.wustl.edu	37	2	219330749	219330749	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:219330749T>G	ENST00000258399.3	-	21	2862	c.2450A>C	c.(2449-2451)cAg>cCg	p.Q817P	USP37_ENST00000418019.1_Missense_Mutation_p.Q817P|USP37_ENST00000415516.1_Missense_Mutation_p.Q723P|USP37_ENST00000454775.1_Missense_Mutation_p.Q817P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	817	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGAAGGCTCTGAGCCAGTGC	0.403																																																0			2											160.0	154.0	156.0					2																	219330749		2203	4300	6503	219038993	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2450A>C	2.37:g.219330749T>G	ENSP00000258399:p.Gln817Pro		219038993	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,HMMSmart_SM00726,HMMPfam_UIM,PatternScan_UCH_2_2	p.Q817P	ENST00000258399.3	37	c.2450	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557187	0.45590	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.51325	0.72;0.72;0.71;0.72	5.22	5.22	0.72569	Ubiquitin interacting motif (3);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.991;0.999	T	0.51545	-0.8692	10	0.27082	T	0.32	-8.0519	15.284	0.73814	0.0:0.0:0.0:1.0	.	723;817	Q86T82-2;Q86T82	.;UBP37_HUMAN	P	817;817;723;817	ENSP00000258399:Q817P;ENSP00000393662:Q817P;ENSP00000400902:Q723P;ENSP00000396585:Q817P	ENSP00000258399:Q817P	Q	-	2	0	USP37	219038993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.201000	0.70794	0.533000	0.62120	CAG	-	superfamily_Cysteine proteinases,HMMPfam_UCH,HMMPfam_UIM,HMMSmart_SM00726		0.403	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	protein_coding	OTTHUMT00000256779.3	T	NM_020935		219038993	-1	no_errors	NM_020935	genbank	human	validated	54_36p	missense	SNP	1.000	G
PTPRN	5798	genome.wustl.edu	37	2	220164466	220164466	+	Silent	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:220164466C>A	ENST00000295718.2	-	10	1719	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	PTPRN_ENST00000423636.2_Silent_p.L403L|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Intron	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	493					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CATGCTCAGCCAGGATCTCCA	0.567																																																0			2											71.0	66.0	67.0					2																	220164466		2203	4300	6503	219872710	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1479G>T	2.37:g.220164466C>A			219872710	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.L493	ENST00000295718.2	37	c.1479	CCDS2440.1	2																																																																																			-	NULL		0.567	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	protein_coding	OTTHUMT00000256819.2	C			219872710	-1	no_errors	NM_002846	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
WDR26	80232	genome.wustl.edu	37	1	224607296	224607296	+	Silent	SNP	T	T	G	rs142827296	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:224607296T>G	ENST00000414423.2	-	5	979	c.786A>C	c.(784-786)gcA>gcC	p.A262A	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Silent_p.A115A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	262						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTAGGTCTTCTGCATGGCTAC	0.353																																																0			1											126.0	112.0	117.0					1																	224607296		2203	4300	6503	222673919	SO:0001819	synonymous_variant	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.786A>C	1.37:g.224607296T>G			222673919	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	HMMSmart_SM00668,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.A115	ENST00000414423.2	37	c.345	CCDS31037.2	1																																																																																			-	NULL		0.353	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	protein_coding	OTTHUMT00000091760.2	T	NM_025160		222673919	-1	no_errors	NM_025160	genbank	human	reviewed	54_36p	silent	SNP	0.989	G
