#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
DIP2C	22982	genome.wustl.edu	37	10	375384	375384	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr10:375384C>T	ENST00000280886.6	-	30	3829	c.3742G>A	c.(3742-3744)Gag>Aag	p.E1248K		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1248						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTGAGGGACTCTGTTTGCGAG	0.552																																																0			10											43.0	38.0	39.0					10																	375384		2203	4300	6503	365384	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3742G>A	10.37:g.375384C>T	ENSP00000280886:p.Glu1248Lys		365384	B4DPI5|Q5SS78	Missense_Mutation	SNP	PatternScan_AMP_BINDING,HMMPfam_DMAP_binding,superfamily_SSF56801,HMMPfam_AMP-binding	p.E1248K	ENST00000280886.6	37	c.3742	CCDS7054.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.27|16.27	3.074634|3.074634	0.55646|0.55646	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000280886;ENST00000535541;ENST00000381503|ENST00000434695	T|.	0.40756|.	1.02|.	5.85|5.85	5.85|5.85	0.93711|0.93711	AMP-dependent synthetase/ligase (1);|.	0.098864|.	0.64402|.	D|.	0.000001|.	T|T	0.67988|0.67988	0.2952|0.2952	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	B|.	0.20780|.	0.048|.	B|.	0.29440|.	0.102|.	T|T	0.61579|0.61579	-0.7034|-0.7034	10|5	0.07325|.	T|.	0.83|.	-35.3164|-35.3164	20.1577|20.1577	0.98120|0.98120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1248|.	Q9Y2E4|.	DIP2C_HUMAN|.	K|K	1248;173;97|53	ENSP00000280886:E1248K|.	ENSP00000280886:E1248K|.	E|R	-|-	1|2	0|0	DIP2C|DIP2C	365384|365384	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.585000|0.585000	0.36419|0.36419	7.800000|7.800000	0.85949|0.85949	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAG|AGA	-	superfamily_SSF56801,HMMPfam_AMP-binding		0.552	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	protein_coding	OTTHUMT00000046389.1	C	NM_014974		365384	-1	no_errors	NM_014974	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
MAPK8IP3	23162	genome.wustl.edu	37	16	1817725	1817725	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr16:1817725G>A	ENST00000250894.4	+	27	3552	c.3395G>A	c.(3394-3396)aGc>aAc	p.S1132N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S1126N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1132					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCTACGTCAGCAAGATGCTA	0.627																																																0			16											29.0	33.0	31.0					16																	1817725		2102	4256	6358	1757726	SO:0001583	missense	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3395G>A	16.37:g.1817725G>A	ENSP00000250894:p.Ser1132Asn		1757726	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	HMMPfam_Jnk-SapK_ap_N,superfamily_WD40 repeat-like	p.S1132N	ENST00000250894.4	37	c.3395	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120783	0.56613	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.31769	1.48;1.48	3.52	2.52	0.30459	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.991	D;D;D	0.80764	0.96;0.994;0.985	T	0.52019	-0.8631	10	0.87932	D	0	-23.3186	11.5262	0.50582	0.0:0.0:0.8194:0.1806	.	1133;1126;1132	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	N	1132;1126	ENSP00000250894:S1132N;ENSP00000348290:S1126N	ENSP00000250894:S1132N	S	+	2	0	MAPK8IP3	1757726	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	9.035000	0.93752	0.651000	0.30788	0.561000	0.74099	AGC	-	NULL		0.627	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	protein_coding	OTTHUMT00000250508.2	G	NM_001040439		1757726	+1	no_errors	NM_015133	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MYOM2	9172	genome.wustl.edu	37	8	2000286	2000286	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr8:2000286A>G	ENST00000262113.4	+	3	259	c.118A>G	c.(118-120)Acc>Gcc	p.T40A	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	40					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCGAGCTTCCACCCAGGCATC	0.537																																																0			8											220.0	195.0	203.0					8																	2000286		2203	4300	6503	1987693	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.118A>G	8.37:g.2000286A>G	ENSP00000262113:p.Thr40Ala		1987693	Q7Z3Y2	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_ig,HMMSmart_IGc2	p.T40A	ENST00000262113.4	37	c.118	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	A	8.017	0.758730	0.15846	.	.	ENSG00000036448	ENST00000262113	T	0.40225	1.04	4.71	-6.29	0.02013	.	1.527510	0.04186	N	0.327415	T	0.19644	0.0472	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29488	-1.0010	10	0.02654	T	1	.	4.1134	0.10070	0.2715:0.0:0.3353:0.3932	.	40	P54296	MYOM2_HUMAN	A	40	ENSP00000262113:T40A	ENSP00000262113:T40A	T	+	1	0	MYOM2	1987693	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.695000	0.25527	-0.930000	0.03752	-0.250000	0.11733	ACC	-	NULL		0.537	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	protein_coding	OTTHUMT00000251249.1	A	NM_003970		1987693	+1	no_errors	NM_003970	genbank	human	validated	54_36p	missense	SNP	0.000	G
AVP	551	genome.wustl.edu	37	20	3065243	3065243	+	Silent	SNP	C	C	T	rs537943771		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr20:3065243C>T	ENST00000380293.3	-	1	127	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	26			P -> L (in NDI; weakly active). {ECO:0000269|PubMed:10369876}.		cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		TGCCGCCCCTCGGGCAGTTCT	0.652																																																0			20											118.0	110.0	113.0					20																	3065243		2203	4300	6503	3013243	SO:0001819	synonymous_variant	551			M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"""Endogenous ligands"""	894	protein-coding gene	gene with protein product	"""antidiuretic hormone"", ""neurophysin II"", ""diabetes insipidus"", ""neurohypophyseal"", ""prepro-AVP-NP II"", ""prepro-arginine-vasopressin-neurophysin II"""	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.78G>A	20.37:g.3065243C>T			3013243	A0AV35|O14935	Silent	SNP	HMMPfam_Hormone_4,PatternScan_NEUROHYPOPHYS_HORM,superfamily_Neurhyp_horm,HMMPfam_Hormone_5,HMMSmart_NH	p.P26	ENST00000380293.3	37	c.78	CCDS13045.1	20																																																																																			-	HMMPfam_Hormone_4,PatternScan_NEUROHYPOPHYS_HORM		0.652	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVP	protein_coding	OTTHUMT00000077713.2	C	NM_000490		3013243	-1	no_errors	NM_000490	genbank	human	reviewed	54_36p	silent	SNP	0.942	T
ARSF	416	genome.wustl.edu	37	X	3007646	3007646	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chrX:3007646A>C	ENST00000381127.1	+	7	1161	c.940A>C	c.(940-942)Aat>Cat	p.N314H	ARSF_ENST00000537104.1_Missense_Mutation_p.N314H|ARSF_ENST00000359361.2_Missense_Mutation_p.N314H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	314					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTATGGGGATAATGTGGAAGA	0.488																																																0			X											141.0	112.0	122.0					X																	3007646		2203	4300	6503	3017646	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.940A>C	X.37:g.3007646A>C	ENSP00000370519:p.Asn314His		3017646	Q8TCC5	Missense_Mutation	SNP	superfamily_Alkaline phosphatase-like,HMMPfam_Sulfatase,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2	p.N314H	ENST00000381127.1	37	c.940	CCDS14123.1	X	.	.	.	.	.	.	.	.	.	.	A	9.119	1.008610	0.19199	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98531	-4.98;-4.98;-4.98	3.0	0.129	0.14739	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.109910	0.64402	N	0.000014	D	0.97464	0.9170	M	0.88640	2.97	0.23943	N	0.996394	B	0.22480	0.07	B	0.39590	0.304	D	0.90678	0.4603	10	0.16420	T	0.52	.	5.4054	0.16318	0.6483:0.1775:0.0:0.1742	.	314	P54793	ARSF_HUMAN	H	314	ENSP00000370519:N314H;ENSP00000445594:N314H;ENSP00000352319:N314H	ENSP00000352319:N314H	N	+	1	0	ARSF	3017646	0.025000	0.19082	0.001000	0.08648	0.054000	0.15201	1.548000	0.36201	0.186000	0.20125	0.438000	0.28831	AAT	-	superfamily_Alkaline phosphatase-like,HMMPfam_Sulfatase		0.488	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	protein_coding	OTTHUMT00000055652.1	A			3017646	+1	no_errors	NM_004042	genbank	human	reviewed	54_36p	missense	SNP	0.978	C