MRPL44	65080	genome.wustl.edu	37	2	224824488	224824488	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:224824488G>C	ENST00000258383.3	+	2	486	c.417G>C	c.(415-417)caG>caC	p.Q139H		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	139	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCCTTACACAGTTTCTTGAAG	0.413																																																0			2											76.0	80.0	79.0					2																	224824488		2203	4300	6503	224532732	SO:0001583	missense	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.417G>C	2.37:g.224824488G>C	ENSP00000258383:p.Gln139His		224532732	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	PatternScan_RNASE_3_1,superfamily_RNase_III,HMMSmart_RIBOc,HMMPfam_Ribonuclease_3,superfamily_SSF54768	p.Q139H	ENST00000258383.3	37	c.417	CCDS2459.1	2	.	.	.	.	.	.	.	.	.	.	G	9.950	1.219923	0.22373	.	.	ENSG00000135900	ENST00000258383	T	0.42513	0.97	5.7	-8.97	0.00758	Ribonuclease III (3);	0.276150	0.40818	N	0.001017	T	0.33411	0.0862	L	0.57536	1.79	0.20074	N	0.999934	B	0.24576	0.106	B	0.25140	0.058	T	0.04495	-1.0947	10	0.62326	D	0.03	-1.4104	15.2137	0.73247	0.6696:0.0:0.3304:0.0	.	139	Q9H9J2	RM44_HUMAN	H	139	ENSP00000258383:Q139H	ENSP00000258383:Q139H	Q	+	3	2	MRPL44	224532732	0.005000	0.15991	0.040000	0.18447	0.071000	0.16799	-0.497000	0.06428	-2.339000	0.00626	-1.154000	0.01816	CAG	-	superfamily_RNase_III,HMMSmart_RIBOc,HMMPfam_Ribonuclease_3		0.413	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL44	protein_coding	OTTHUMT00000256866.2	G	NM_022915		224532732	+1	no_errors	NM_022915	genbank	human	reviewed	54_36p	missense	SNP	0.962	C
TTC13	79573	genome.wustl.edu	37	1	231093991	231093991	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:231093991C>T	ENST00000366661.4	-	3	428	c.421G>A	c.(421-423)Gac>Aac	p.D141N	TTC13_ENST00000414259.1_Missense_Mutation_p.D141N|TTC13_ENST00000366662.4_Missense_Mutation_p.D141N	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	141										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTTGTGCTGTCATTATCAGTG	0.378																																																0			1											130.0	121.0	124.0					1																	231093991		2203	4300	6503	229160614	SO:0001583	missense	79573				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.421G>A	1.37:g.231093991C>T	ENSP00000355621:p.Asp141Asn		229160614	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2	p.D141N	ENST00000366661.4	37	c.421	CCDS1588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.10|18.10	3.548623|3.548623	0.65311|0.65311	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259|ENST00000522821	T;T;T|.	0.54071|.	0.87;0.61;0.59|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.270197|.	0.43416|.	D|.	0.000562|.	T|T	0.56262|0.56262	0.1973|0.1973	N|N	0.24115|0.24115	0.695|0.695	0.46901|0.46901	D|D	0.999248|0.999248	P;P;B|.	0.38504|.	0.501;0.634;0.363|.	B;B;B|.	0.34242|.	0.086;0.178;0.086|.	T|T	0.48445|0.48445	-0.9035|-0.9035	10|5	0.16896|.	T|.	0.51|.	3.0903|3.0903	19.1646|19.1646	0.93551|0.93551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	141;141;141|.	E9PGV4;Q8NBP0-2;Q8NBP0|.	.;.;TTC13_HUMAN|.	N|I	141|129	ENSP00000355621:D141N;ENSP00000355622:D141N;ENSP00000416631:D141N|.	ENSP00000355621:D141N|.	D|M	-|-	1|3	0|0	TTC13|TTC13	229160614|229160614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.423000|3.423000	0.52756|0.52756	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAC|ATG	-	NULL		0.378	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	protein_coding	OTTHUMT00000092229.2	C	NM_024525		229160614	-1	no_errors	NM_024525	genbank	human	validated	54_36p	missense	SNP	1.000	T
EGLN1	54583	genome.wustl.edu	37	1	231556889	231556889	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:231556889T>A	ENST00000366641.3	-	1	3901	c.746A>T	c.(745-747)aAg>aTg	p.K249M	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TCGGATGTCCTTGGACGAGTC	0.622																																																0			1											83.0	75.0	77.0					1																	231556889		2203	4300	6503	229623512	SO:0001583	missense	54583			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.746A>T	1.37:g.231556889T>A	ENSP00000355601:p.Lys249Met		229623512		Missense_Mutation	SNP	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy	p.K249M	ENST00000366641.3	37	c.746	CCDS1595.