WRAP73	49856	genome.wustl.edu	37	1	3550064	3550064	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:3550064C>A	ENST00000270708.7	-	9	893	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L	WRAP73_ENST00000378322.3_Missense_Mutation_p.V274L	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	274						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TCCTTATACACCACCTGAAAG	0.652																																																0			1											20.0	21.0	20.0					1																	3550064		2187	4280	6467	3539924	SO:0001583	missense	49856			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.820G>T	1.37:g.3550064C>A	ENSP00000270708:p.Val274Leu		3539924	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase,HMMSmart_SM00320,HMMPfam_WD40	p.V274L	ENST00000270708.7	37	c.820	CCDS48.1	1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496615	0.44352	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.59224	0.7;0.7;0.28	4.68	4.68	0.58851	WD40 repeat-like-containing domain (1);	0.118364	0.56097	D	0.000023	T	0.63498	0.2516	M	0.79805	2.47	0.51482	D	0.999921	B;P	0.41673	0.43;0.759	B;B	0.43950	0.107;0.437	T	0.65829	-0.6073	10	0.35671	T	0.21	-16.898	13.4812	0.61336	0.0:1.0:0.0:0.0	.	274;229	Q9P2S5;Q5T0D5	WRP73_HUMAN;.	L	274;274;229	ENSP00000270708:V274L;ENSP00000367573:V274L;ENSP00000416192:V229L	ENSP00000270708:V274L	V	-	1	0	WRAP73	3539924	1.000000	0.71417	0.998000	0.56505	0.554000	0.35429	4.621000	0.61233	2.310000	0.77875	0.650000	0.86243	GTG	-	superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase		0.652	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR8	protein_coding	OTTHUMT00000001470.1	C			3539924	-1	no_errors	NM_017818	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
IRX1	79192	genome.wustl.edu	37	5	3599675	3599675	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr5:3599675C>A	ENST00000302006.3	+	2	665	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	205					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGATGGAGCGCTCTTCGGCAG	0.632																																																0			5											75.0	66.0	69.0					5																	3599675		2203	4300	6503	3652675	SO:0001583	missense	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.613C>A	5.37:g.3599675C>A	ENSP00000305244:p.Leu205Ile		3652675	Q7Z2F8|Q8N312	Missense_Mutation	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMSmart_IRO	p.L205I	ENST00000302006.3	37	c.613	CCDS34132.1	5	.	.	.	.	.	.	.	.	.	.	C	0.633	-0.816552	0.02776	.	.	ENSG00000170549	ENST00000302006	T	0.58060	0.36	4.65	3.75	0.43078	.	0.569824	0.16638	N	0.205771	T	0.24699	0.0599	N	0.01267	-0.92	0.32815	D	0.50203	B	0.11235	0.004	B	0.13407	0.009	T	0.18871	-1.0323	10	0.35671	T	0.21	.	11.475	0.50293	0.4606:0.5394:0.0:0.0	.	205	P78414	IRX1_HUMAN	I	205	ENSP00000305244:L205I	ENSP00000305244:L205I	L	+	1	0	IRX1	3652675	0.062000	0.20869	0.996000	0.52242	0.381000	0.30169	0.192000	0.17096	0.870000	0.35726	0.609000	0.83330	CTC	-	NULL		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	protein_coding	OTTHUMT00000365546.1	C	NM_024337		3652675	+1	no_errors	NM_024337	genbank	human	validated	54_36p	missense	SNP	0.662	A
NOL9	79707	genome.wustl.edu	37	1	6589100	6589100	+	Silent	SNP	C	C	A	rs183060003		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:6589100C>A	ENST00000377705.5	-	10	1811	c.1779G>T	c.(1777-1779)ggG>ggT	p.G593G		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	593					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGATGGGCCCATTCGTGT	0.493																																																0			1											122.0	107.0	112.0					1																	6589100		2203	4300	6503	6511687	SO:0001819	synonymous_variant	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1779G>T	1.37:g.6589100C>A			6511687	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP	HMMPfam_NUC156	p.G593	ENST00000377705.5	37	c.1779	CCDS80.1	1																																																																																			-	HMMPfam_NUC156		0.493	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	protein_coding	OTTHUMT00000002625.1	C	NM_024654		6511687	-1	no_errors	NM_024654	genbank	human	validated	54_36p	silent	SNP	0.825	A
ACRBP	84519	genome.wustl.edu	37	12	6753370	6753370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:6753370G>A	ENST00000229243.2	-	5	970	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000536350.1_Nonsense_Mutation_p.Q293*|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.Q260*	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TCTATTTCCTGGGCTGATCGA	0.438																																																0			12											99.0	101.0	101.0					12																	6753370		2203	4300	6503	6623631	SO:0001587	stop_gained	84519			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.877C>T	12.37:g.6753370G>A	ENSP00000229243:p.Gln293*		6623631		Nonsense_Mutation	SNP	HMMPfam_PBP_sp32,superfamily_SSF100895,HMMSmart_KAZAL	p.Q293*	ENST00000229243.2	37	c.877	CCDS8554.1	12	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364157	0.41902	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	.	.	.	4.55	4.55	0.56014	.	0.351811	0.24366	N	0.039159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.6847	12.6808	0.56920	0.0:0.0:1.0:0.0	.	.	.	.	X	293;260;293	.	ENSP00000229243:Q293X	Q	-	1	0	ACRBP	6623631	1.000000	0.71417	0.777000	0.31699	0.094000	0.18550	2.734000	0.47368	2.352000	0.79861	0.561000	0.74099	CAG	-	NULL		0.438	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	protein_coding	OTTHUMT00000400703.1	G	NM_032489		6623631	-1	no_errors	NM_032489	genbank	human	reviewed	54_36p	nonsense	SNP	0.881	A
LAMA1	284217	genome.wustl.edu	37	18	7040226	7040226	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr18:7040226G>A	ENST00000389658.3	-	10	1364	c.1271C>T	c.(1270-1272)cCa>cTa	p.P424L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	424	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCACTGACCTGGCTGCTTCCC	0.478																																																0			18											128.0	116.0	120.0					18																	7040226		2203	4300	6503	7030226	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1271C>T	18.37:g.7040226G>A	ENSP00000374309:p.Pro424Leu		7030226		Missense_Mutation	SNP	HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2	p.P424L	ENST00000389658.3	37	c.1271	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851746	0.71719	.	.	ENSG00000101680	ENST00000389658	T	0.61274	0.12	5.32	5.32	0.75619	EGF-like, laminin (3);	0.117195	0.64402	D	0.000018	T	0.65133	0.2662	L	0.35542	1.07	0.80722	D	1	D	0.60160	0.987	P	0.60541	0.876	T	0.62562	-0.6828	10	0.39692	T	0.17	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	424	P25391	LAMA1_HUMAN	L	424	ENSP00000374309:P424L	ENSP00000374309:P424L	P	-	2	0	LAMA1	7030226	1.000000	0.71417	0.968000	0.41197	0.286000	0.27126	7.287000	0.78681	2.775000	0.95449	0.655000	0.94253	CCA	-	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00181,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559		7030226	-1	no_errors	NM_005559	genbank	human	validated	54_36p	missense	SNP	0.998	A