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.668469|4.668469	0.88348|0.88348	.|.	.|.	ENSG00000135766|ENSG00000135766	ENST00000366641|ENST00000546322	T|.	0.23552|.	1.9|.	4.94|4.94	3.81|3.81	0.43845|0.43845	Prolyl 4-hydroxylase, alpha subunit (1);|.	0.055446|.	0.64402|.	D|.	0.000002|.	T|T	0.62514|0.62514	0.2434|0.2434	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999996|0.999996	P|.	0.37985|.	0.613|.	P|.	0.50490|.	0.642|.	T|T	0.63075|0.63075	-0.6718|-0.6718	10|6	0.87932|0.87932	D|D	0|0	-7.7508|-7.7508	7.4194|7.4194	0.27063|0.27063	0.0:0.2406:0.0:0.7594|0.0:0.2406:0.0:0.7594	.|.	249|.	Q9GZT9|.	EGLN1_HUMAN|.	M|W	249|48	ENSP00000355601:K249M|.	ENSP00000355601:K249M|ENSP00000439757:R48W	K|R	-|-	2|1	0|2	EGLN1|EGLN1	229623512|229623512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.089000|3.089000	0.50183|0.50183	0.818000|0.818000	0.34468|0.34468	0.460000|0.460000	0.39030|0.39030	AAG|AGG	-	HMMSmart_SM00702		0.622	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGLN1	protein_coding	OTTHUMT00000092879.1	T	NM_022051		229623512	-1	no_errors	NM_022051	genbank	human	provisional	54_36p	missense	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238305437	238305437	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:238305437G>A	ENST00000295550.4	-	2	476	c.24C>T	c.(22-24)ccC>ccT	p.P8P	COL6A3_ENST00000346358.4_Silent_p.P8P|COL6A3_ENST00000472056.1_Silent_p.P8P|COL6A3_ENST00000347401.3_Silent_p.P8P|COL6A3_ENST00000409809.1_Silent_p.P8P|COL6A3_ENST00000353578.4_Silent_p.P8P|COL6A3_ENST00000392004.3_Silent_p.P8P|COL6A3_ENST00000392003.2_Silent_p.P8P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	8					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCCACTAAGGGCAAGTGCC	0.433																																																0			2											111.0	112.0	112.0					2																	238305437		2203	4300	6503	237970176	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.24C>T	2.37:g.238305437G>A			237970176	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1	p.P8	ENST00000295550.4	37	c.24	CCDS33412.1	2																																																																																			-	NULL		0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	G	NM_004369		237970176	-1	no_errors	NM_004369	genbank	human	reviewed	54_36p	silent	SNP	0.210	A
ANO7	50636	genome.wustl.edu	37	2	242135122	242135122	+	Silent	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:242135122C>T	ENST00000274979.8	+	4	436	c.333C>T	c.(331-333)gaC>gaT	p.D111D	ANO7_ENST00000402530.3_Splice_Site_p.D110D|ANO7_ENST00000402430.3_Splice_Site_p.D110D	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	111					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCCCAGCAGACTTCGTCCTCG	0.642																																																0			2											50.0	44.0	46.0					2																	242135122		2203	4300	6503	241783795	SO:0001819	synonymous_variant	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.333C>T	2.37:g.242135122C>T			241783795	Q6IWH6	Silent	SNP	HMMPfam_DUF590	p.D111	ENST00000274979.8	37	c.333	CCDS33423.1	2																																																																																			-	NULL		0.642	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	C	NM_001001891		241783795	+1	no_errors	NM_001001891	genbank	human	validated	54_36p	silent	SNP	0.999	T
AHCTF1	25909	genome.wustl.edu	37	1	247006065	247006065	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:247006065T>G	ENST00000391829.2	-	35	6662	c.6539A>C	c.(6538-6540)cAa>cCa	p.Q2180P	AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Q2189P|AHCTF1_ENST00000366508.1_Missense_Mutation_p.Q2215P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2180	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTACTGATTGTGCATCATC	0.348																																					Colon(145;197 1800 4745 15099 26333)											0			1											220.0	201.0	207.0					1																	247006065		2203	4300	6503	245072688	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6539A>C	1.37:g.247006065T>G	ENSP00000375705:p.Gln2180Pro		245072688	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook	p.Q2180P	ENST00000391829.2	37	c.6539		1	.	.	.	.	.	.	.	.	.	.	T	3.006	-0.205033	0.06180	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.31247	1.5;1.5;1.5	4.92	2.51	0.30379	.	0.387259	0.24508	N	0.037919	T	0.17619	0.0423	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.17440	-1.0369	10	0.33141	T	0.24	-4.3533	6.7279	0.23367	0.1519:0.0:0.1592:0.6888	.	2215;2180	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	P	2215;2189;2180	ENSP00000355464:Q2215P;ENSP00000355465:Q2189P;ENSP00000375705:Q2180P	ENSP00000355465:Q2189P	Q	-	2	0	AHCTF1	245072688	0.272000	0.24172	0.021000	0.16686	0.033000	0.12548	1.246000	0.32803	0.280000	0.22209	0.482000	0.46254	CAA	-	NULL		0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	protein_coding		T	NM_015446		245072688	-1	no_errors	NM_015446	genbank	human	validated	54_36p	missense	SNP	0.002	G
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	INS	-	-	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	-	-					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chrUnknown:0_0insT								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								13550	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0_0insT			13549		Frame_Shift_Ins	INS	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.N404fs		37	c.1212_1213		MT																																																																																			-	NULL	0	0					MT-ND5			-			13550	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	frame_shift_ins	INS	NULL	T
Unknown	0	genome.wustl.edu	37	4	27839	27849	+	IGR	DEL	GGCTGAATGTG	GGCTGAATGTG	-			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	GGCTGAATGTG	GGCTGAATGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:27839_27849delGGCTGAATGTG								None (None upstream) : Z95704.4 (21141 downstream)																							TTTGATGTCAGGCTGAATGTGGGCTTCTGAG	0.479																																																0			4																																								17849	SO:0001628	intergenic_variant	0																															4.37:g.27839_27849delGGCTGAATGTG			17839		Frame_Shift_Del	DEL	NULL	p.H5fs		37	c.23_13		4																																																																																			(deletion:cds_exon[17604,17861])	NULL	0	0.479					LOC100133718			GGCTGAATGTG			17849	-1	no_start_codon:pseudogene:no_stop_codon	XM_001713866	genbank	human	model	54_36p	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
TSPAN9	10867	genome.wustl.edu	37	12	3357786	3357793	+	Intron	DEL	GGGAGGTG	GGGAGGTG	-	rs200584144|rs397843071|rs4045149|rs140604579	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	GGGAGGTG	GGGAGGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr12:3357786_3357793delGGGAGGTG	ENST00000011898.5	+	4	224				TSPAN9_ENST00000537971.1_Intron|TSPAN9_ENST00000407263.1_Intron	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9							focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			cagtgagcctgggaggtggaatagatca	0.375														2294	0.458067	0.0696	0.5735	5008	,	,		20001	0.4762		0.5865	False		,,,				2504	0.7505															0			12																																								3228054	SO:0001627	intron_variant	647546			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.64-29794GGGAGGTG>-	12.37:g.3357786_3357793delGGGAGGTG			3228047	D3DUQ7|Q53FV2|Q6FGJ8	Frame_Shift_Del	DEL	NULL	p.H1798fs	ENST00000011898.5	37	c.5399_5392	CCDS8520.1	12																																																																																			(deletion:cds_exon[3225102,3228278])	NULL		0.375	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC647546	protein_coding	OTTHUMT00000317606.2	GGGAGGTG	NM_006675		3228054	-1	no_start_codon:pseudogene:no_stop_codon	XM_936601	genbank	human	model	54_36p	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