FXR2	9513	genome.wustl.edu	37	17	7495130	7495130	+	3'UTR	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:7495130G>C	ENST00000250113.7	-	0	2374				MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'UTR|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2							cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAGAAGGGAGGGGTGCAGGTT	0.607																																																0			17											27.0	28.0	28.0					17																	7495130		1971	4148	6119	7435854	SO:0001624	3_prime_UTR_variant	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.*18C>G	17.37:g.7495130G>C			7435854	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1	p.P681A	ENST00000250113.7	37	c.2041	CCDS45604.1	17																																																																																			-	NULL		0.607	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	protein_coding	OTTHUMT00000441084.1	G			7435854	-1	no_errors	ENST00000250113	ensembl	human	known	54_36p	missense	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		7517845	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7517845	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.807	T
USP7	7874	genome.wustl.edu	37	16	8988686	8988686	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr16:8988686C>A	ENST00000344836.4	-	29	3264	c.3066G>T	c.(3064-3066)aaG>aaT	p.K1022N	USP7_ENST00000381886.4_Missense_Mutation_p.K1006N|USP7_ENST00000535863.1_Missense_Mutation_p.K923N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1022					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCTGGATTCGCTTCATCACTT	0.597																																																0			16											102.0	97.0	99.0					16																	8988686		2197	4300	6497	8896187	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3066G>T	16.37:g.8988686C>A	ENSP00000343535:p.Lys1022Asn		8896187	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.K1022N	ENST00000344836.4	37	c.3066	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217046	0.58560	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.08102	3.13;3.14	5.48	3.5	0.40072	.	0.049867	0.85682	D	0.000000	T	0.08088	0.0202	L	0.37561	1.115	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.14309	-1.0477	10	0.46703	T	0.11	.	12.45	0.55671	0.0:0.8609:0.0:0.1391	.	1022;1006	Q93009;B7Z815	UBP7_HUMAN;.	N	1022;1030;923	ENSP00000343535:K1022N;ENSP00000443646:K923N	ENSP00000343535:K1022N	K	-	3	2	USP7	8896187	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.777000	0.38604	1.315000	0.45114	0.455000	0.32223	AAG	-	NULL		0.597	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	protein_coding	OTTHUMT00000434268.2	C			8896187	-1	no_errors	NM_003470	genbank	human	validated	54_36p	missense	SNP	1.000	A
DNAH9	1770	genome.wustl.edu	37	17	11797783	11797783	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:11797783C>A	ENST00000262442.4	+	59	11444	c.11376C>A	c.(11374-11376)ttC>ttA	p.F3792L	DNAH9_ENST00000608377.1_Missense_Mutation_p.F104L|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.F3792L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3792					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCGTGGAGTTCCTCTCCCATC	0.532																																																0			17											85.0	85.0	85.0					17																	11797783		2203	4300	6503	11738508	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11376C>A	17.37:g.11797783C>A	ENSP00000262442:p.Phe3792Leu		11738508	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2	p.F3792L	ENST00000262442.4	37	c.11376	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633461	0.87660	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.08102	3.13;3.13;3.13	5.03	5.03	0.67393	Dynein heavy chain (1);	0.051723	0.85682	D	0.000000	T	0.29423	0.0733	M	0.87617	2.895	0.80722	D	1	P;P	0.49961	0.533;0.93	P;P	0.59643	0.464;0.861	T	0.04307	-1.0961	10	0.72032	D	0.01	.	12.7678	0.57401	0.0:0.9212:0.0:0.0788	.	145;3792	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	L	3792;3792;2374;104;145	ENSP00000262442:F3792L;ENSP00000414874:F3792L;ENSP00000379323:F104L	ENSP00000262442:F3792L	F	+	3	2	DNAH9	11738508	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.711000	0.37930	2.330000	0.79161	0.655000	0.94253	TTC	-	HMMPfam_Dynein_heavy		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11738508	+1	no_errors	NM_001372	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16261174	16261174	+	Silent	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:16261174G>C	ENST00000375759.3	+	11	8643	c.8439G>C	c.(8437-8439)ggG>ggC	p.G2813G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2813	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTTCTGAAGGGGTTGTGCTCC	0.602																																																0			1											54.0	61.0	59.0					1																	16261174		2203	4300	6503	16133761	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8439G>C	1.37:g.16261174G>C			16133761	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC	p.G2813	ENST00000375759.3	37	c.8439	CCDS164.1	1																																																																																			-	NULL		0.602	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16133761	+1	no_errors	NM_015001	genbank	human	reviewed	54_36p	silent	SNP	0.981	C
KLHDC7A	127707	genome.wustl.edu	37	1	18809147	18809147	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:18809147C>T	ENST00000400664.1	+	1	1724	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	558						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)		GCCCTCCAGCCGCGTCTTCTG	0.701																																																0			1											11.0	15.0	14.0					1																	18809147		2134	4224	6358	18681734	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.1672C>T	1.37:g.18809147C>T	ENSP00000383505:p.Arg558Cys		18681734	Q8N8W6	Missense_Mutation	SNP	superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch	p.R558C	ENST00000400664.1	37	c.1672	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638358	0.67130	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78126	-1.15	5.2	4.26	0.50523	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	L	0.39633	1.23	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84449	0.0587	10	0.87932	D	0	.	13.8804	0.63678	0.1528:0.8472:0.0:0.0	.	495;558	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	C	558;495	ENSP00000383505:R558C	ENSP00000383505:R558C	R	+	1	0	KLHDC7A	18681734	0.876000	0.30132	0.756000	0.31282	0.976000	0.68499	1.785000	0.38684	2.423000	0.82170	0.561000	0.74099	CGC	-	superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch		0.701	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	protein_coding	OTTHUMT00000006923.3	C	NM_152375		18681734	+1	no_errors	NM_152375	genbank	human	validated	54_36p	missense	SNP	1.000	T
MEF2BNB	729991	genome.wustl.edu	37	19	19290321	19290321	+	Intron	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:19290321C>T	ENST00000462790.3	-	5	874				MEF2B_ENST00000162023.5_Intron|MEF2B_ENST00000602424.2_Intron|MEF2BNB-MEF2B_ENST00000514819.3_Intron|MEF2BNB_ENST00000585679.1_Intron|MEF2BNB-MEF2B_ENST00000444486.3_Intron|MEF2BNB-MEF2B_ENST00000602276.1_Intron|MEF2BNB_ENST00000494489.2_Intron	NM_001145784.1	NP_001139256.1	Q96FH0	MF2NB_HUMAN	MEF2B neighbor						heart development (GO:0007507)												GGCTCTGGGGCTACAGCTTGA	0.582																																																0			19																																								19151321	SO:0001627	intron_variant	0				CCDS46025.1, CCDS54235.1	19p13.11	2011-04-19			ENSG00000254901	ENSG00000254901			37247	protein-coding gene	gene with protein product							Standard	NM_001145783		Approved		uc002nlq.3	Q96FH0	OTTHUMG00000166546	ENST00000462790.3:c.357+1173G>A	19.37:g.19290321C>T			19151321	B2RXF9|Q9BT01	Missense_Mutation	SNP	NULL	p.S163N	ENST00000462790.3	37	c.488	CCDS46025.1	19																																																																																			-	NULL		0.582	MEF2BNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133072	protein_coding	OTTHUMT00000336091.4	C			19151321	-1	no_errors	XM_001726862	genbank	human	model	54_36p	missense	SNP	0.003	T