ZNF384	171017	genome.wustl.edu	37	12	6777070	6777072	+	In_Frame_Del	DEL	TGC	TGC	-	rs78573212|rs72393318|rs544124628|rs3835029	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	TGC	TGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr12:6777070_6777072delTGC	ENST00000396801.3	-	11	1749_1751	c.1542_1544delGCA	c.(1540-1545)cagcaa>caa	p.514_515QQ>Q	RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000355772.4_In_Frame_Del_p.398_399QQ>Q|ZNF384_ENST00000396799.2_In_Frame_Del_p.453_454QQ>Q|ZNF384_ENST00000396795.1_In_Frame_Del_p.453_454QQ>Q|ZNF384_ENST00000361959.3_In_Frame_Del_p.514_515QQ>Q|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000319770.3_In_Frame_Del_p.437_438QQ>Q	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	514	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.L139delL(6)|p.Q455delQ(3)|p.Q516delQ(3)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGGTGgctgttgctgctgctgct	0.665			T	"""EWSR1, TAF15 """	ALL									4006	0.79992	0.8253	0.8501	5008	,	,		14338	0.8125		0.7753	False		,,,				2504	0.7423						Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	12	Deletion - In frame(12)	breast(12)	12																																								6647333	SO:0001651	inframe_deletion	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1542_1544delGCA	12.37:g.6777079_6777081delTGC	ENSP00000380019:p.Gln516del		6647331	O15407|Q7Z722|Q8N938	In_Frame_Del	DEL	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Q455in_frame_del	ENST00000396801.3	37	c.1361_1359	CCDS44817.1	12																																																																																			(deletion:cds_exon[6647141,6647542])	NULL		0.665	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	protein_coding	OTTHUMT00000400712.1	TGC			6647333	-1	no_errors	NM_001039916	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:0.995	-
Unknown	0	genome.wustl.edu	37	12	9481042	9481043	+	IGR	DEL	GT	GT	-	rs570895341|rs112318363		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	GT	GT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr12:9481042_9481043delGT								SNORA75 (41624 upstream) : RP13-735L24.1 (39016 downstream)																							gtgctggggagtgttgaaattt	0.455																																																0			12																																								9372310	SO:0001628	intergenic_variant	0																															12.37:g.9481044_9481045delGT			9372309		Frame_Shift_Del	DEL	NULL	p.L136fs		37	c.406_405		12																																																																																			(deletion:cds_exon[9372204,9372372])	NULL	0	0.455					LOC100133762			GT			9372310	-1	pseudogene:no_stop_codon	XM_001716848	genbank	human	model	54_36p	frame_shift_del	DEL	0.000:0.000	-
Unknown	0	genome.wustl.edu	37	8	12404579	12404583	+	IGR	DEL	GGTCG	GGTCG	-	rs9773643|rs57197240		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	GGTCG	GGTCG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:12404579_12404583delGGTCG								AC130352.1 (20229 upstream) : AC068587.2 (30930 downstream)																							aggccaaggcggtcggatcatgaca	0.551																																																0			8																																								12448954	SO:0001628	intergenic_variant	100131718																															8.37:g.12404579_12404583delGGTCG			12448950		RNA	DEL	-	NULL		37	NULL		8																																																																																			(deletion:rna[12448333,12448991])	-	0	0.551					LOC100131718			GGTCG			12448954	+1	pseudogene	XR_038665	genbank	human	model	54_36p	rna	DEL	0.000:0.000:0.000:0.000:0.000	-
CHN2	1124	genome.wustl.edu	37	7	29437980	29438002	+	Splice_Site	DEL	TACCTTCAGGTTTCATGGGATCA	TACCTTCAGGTTTCATGGGATCA	-	rs576269534		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	TACCTTCAGGTTTCATGGGATCA	TACCTTCAGGTTTCATGGGATCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:29437980_29438002delTACCTTCAGGTTTCATGGGATCA	ENST00000222792.6	+	5	706_720	c.176_190delTACCTTCAGGTTTCATGGGATCA	c.(175-192)gtaccttcaggtttcatg>gtg	p.PSGFM60fs	CHN2_ENST00000539389.1_Intron|CHN2_ENST00000495789.2_Splice_Site_p.PSGFM73fs|CHN2_ENST00000539406.1_Splice_Site_p.PSGFM135fs|CHN2_ENST00000435288.2_Splice_Site_p.PSGFM60fs|CHN2_ENST00000546235.1_Splice_Site_p.PSGFM45fs	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	60	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GATGGTCTTGTACCTTCAGGTTTCATGGGATCATCTCTCGGGA	0.534																																					Ovarian(1;44 48 13232 18918 31480)											0			7																																								29404527	SO:0001630	splice_region_variant	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.177-1TACCTTCAGGTTTCATGGGATCA>-	7.37:g.29437980_29438002delTACCTTCAGGTTTCATGGGATCA			29404505	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Splice_Site	DEL	-	e5-1	ENST00000222792.6	37	c.177-9_177-1	CCDS5420.1	7																																																																																			(deletion:intron[29399852,29404513], cds_exon[29404514,29404627])	-		0.534	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	protein_coding	OTTHUMT00000214228.2	TACCTTCAGGTTTCATGGGATCA	NM_004067	Frame_Shift_Del	29404527	+1	no_errors	NM_004067	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.001:0.000:0.033:0.007:0.008:0.082:0.630:0.998:1.000:1.000:1.000:1.000:0.989:1.000:0.997:0.619:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
RYR3	6263	genome.wustl.edu	37	15	33941389	33941390	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	CA	CA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr15:33941389_33941390delCA	ENST00000389232.4	+	31	4165_4166	c.4095_4096delCA	c.(4093-4098)tgcacafs	p.T1366fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.T1366fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1366	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATAAAAACTGCACAGTGACTGT	0.54																																																0			15																																								31728682	SO:0001589	frameshift_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4095_4096delCA	15.37:g.33941391_33941392delCA	ENSP00000373884:p.Thr1366fs		31728681	O15175|Q15412	Frame_Shift_Del	DEL	HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans	p.T1366fs	ENST00000389232.4	37	c.4095_4096	CCDS45210.1	15																																																																																			(deletion:cds_exon[31728565,31728728])	HMMPfam_SPRY,HMMSmart_SM00449		0.540	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	CA			31728682	+1	no_errors	NM_001036	genbank	human	validated	54_36p	frame_shift_del	DEL	0.982:0.997	-
PIGU	128869	genome.wustl.edu	37	20	33233073	33233083	+	Splice_Site	DEL	ACTTACCATAA	ACTTACCATAA	-			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	ACTTACCATAA	ACTTACCATAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr20:33233073_33233083delACTTACCATAA	ENST00000452740.2	-	3	250_255	c.251_256delTTATGGTAAGT	c.(250-258)tttatggta>tta	p.FMV84fs	PIGU_ENST00000374820.2_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	84					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						atGGAAGGTTACTTACCATAAACACCAATTC	0.27																																																0			20																																								32696744	SO:0001630	splice_region_variant	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000452740.2:c.255+1TTATGGTAAGT>-	20.37:g.33233073_33233083delACTTACCATAA			32696734	Q7Z489|Q8N2F2	Splice_Site	DEL	-	e4-1	ENST00000452740.2	37	c.255+6_255+1		20																																																																																			(deletion:intron[32695692,32696739], cds_exon[32696740,32696799])	-		0.270	PIGU-202	KNOWN	basic	protein_coding	PIGU	protein_coding		ACTTACCATAA	NM_080476	Frame_Shift_Del	32696744	-1	no_errors	NM_080476	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
MITF	4286	genome.wustl.edu	37	3	70014172	70014180	+	In_Frame_Del	DEL	GATGGCACC	GATGGCACC	-	rs147954797		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	GATGGCACC	GATGGCACC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:70014172_70014180delGATGGCACC	ENST00000448226.2	+	10	1481_1489	c.1354_1362delGATGGCACC	c.