LZTR1	8216	genome.wustl.edu	37	22	21343123	21343123	+	Silent	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr22:21343123C>T	ENST00000215739.8	+	6	914	c.555C>T	c.(553-555)gaC>gaT	p.D185D	LZTR1_ENST00000389355.3_Silent_p.D166D|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	185					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTACAGTGACAAGCTGTGGA	0.652																																																0			22											174.0	133.0	147.0					22																	21343123		2203	4300	6503	19673123	SO:0001819	synonymous_variant	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.555C>T	22.37:g.21343123C>T			19673123	Q14776|Q20WK0	Silent	SNP	superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612,HMMPfam_Kelch_2,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_BTB	p.D185	ENST00000215739.8	37	c.555	CCDS33606.1	22																																																																																			-	superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1		0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	protein_coding	OTTHUMT00000320387.1	C	NM_006767		19673123	+1	no_errors	NM_006767	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
TEP1	7011	genome.wustl.edu	37	14	20847231	20847231	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:20847231T>C	ENST00000262715.5	-	36	5201	c.5161A>G	c.(5161-5163)Atc>Gtc	p.I1721V	TEP1_ENST00000545983.1_Missense_Mutation_p.I59V|TEP1_ENST00000556935.1_Missense_Mutation_p.I1613V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1721					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAAGCAGAGATTCCATCACAG	0.577																																																0			14											107.0	97.0	100.0					14																	20847231		2203	4300	6503	19917071	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5161A>G	14.37:g.20847231T>C	ENSP00000262715:p.Ile1721Val		19917071	A0AUV9	Missense_Mutation	SNP	HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.I1721V	ENST00000262715.5	37	c.5161	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	T	10.87	1.474096	0.26423	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.48522	0.81;1.72;1.72	5.95	2.53	0.30540	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.236891	0.42172	N	0.000755	T	0.18002	0.0432	N	0.03324	-0.35	0.23984	N	0.99627	B;B;B;B	0.14012	0.003;0.009;0.003;0.005	B;B;B;B	0.16722	0.002;0.016;0.005;0.007	T	0.32851	-0.9891	10	0.02654	T	1	-12.3145	7.1784	0.25757	0.0:0.4368:0.0:0.5632	.	59;1613;1064;1721	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1721;1721;1613;59	ENSP00000262715:I1721V;ENSP00000452574:I1613V;ENSP00000438849:I59V	ENSP00000262715:I1721V	I	-	1	0	TEP1	19917071	0.596000	0.26866	0.554000	0.28268	0.927000	0.56198	0.752000	0.26362	0.232000	0.21100	0.460000	0.39030	ATC	-	superfamily_WD40 repeat-like,HMMSmart_SM00320		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	protein_coding	OTTHUMT00000073563.2	T	NM_007110		19917071	-1	no_errors	NM_007110	genbank	human	reviewed	54_36p	missense	SNP	0.757	C
EPHA8	2046	genome.wustl.edu	37	1	22915416	22915416	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:22915416G>A	ENST00000166244.3	+	5	1104	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	EPHA8_ENST00000538803.1_Silent_p.V344V|EPHA8_ENST00000374644.4_Silent_p.V344V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGACATCAGTGACTCTGGAGT	0.627																																																0			1											55.0	51.0	52.0					1																	22915416		2203	4300	6503	22788003	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1032G>A	1.37:g.22915416G>A			22788003	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1	p.V344	ENST00000166244.3	37	c.1032	CCDS225.1	1																																																																																			-	superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3		0.627	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	G	NM_020526		22788003	+1	no_errors	NM_020526	genbank	human	reviewed	54_36p	silent	SNP	0.989	A
IPO4	79711	genome.wustl.edu	37	14	24652251	24652251	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:24652251G>A	ENST00000354464.6	-	23	2528	c.2352C>T	c.(2350-2352)acC>acT	p.T784T	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	784					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCAGTGTGAGGGTCCCACAGC	0.662																																																0			14											44.0	51.0	49.0					14																	24652251		2116	4234	6350	23722091	SO:0001819	synonymous_variant	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2352C>T	14.37:g.24652251G>A			23722091	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_HEAT,PatternScan_PA2_HIS	p.T784	ENST00000354464.6	37	c.2352	CCDS9616.1	14																																																																																			-	superfamily_ARM repeat		0.662	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	protein_coding	OTTHUMT00000071931.4	G	NM_024658		23722091	-1	no_errors	NM_024658	genbank	human	validated	54_36p	silent	SNP	0.000	A
OTOF	9381	genome.wustl.edu	37	2	26725226	26725226	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr2:26725226G>A	ENST00000272371.2	-	7	778	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	OTOF_ENST00000403946.3_Missense_Mutation_p.P218S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	218					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCGAGTCGGGATCCAGTCCA	0.587																																					GBM(102;732 1451 20652 24062 31372)											0			2											97.0	80.0	86.0					2																	26725226		2203	4300	6503	26578730	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.652C>T	2.37:g.26725226G>A	ENSP00000272371:p.Pro218Ser		26578730	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB	p.P218S	ENST00000272371.2	37	c.652	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541780	0.45280	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.79845	-1.31;-1.31	5.52	4.64	0.57946	.	0.255793	0.46442	N	0.000283	T	0.72285	0.3441	M	0.62723	1.935	0.58432	D	0.999999	P	0.35077	0.483	B	0.30943	0.122	T	0.69194	-0.5209	10	0.02654	T	1	-12.2469	12.9292	0.58276	0.0782:0.0:0.9218:0.0	.	218	Q9HC10	OTOF_HUMAN	S	218;218;102	ENSP00000272371:P218S;ENSP00000385255:P218S	ENSP00000272371:P218S	P	-	1	0	OTOF	26578730	1.000000	0.71417	0.559000	0.28332	0.438000	0.31896	7.371000	0.79600	1.340000	0.45581	0.655000	0.94253	CCC	-	NULL		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	G			26578730	-1	no_errors	NM_194248	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PDS5B	23047	genome.wustl.edu	37	13	33281093	33281093	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:33281093A>G	ENST00000315596.10	+	18	2065	c.1879A>G	c.(1879-1881)Aaa>Gaa	p.K627E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	627					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ACAAGTGAACAAATCAATAGA	0.323																																																0			13											96.0	94.0	94.0					13																	33281093		1872	4098	5970	32179093	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1879A>G	13.37:g.33281093A>G	ENSP00000313851:p.Lys627Glu		32179093	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_AT_hook	p.K627E	ENST00000315596.10	37	c.1879	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359914	0.61403	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	L	0.31065	0.9	0.58432	D	0.999999	P	0.35923	0.528	B	0.36289	0.221	T	0.38993	-0.9635	9	0.07644	T	0.81	-9.2359	16.3469	0.83138	1.0:0.0:0.0:0.0	.	627	Q9NTI5	PDS5B_HUMAN	E	627	.	ENSP00000313851:K627E	K	+	1	0	PDS5B	32179093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.181000	0.94874	2.263000	0.75096	0.528000	0.53228	AAA	-	superfamily_ARM repeat		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	protein_coding	OTTHUMT00000044428.3	A	NM_015032		32179093	+1	no_errors	NM_015032	genbank	human	validated	54_36p	missense	SNP	1.000	G