(1354-1362)gatggcaccdel	p.DGT452del	MITF_ENST00000394351.3_In_Frame_Del_p.DGT345del|MITF_ENST00000314557.6_In_Frame_Del_p.DGT339del|MITF_ENST00000352241.4_In_Frame_Del_p.DGT446del|MITF_ENST00000314589.5_In_Frame_Del_p.DGT430del|MITF_ENST00000394355.2_In_Frame_Del_p.DGT421del|MITF_ENST00000328528.6_In_Frame_Del_p.DGT445del|MITF_ENST00000472437.1_In_Frame_Del_p.DGT394del|MITF_ENST00000531774.1_In_Frame_Del_p.DGT283del			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	452					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CGATCTCACGGATGGCACCATCACCTTCA	0.502			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0			3																																								70096870	SO:0001651	inframe_deletion	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1354_1362delGATGGCACC	3.37:g.70014172_70014180delGATGGCACC	ENSP00000391803:p.Asp452_Thr454del		70096862	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	In_Frame_Del	DEL	superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH	p.DGT446in_frame_del	ENST00000448226.2	37	c.1336_1344		3																																																																																			(deletion:cds_exon[70096688,70097089])	NULL		0.502	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	MITF	protein_coding	OTTHUMT00000313947.1	GATGGCACC	NM_198159		70096870	+1	no_errors	NM_198159	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:0.990:1.000:1.000:0.998:1.000:1.000:1.000	-
EXOC7	23265	genome.wustl.edu	37	17	74087597	74087599	+	Intron	DEL	AGG	AGG	-	rs143404477	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	AGG	AGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:74087597_74087599delAGG	ENST00000335146.7	-	7	862				EXOC7_ENST00000589210.1_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000405575.4_Intron|EXOC7_ENST00000607838.1_Intron|EXOC7_ENST00000332065.5_Intron			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AAGATCCACCAGGAGAAGTCAAA	0.507														176	0.0351438	0.0038	0.0259	5008	,	,		19540	0.0625		0.0457	False		,,,				2504	0.045															0			17																																								71599194	SO:0001627	intron_variant	0			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.809-281CCT>-	17.37:g.74087597_74087599delAGG			71599192	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	In_Frame_Del	DEL	NULL	p.G80in_frame_del	ENST00000335146.7	37	c.237_239	CCDS45782.1	17																																																																																			(deletion:cds_exon[71598956,71599486])	NULL		0.507	EXOC7-006	KNOWN	basic|CCDS	protein_coding	LOC100131436	protein_coding	OTTHUMT00000319768.2	AGG	NM_015219		71599194	+1	no_errors	XM_001720272	genbank	human	model	54_36p	in_frame_del	DEL	0.000:0.000:0.001	-
SLC15A1	6564	genome.wustl.edu	37	13	99358478	99358502	+	Frame_Shift_Del	DEL	GTTTCCTTTGGGGAAGACTGGAAGA	GTTTCCTTTGGGGAAGACTGGAAGA	-	rs8187836	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	GTTTCCTTTGGGGAAGACTGGAAGA	GTTTCCTTTGGGGAAGACTGGAAGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr13:99358478_99358502delGTTTCCTTTGGGGAAGACTGGAAGA	ENST00000376503.5	-	16	1210_1234	c.1155_1179delTCTTCCAGTCTTCCCCAAAGGAAAC	c.(1153-1179)actcttccagtcttccccaaaggaaacfs	p.TLPVFPKGN385fs		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	385					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTGGACTTCGTTTCCTTTGGGGAAGACTGGAAGAGTTTTCTGAG	0.404																																																0			13																																								98156503	SO:0001589	frameshift_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1155_1179delTCTTCCAGTCTTCCCCAAAGGAAAC	13.37:g.99358478_99358502delGTTTCCTTTGGGGAAGACTGGAAGA	ENSP00000365686:p.Thr385fs		98156479	Q5VW82	Frame_Shift_Del	DEL	superfamily_MFS general substrate transporter,PatternScan_PTR2_1,HMMPfam_PTR2,PatternScan_PTR2_2	p.L386fs	ENST00000376503.5	37	c.1179_1155	CCDS9489.1	13																																																																																			(deletion:cds_exon[98156389,98156508])	superfamily_MFS general substrate transporter,HMMPfam_PTR2		0.404	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	protein_coding	OTTHUMT00000045560.3	GTTTCCTTTGGGGAAGACTGGAAGA	NM_005073		98156503	-1	no_errors	NM_005073	genbank	human	validated	54_36p	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.160:0.984:0.999:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
SLC25A43	203427	genome.wustl.edu	37	X	118585964	118585989	+	Splice_Site	DEL	CCTGTCAGGCTCAGAGCCCCTACCTC	CCTGTCAGGCTCAGAGCCCCTACCTC	-			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	CCTGTCAGGCTCAGAGCCCCTACCTC	CCTGTCAGGCTCAGAGCCCCTACCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chrX:118585964_118585989delCCTGTCAGGCTCAGAGCCCCTACCTC	ENST00000217909.7	+	4	1034_1052	c.690_708delCCTGTCAGGCTCAGAGCCCCTACCTC	c.(688-708)cacctgtcaggctcagagccc>ca	p.HLSGSEP230fs	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Splice_Site_p.PVRLRAP173fs	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	230					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						GCTTCTGTTTCCTGTCAGGCTCAGAGCCCCTACCTCCCACACAGTG	0.531																																																0			X																																								118470017	SO:0001630	splice_region_variant	203427			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.691-1CCTGTCAGGCTCAGAGCCCCTACCTC>-	X.37:g.118585964_118585989delCCTGTCAGGCTCAGAGCCCCTACCTC			118469992	O75854|Q8N9L5	Splice_Site	DEL	-	e4-1	ENST00000217909.7	37	c.691-8_691-1	CCDS14577.1	X																																																																																			(deletion:intron[118428354,118469999], cds_exon[118470000,118470134])	-		0.531	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A43	protein_coding	OTTHUMT00000058028.1	CCTGTCAGGCTCAGAGCCCCTACCTC	NM_145305	Frame_Shift_Del	118470017	+1	no_errors	NM_145305	genbank	human	provisional	54_36p	splice_site_del	DEL	0.007:0.003:0.003:0.012:0.461:0.960:1.000:1.000:1.000:1.000:0.995:1.000:1.000:0.999:1.000:0.998:0.520:0.496:0.232:0.015:0.018:0.018:0.024:0.845:0.909:0.888	-
PTPRZ1	5803	genome.wustl.edu	37	7	121513382	121513383	+	5'UTR	INS	-	-	CA	rs35113798|rs386360108|rs3069073|rs4988976|rs370737965	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:121513382_121513383insCA	ENST00000393386.2	+	0	240_241				PTPRZ1_ENST00000449182.1_5'Flank	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						tctctctctctcacacacacac	0.49														1511	0.301717	0.3374	0.2464	5008	,	,		12284	0.2679		0.2753	False		,,,				2504	0.3548															0			7																																								121300619	SO:0001623	5_prime_UTR_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.-171->CA	7.37:g.121513391_121513392dupCA			121300618	A4D0W5|C9JFM0|O76043|Q9UDR6	Frame_Shift_Ins	INS	superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.T37fs	ENST00000393386.2	37	c.99_100	CCDS34740.1	7																																																																																			-	NULL		0.490	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	-	NM_002851		121300619	+1	no_start_codon	ENST00000265220	ensembl	human	known	54_36p	frame_shift_ins	INS	0.000:0.000	CA
CHML	1122	genome.wustl.edu	37	1	241797449	241797459	+	Frame_Shift_Del	DEL	CTCGTTTATTT	CTCGTTTATTT	-	rs576100300|rs556621444		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	CTCGTTTATTT	CTCGTTTATTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:241797449_241797459delCTCGTTTATTT	ENST00000366553.1	-	1	1773_1783	c.1610_1620delAAATAAACGAG	c.(1609-1620)gaaataaacgagfs	p.EINE537fs	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	537					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TAAGTTCTTCCTCGTTTATTTCTGTTTCAGT	0.389																																																0			1																																								239864082	SO:0001589	frameshift_variant	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1610_1620delAAATAAACGAG	1.37:g.241797449_241797459delCTCGTTTATTT	ENSP00000355511:p.Glu537fs		239864072	B2RAB9|Q17RE0|Q9H1Y4	Frame_Shift_Del	DEL	superfamily_FAD/NAD(P)-binding domain,HMMPfam_GDI,superfamily_FAD-linked reductases C-terminal domain	p.E537fs	ENST00000366553.1	37	c.1620_1610	CCDS31073.1	1																																																																																			(deletion:cds_exon[239863721,239865691])	superfamily_FAD/NAD(P)-binding domain,HMMPfam_GDI,superfamily_FAD-linked reductases C-terminal domain		0.389	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	protein_coding	OTTHUMT00000095712.1	CTCGTTTATTT	NM_001821		239864082	-1	no_errors	NM_001821	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.061:0.040:0.000:0.000:0.000:0.000:0.000:0.000:0.007:0.023:0.048	-