CDC42EP1	11135	genome.wustl.edu	37	22	37964354	37964354	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr22:37964354A>G	ENST00000249014.4	+	3	1123	c.703A>G	c.(703-705)Act>Gct	p.T235A		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	235	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCAGCCCCTACTGCAAACCC	0.677																																																0			22																																								36294300	SO:0001583	missense	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.703A>G	22.37:g.37964354A>G	ENSP00000249014:p.Thr235Ala		36294300	A8K825|Q96GN1	Missense_Mutation	SNP	HMMPfam_PBD,HMMSmart_SM00285	p.T235A	ENST00000249014.4	37	c.703	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	A	0.062	-1.221858	0.01530	.	.	ENSG00000128283	ENST00000249014	T	0.27890	1.64	2.24	-4.47	0.03525	.	.	.	.	.	T	0.12092	0.0294	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37619	-0.9698	9	0.02654	T	1	.	2.9823	0.05957	0.2598:0.0:0.3869:0.3533	.	235	Q00587	BORG5_HUMAN	A	235	ENSP00000249014:T235A	ENSP00000249014:T235A	T	+	1	0	CDC42EP1	36294300	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.988000	0.03739	-0.496000	0.06650	-1.073000	0.02249	ACT	-	NULL		0.677	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	protein_coding	OTTHUMT00000318993.1	A	NM_152243		36294300	+1	no_errors	NM_152243	genbank	human	reviewed	54_36p	missense	SNP	0.217	G
TRIOBP	11078	genome.wustl.edu	37	22	38097449	38097449	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr22:38097449G>C	ENST00000406386.3	+	3	332	c.77G>C	c.(76-78)tGc>tCc	p.C26S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	26					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGTCAAAACTGCTTCCACCCT	0.582																																																0			22											87.0	89.0	88.0					22																	38097449		2006	4170	6176	36427395	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.77G>C	22.37:g.38097449G>C	ENSP00000384312:p.Cys26Ser		36427395	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like	p.C26S	ENST00000406386.3	37	c.77	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597895	0.46318	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.60920	0.15	5.62	4.6	0.57074	.	.	.	.	.	T	0.41305	0.1153	N	0.14661	0.345	0.46798	D	0.999205	P	0.43094	0.799	B	0.40228	0.323	T	0.47195	-0.9136	9	0.87932	D	0	.	11.7198	0.51675	0.0826:0.0:0.9174:0.0	.	26	Q9H2D6	TARA_HUMAN	S	26	ENSP00000384312:C26S	ENSP00000340312:C26S	C	+	2	0	TRIOBP	36427395	0.413000	0.25400	0.067000	0.19924	0.732000	0.41865	1.672000	0.37523	1.375000	0.46248	0.591000	0.81541	TGC	-	NULL		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	G			36427395	+1	no_errors	NM_001039141	genbank	human	reviewed	54_36p	missense	SNP	0.038	C
EPDR1	54749	genome.wustl.edu	37	7	37960471	37960471	+	5'UTR	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:37960471A>C	ENST00000199448.4	+	0	309				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000559325.1_Missense_Mutation_p.H97P|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGCGGGAGCCACTCTGATCCC	0.692																																																0			7											17.0	25.0	23.0					7																	37960471		2149	4238	6387	37926996	SO:0001623	5_prime_UTR_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-71A>C	7.37:g.37960471A>C			37926996	A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2	p.H97P	ENST00000199448.4	37	c.290	CCDS5454.2	7	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915991	0.33815	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.13	-8.27	0.01017	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	8	0.54805	T	0.06	0.4567	2.0222	0.03511	0.1477:0.3615:0.2808:0.21	.	97	A4D1W8	.	P	97;71	.	ENSP00000199448:H97P	H	+	2	0	EPDR1	37926996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.086000	0.11233	-1.939000	0.01044	-0.460000	0.05396	CAC	-	NULL		0.692	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	protein_coding	OTTHUMT00000220037.3	A	NM_017549		37926996	+1	no_errors	NM_017549	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
ZNF33A	7581	genome.wustl.edu	37	10	38344203	38344203	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr10:38344203C>T	ENST00000458705.2	+	5	1306	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	ZNF33A_ENST00000432900.2_Missense_Mutation_p.P390L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.P384L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.P383L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGGGAGAAACCTTTTGAATGC	0.418																																																0			10											83.0	84.0	84.0					10																	38344203		2203	4300	6503	38384209	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1148C>T	10.37:g.38344203C>T	ENSP00000387713:p.Pro383Leu		38384209	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.P384L	ENST00000458705.2	37	c.1151	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434345	0.62955	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	2.34	2.34	0.29019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35772	N	0.002986	T	0.50429	0.1615	M	0.72479	2.2	0.45867	D	0.998721	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.97110	0.999;1.0;0.723	T	0.54503	-0.8284	10	0.87932	D	0	.	10.3348	0.43844	0.0:1.0:0.0:0.0	.	390;383;384	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	384;390;383;383	ENSP00000363747:P384L;ENSP00000402467:P390L;ENSP00000387713:P383L;ENSP00000304268:P383L	ENSP00000304268:P383L	P	+	2	0	ZNF33A	38384209	0.997000	0.39634	0.755000	0.31263	0.981000	0.71138	3.829000	0.55760	1.281000	0.44480	0.460000	0.39030	CCT	-	superfamily_C2H2 and C2HC zinc fingers		0.418	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	protein_coding	OTTHUMT00000047614.1	C	NM_006974		38384209	+1	no_errors	NM_006954	genbank	human	validated	54_36p	missense	SNP	0.987	T
ENTHD1	150350	genome.wustl.edu	37	22	40283478	40283478	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr22:40283478T>C	ENST00000325157.6	-	2	525	c.275A>G	c.(274-276)cAt>cGt	p.H92R		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	92	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTCTCTGCAATGCTGAATAAC	0.388																																																0			22											148.0	151.0	150.0					22																	40283478		2203	4300	6503	38613424	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.275A>G	22.37:g.40283478T>C	ENSP00000317431:p.His92Arg		38613424	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273	p.H92R	ENST00000325157.6	37	c.275	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297365	0.40694	.	.	ENSG00000176177	ENST00000325157	T	0.40476	1.03	5.42	3.14	0.36123	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.429754	0.23893	N	0.043528	T	0.28599	0.0708	N	0.19112	0.55	0.26998	N	0.964987	B	0.26318	0.146	B	0.30401	0.115	T	0.20505	-1.0273	10	0.39692	T	0.17	-5.6719	10.6442	0.45610	0.3404:0.0:0.0:0.6596	.	92	Q8IYW4	ENTD1_HUMAN	R	92	ENSP00000317431:H92R	ENSP00000317431:H92R	H	-	2	0	ENTHD1	38613424	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.190000	0.42630	0.965000	0.38133	0.533000	0.62120	CAT	-	superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273		0.388	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	protein_coding	OTTHUMT00000321302.1	T	NM_152512		38613424	-1	no_errors	NM_152512	genbank	human	provisional	54_36p	missense	SNP	1.000	C
LRRK2	120892	genome.wustl.edu	37	12	40728867	40728867	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:40728867G>A	ENST00000298910.7	+	40	5914	c.5856G>A	c.(5854-5856)aaG>aaA	p.K1952K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1952	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGCCTCCAAGGGTTCCTTGG	0.542																																																0			12											126.0	116.0	119.0					12																	40728867		2203	4300	6503	39015134	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5856G>A	12.37:g.40728867G>A			39015134	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2	p.K1952	ENST00000298910.7	37	c.5856	CCDS31774.1	12																																																																																			-	superfamily_Kinase_like,HMMPfam_Pkinase		0.542	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	G	XM_058513		39015134	+1	no_errors	NM_198578	genbank	human	reviewed	54_36p	silent	SNP	0.128	A
BCOR	54880	genome.wustl.edu	37	X	39933560	39933560	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chrX:39933560T>C	ENST00000378444.4	-	4	1267	c.1039A>G	c.(1039-1041)Acc>Gcc	p.T347A	BCOR_ENST00000342274.4_Missense_Mutation_p.T347A|BCOR_ENST00000397354.3_Missense_Mutation_p.T347A|BCOR_ENST00000378455.4_Missense_Mutation_p.T347A	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	347					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCAGGCTGGGTGGGAAGGTGG	0.622			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0			X											43.0	33.0	36.0					X																	39933560		2202	4300	6502	39818504	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1039A>G	X.37:g.39933560T>C	ENSP00000367705:p.Thr347Ala		39818504	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.T347A	ENST00000378444.4	37	c.1039	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	T	4.437	0.080861	0.08533	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.56	-2.95	0.05564	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.35201	-0.9798	9	0.24483	T	0.36	-5.445	2.0389	0.03545	0.2416:0.3557:0.2562:0.1465	.	347;347;347;347	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	A	347	ENSP00000367716:T347A;ENSP00000380512:T347A;ENSP00000367705:T347A;ENSP00000345923:T347A;ENSP00000384485:T347A	ENSP00000345923:T347A	T	-	1	0	BCOR	39818504	0.005000	0.15991	0.001000	0.08648	0.904000	0.53231	0.055000	0.14229	-0.281000	0.09141	0.486000	0.48141	ACC	-	NULL		0.622	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	T	NM_017745		39818504	-1	no_errors	NM_017745	genbank	human	reviewed	54_36p	missense	SNP	0.114	C
FOXO1	2308	genome.wustl.edu	37	13	41134759	41134759	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:41134759G>T	ENST00000379561.5	-	2	1253	c.869C>A	c.(868-870)tCa>tAa	p.S290*	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	290	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGAAAACTGTGATCCAGGGCT	0.502																																																0			13											82.0	72.0	76.0					13																	41134759		2203	4300	6503	40032759	SO:0001587	stop_gained	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.869C>A	13.37:g.41134759G>T	ENSP00000368880:p.Ser290*		40032759	O43523|Q5VYC7|Q6NSK6	Nonsense_Mutation	SNP	PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,superfamily_SSF46785,HMMSmart_FH,PatternScan_FORK_HEAD_2	p.S290*	ENST00000379561.5	37	c.869	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.444948	0.98289	.	.	ENSG00000150907	ENST00000379561	.	.	.	5.61	5.61	0.85477	.	0.179465	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7632	18.6299	0.91357	0.0:0.0:1.0:0.0	.	.	.	.	X	290	.	ENSP00000368880:S290X	S	-	2	0	FOXO1	40032759	1.000000	0.71417	0.782000	0.31804	0.734000	0.41952	9.476000	0.97823	2.653000	0.90120	0.467000	0.42956	TCA	-	NULL		0.502	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	protein_coding	OTTHUMT00000044634.3	G	NM_002015		40032759	-1	no_errors	NM_002015	genbank	human	reviewed	54_36p	nonsense	SNP	0.952	T
TGM7	116179	genome.wustl.edu	37	15	43571397	43571397	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr15:43571397C>G	ENST00000452443.2	-	11	1761	c.1757G>C	c.(1756-1758)gGc>gCc	p.G586A		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	586					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTCCGCGATGCCAGACACGCG	0.522																																																0			15											98.0	82.0	88.0					15																	43571397		2202	4299	6501	41358689	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1757G>C	15.37:g.43571397C>G	ENSP00000389466:p.Gly586Ala		41358689		Missense_Mutation	SNP	superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglut_C,HMMPfam_Transglut_C	p.G586A	ENST00000452443.2	37	c.1757	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	C	4.652	0.121178	0.08881	.	.	ENSG00000159495	ENST00000452443	T	0.21031	2.03	5.42	4.48	0.54585	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.196363	0.43919	D	0.000515	T	0.08714	0.0216	N	0.16368	0.405	0.32324	N	0.562075	P	0.43750	0.816	B	0.32762	0.152	T	0.10894	-1.0610	10	0.02654	T	1	-26.545	11.3235	0.49436	0.1817:0.8183:0.0:0.0	.	586	Q96PF1	TGM7_HUMAN	A	586	ENSP00000389466:G586A	ENSP00000389466:G586A	G	-	2	0	TGM7	41358689	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.703000	0.37846	1.245000	0.43885	0.655000	0.94253	GGC	-	superfamily_Transglut_C,HMMPfam_Transglut_C		0.522	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	protein_coding	OTTHUMT00000432489.1	C	NM_052955		41358689	-1	no_errors	NM_052955	genbank	human	validated	54_36p	missense	SNP	0.990	G
EPSTI1	94240	genome.wustl.edu	37	13	43566224	43566224	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:43566224G>A	ENST00000398762.3	-	1	77	c.78C>T	c.(76-78)gaC>gaT	p.D26D	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313640.7_Silent_p.D26D|EPSTI1_ENST00000313624.7_Silent_p.D26D			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	26										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GCCCAGAAGGGTCCTGGGGAT	0.701																																																0			13											20.0	26.0	24.0					13																	43566224		2191	4279	6470	42464224	SO:0001819	synonymous_variant	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.78C>T	13.37:g.43566224G>A			42464224	Q8IVC7|Q8NDQ7	Silent	SNP	NULL	p.D26	ENST00000398762.3	37	c.78	CCDS9387.1	13																																																																																			-	NULL		0.701	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	protein_coding	OTTHUMT00000400321.1	G	NM_001002264		42464224	-1	no_errors	NM_001002264	genbank	human	validated	54_36p	silent	SNP	0.000	A
RIMKLA	284716	genome.wustl.edu	37	1	42880544	42880544	+	Missense_Mutation	SNP	C	C	T	rs369934711		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:42880544C>T	ENST00000431473.3	+	5	1204	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	359					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGGAGAGATCCGGGATTCCTC	0.527																																																0			1						C	TRP/ARG	0,4406		0,0,2203	74.0	77.0	76.0		1075	4.4	1.0	1		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIMKLA	NM_173642.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	359/392	42880544	1,13005	2203	4300	6503	42653131	SO:0001583	missense	284716			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.1075C>T	1.37:g.42880544C>T	ENSP00000414330:p.Arg359Trp		42653131	Q5VUS5	Missense_Mutation	SNP	superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_RimK	p.R318W	ENST00000431473.3	37	c.952	CCDS466.2	1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228219	0.58777	0.0	1.16E-4	ENSG00000177181	ENST00000431473	.	.	.	5.38	4.4	0.53042	.	0.211530	0.40064	N	0.001189	T	0.56108	0.1963	L	0.44542	1.39	0.36276	D	0.855501	D	0.67145	0.996	P	0.56648	0.803	T	0.65401	-0.6177	9	0.72032	D	0.01	-19.0224	10.0243	0.42061	0.3352:0.6648:0.0:0.0	.	359	Q8IXN7	RIMKA_HUMAN	W	359	.	ENSP00000414330:R359W	R	+	1	2	RIMKLA	42653131	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.813000	0.27225	2.524000	0.85096	0.561000	0.74099	CGG	-	NULL		0.527	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLA	protein_coding	OTTHUMT00000019174.3	C	NM_173642		42653131	+1	no_errors	NM_173642	genbank	human	validated	54_36p	missense	SNP	1.000	T
RBPJL	11317	genome.wustl.edu	37	20	43942147	43942147	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr20:43942147G>T	ENST00000343694.3	+	7	731	c.659G>T	c.(658-660)cGc>cTc	p.R220L	RBPJL_ENST00000372743.1_Missense_Mutation_p.R220L|RBPJL_ENST00000372741.3_Missense_Mutation_p.R220L	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	220					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTCTTCAACCGCCTGCGCTCT	0.612																																																0			20											106.0	83.0	91.0					20																	43942147		2203	4300	6503	43375561	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.659G>T	20.37:g.43942147G>T	ENSP00000341243:p.Arg220Leu		43375561	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	superfamily_P53_like_DNA_bnd,HMMPfam_LAG1-DNAbind,superfamily_Beta-trefoil,HMMPfam_Beta-trefoil,superfamily_Ig_E-set,HMMPfam_TIG	p.R220L	ENST00000343694.3	37	c.659	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.240100	0.95240	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.64438	-0.1;-0.1;-0.1	5.06	5.06	0.68205	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.83295	-0.0031	10	0.87932	D	0	-34.5264	17.6043	0.88034	0.0:0.0:1.0:0.0	.	220;220	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	L	220	ENSP00000361828:R220L;ENSP00000361826:R220L;ENSP00000341243:R220L	ENSP00000341243:R220L	R	+	2	0	RBPJL	43375561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.202000	0.95026	2.618000	0.88619	0.557000	0.71058	CGC	-	superfamily_Beta-trefoil,HMMPfam_Beta-trefoil		0.612	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	protein_coding	OTTHUMT00000080391.1	G	NM_014276		43375561	+1	no_errors	NM_014276	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40433675	40433675	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:40433675G>A	ENST00000221347.6	-	2	601	c.594C>T	c.(592-594)taC>taT	p.Y198Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	198	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCCACATTGTAGGGCTGTA	0.572																																																0			19											73.0	72.0	72.0					19																	40433675		2203	4300	6503	45125515	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.594C>T	19.37:g.40433675G>A			45125515	O95784	Silent	SNP	HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC	p.Y198	ENST00000221347.6	37	c.594	CCDS12546.1	19																																																																																			-	NULL		0.572	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890		45125515	-1	no_errors	NM_003890	genbank	human	validated	54_36p	silent	SNP	0.320	A
NCKAP5L	57701	genome.wustl.edu	37	12	50188845	50188845	+	Missense_Mutation	SNP	C	C	G	rs74484201	byFrequency	TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:50188845C>G	ENST00000335999.6	-	8	2999	c.2798G>C	c.(2797-2799)cGc>cCc	p.R933P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	929										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTCTGTGCGGCGGTTCAGCGC	0.677																																																0			12											13.0	15.0	14.0					12																	50188845		1958	4140	6098	48475112	SO:0001583	missense	57701			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2798G>C	12.37:g.50188845C>G	ENSP00000337998:p.Arg933Pro		48475112	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	NULL	p.R524P	ENST00000335999.6	37	c.1571	CCDS41781.2	12	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240781	0.79912	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.60424	0.19	5.23	5.23	0.72850	.	0.000000	0.42294	D	0.000736	T	0.73636	0.3612	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.74785	-0.3547	10	0.59425	D	0.04	-16.6534	17.9588	0.89078	0.0:1.0:0.0:0.0	.	907;929;929	E2QRB5;Q9HCH0;Q9HCH0-2	.;NCK5L_HUMAN;.	P	933;907	ENSP00000337998:R933P	ENSP00000337998:R933P	R	-	2	0	NCKAP5L	48475112	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.644000	0.61397	2.619000	0.88677	0.462000	0.41574	CGC	-	NULL		0.677	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1602	protein_coding	OTTHUMT00000346884.2	C	XM_035497		48475112	-1	no_errors	ENST00000335999	ensembl	human	known	54_36p	missense	SNP	1.000	G
NCKAP5L	57701	genome.wustl.edu	37	12	50197743	50197743	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:50197743T>G	ENST00000335999.6	-	3	286	c.85A>C	c.(85-87)Acc>Ccc	p.T29P	NCKAP5L_ENST00000480927.1_5'Flank	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	25										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TCCTGGCAGGTGCCTGGCTCC	0.672																																																0			12											75.0	82.0	80.0					12																	50197743		1993	4172	6165	48484010	SO:0001583	missense	0			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.85A>C	12.37:g.50197743T>G	ENSP00000337998:p.Thr29Pro		48484010	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	NULL	p.T25P	ENST00000335999.6	37	c.73	CCDS41781.2	12	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037343	0.35989	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.47869	0.83	5.55	3.22	0.36961	.	.	.	.	.	T	0.31888	0.0811	N	0.24115	0.695	0.24761	N	0.992928	B	0.02656	0.0	B	0.04013	0.001	T	0.18524	-1.0334	9	0.42905	T	0.14	-8.2324	7.6281	0.28224	0.0:0.1697:0.0:0.8303	.	25	E2QRB5	.	P	29;25	ENSP00000337998:T29P	ENSP00000337998:T29P	T	-	1	0	NCKAP5L	48484010	0.995000	0.38212	0.835000	0.33067	0.542000	0.35054	2.536000	0.45693	0.923000	0.37045	-0.441000	0.05720	ACC	-	NULL		0.672	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	uc001rvf.1	protein_coding	OTTHUMT00000346884.2	T	XM_035497		48484010	-1	no_errors	ENST00000408986	ensembl	human	known	54_36p	missense	SNP	0.999	G
SYMPK	8189	genome.wustl.edu	37	19	46351107	46351107	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:46351107G>A	ENST00000245934.7	-	7	823	c.579C>T	c.(577-579)acC>acT	p.T193T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	193					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGTGACAGGGTGACAATGA	0.582																																																0			19											113.0	93.0	99.0					19																	46351107		2203	4300	6503	51042947	SO:0001819	synonymous_variant	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.579C>T	19.37:g.46351107G>A			51042947	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	superfamily_ARM repeat,HMMPfam_HEAT	p.T193	ENST00000245934.7	37	c.579	CCDS12676.2	19																																																																																			-	superfamily_ARM repeat		0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	protein_coding	OTTHUMT00000316581.1	G	NM_004819		51042947	-1	no_errors	NM_004819	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
UNC13C	440279	genome.wustl.edu	37	15	54306223	54306223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr15:54306223C>T	ENST00000260323.11	+	1	1123	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R375*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.R375*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	375					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R375*(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCAAAGCCTCGACCCATACT	0.378																																																2	Substitution - Nonsense(2)	urinary_tract(2)	15											76.0	73.0	74.0					15																	54306223		1849	4092	5941	52093515	SO:0001587	stop_gained	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1123C>T	15.37:g.54306223C>T	ENSP00000260323:p.Arg375*		52093515	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD	p.R375*	ENST00000260323.11	37	c.1123	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.620188	0.97709	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.38	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8083	0.34952	0.4567:0.4185:0.1249:0.0	.	.	.	.	X	375	.	ENSP00000260323:R375X	R	+	1	2	UNC13C	52093515	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.979000	0.40608	0.560000	0.29169	0.655000	0.94253	CGA	-	NULL		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	C	NM_173166		52093515	+1	no_errors	NM_001080534	genbank	human	provisional	54_36p	nonsense	SNP	0.996	T
PRPF38A	84950	genome.wustl.edu	37	1	52871381	52871381	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:52871381T>G	ENST00000257181.9	+	2	346	c.160T>G	c.(160-162)Tta>Gta	p.L54V	PRPF38A_ENST00000474048.1_3'UTR|ORC1_ENST00000371568.3_5'Flank|ORC1_ENST00000371566.1_5'Flank	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	54					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGCCATGGAGTTAAGGTTTGT	0.398																																																0			1											127.0	125.0	125.0					1																	52871381		2203	4300	6503	52643969	SO:0001583	missense	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.160T>G	1.37:g.52871381T>G	ENSP00000257181:p.Leu54Val		52643969	Q96JW1|Q9BVZ8	Missense_Mutation	SNP	HMMPfam_PRP38	p.L54V	ENST00000257181.9	37	c.160	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319068	0.81469	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.45	1.95	0.26073	.	0.162995	0.42548	D	0.000696	T	0.62270	0.2414	M	0.68728	2.09	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.66964	-0.5790	9	0.05721	T	0.95	-5.9089	6.1152	0.20122	0.0:0.4328:0.0:0.5672	.	54	Q8NAV1	PR38A_HUMAN	V	54	.	ENSP00000257181:L54V	L	+	1	2	PRPF38A	52643969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.899000	0.56288	0.899000	0.36444	0.477000	0.44152	TTA	-	HMMPfam_PRP38		0.398	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	protein_coding	OTTHUMT00000022459.2	T	NM_032864		52643969	+1	no_errors	NM_032864	genbank	human	validated	54_36p	missense	SNP	1.000	G
FAM83E	54854	genome.wustl.edu	37	19	49116461	49116461	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:49116461G>A	ENST00000263266.3	-	1	358	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	57										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTGAGGAAGGGCCACAGCTCC	0.657																																																0			19											28.0	34.0	32.0					19																	49116461		2146	4264	6410	53808273	SO:0001583	missense	54854			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.169C>T	19.37:g.49116461G>A	ENSP00000263266:p.Pro57Ser		53808273	Q9NXK1	Missense_Mutation	SNP	HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease	p.P57S	ENST00000263266.3	37	c.169	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255339	0.22965	.	.	ENSG00000105523	ENST00000263266	T	0.10960	2.82	5.06	3.99	0.46301	.	0.299613	0.33253	N	0.005117	T	0.11067	0.0270	L	0.46157	1.445	0.29958	N	0.819653	P	0.39809	0.689	B	0.38921	0.285	T	0.05289	-1.0894	10	0.25106	T	0.35	-25.7754	12.7996	0.57578	0.0:0.0:0.835:0.165	.	57	Q2M2I3	FA83E_HUMAN	S	57	ENSP00000263266:P57S	ENSP00000263266:P57S	P	-	1	0	FAM83E	53808273	0.894000	0.30519	0.979000	0.43373	0.096000	0.18686	1.716000	0.37981	1.240000	0.43803	0.655000	0.94253	CCC	-	HMMPfam_DUF1669		0.657	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	protein_coding	OTTHUMT00000466145.1	G	NM_017708		53808273	-1	no_errors	NM_017708	genbank	human	validated	54_36p	missense	SNP	0.996	A
CACNA1D	776	genome.wustl.edu	37	3	53845164	53845164	+	Missense_Mutation	SNP	C	C	T	rs140215004		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr3:53845164C>T	ENST00000350061.5	+	48	6728	c.6217C>T	c.(6217-6219)Cgc>Tgc	p.R2073C	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R2049C|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R2093C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2073					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCTTGGGACGCTATGCAAG	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21189	0.0		0.0	False		,,,				2504	0.0															0			3						C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	95.0	96.0		6277,6145,6217	5.4	1.0	3	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	2093/2182,2049/2138,2073/2162	53845164	1,13005	2203	4300	6503	53820204	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6217C>T	3.37:g.53845164C>T	ENSP00000288133:p.Arg2073Cys		53820204	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ	p.R2093C	ENST00000350061.5	37	c.6277	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623440	0.66901	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.39	5.39	0.77823	.	0.320794	0.25083	N	0.033278	T	0.70666	0.3250	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	P;P;P;P	0.62184	0.719;0.772;0.676;0.899	T	0.73658	-0.3913	10	0.66056	D	0.02	.	15.2605	0.73617	0.1488:0.8512:0.0:0.0	.	2049;1766;2073;2093	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	C	2073;2093;2049;1766	ENSP00000288133:R2073C;ENSP00000288139:R2093C;ENSP00000409174:R2049C;ENSP00000418014:R1766C	ENSP00000288139:R2093C	R	+	1	0	CACNA1D	53820204	0.993000	0.37304	1.000000	0.80357	0.662000	0.39071	3.118000	0.50414	2.710000	0.92621	0.655000	0.94253	CGC	-	NULL		0.517	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	protein_coding	OTTHUMT00000350557.1	C	NM_000720		53820204	+1	no_errors	NM_000720	genbank	human	validated	54_36p	missense	SNP	1.000	T
IZUMO1	284359	genome.wustl.edu	37	19	49245105	49245105	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:49245105C>T	ENST00000332955.2	-	8	1242	c.695G>A	c.(694-696)cGc>cAc	p.R232H	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	232	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CAGCTCGCAGCGGTAGCTGCC	0.577																																																0			19											51.0	51.0	51.0					19																	49245105		2203	4300	6503	53936917	SO:0001583	missense	284359			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.695G>A	19.37:g.49245105C>T	ENSP00000327786:p.Arg232His		53936917	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	superfamily_Immunoglobulin	p.R232H	ENST00000332955.2	37	c.695	CCDS12732.1	19	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899417	0.72754	.	.	ENSG00000182264	ENST00000332955	D	0.84070	-1.8	5.26	4.2	0.49525	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.231220	0.30185	N	0.010217	D	0.85754	0.5770	L	0.36672	1.1	0.39709	D	0.971304	D	0.89917	1.0	D	0.75484	0.986	D	0.87155	0.2211	10	0.87932	D	0	-24.3436	11.4102	0.49921	0.1806:0.8194:0.0:0.0	.	232	Q8IYV9	IZUM1_HUMAN	H	232	ENSP00000327786:R232H	ENSP00000327786:R232H	R	-	2	0	IZUMO1	53936917	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	2.121000	0.41977	1.320000	0.45209	0.561000	0.74099	CGC	-	superfamily_Immunoglobulin		0.577	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO1	protein_coding	OTTHUMT00000466189.1	C	NM_182575		53936917	-1	no_errors	NM_182575	genbank	human	validated	54_36p	missense	SNP	0.997	T
CDC20B	166979	genome.wustl.edu	37	5	54442551	54442551	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr5:54442551G>A	ENST00000381375.2	-	3	405	c.260C>T	c.(259-261)tCt>tTt	p.S87F	CDC20B_ENST00000322374.6_Missense_Mutation_p.S87F|CDC20B_ENST00000334206.5_Missense_Mutation_p.S87F|CDC20B_ENST00000296733.1_Missense_Mutation_p.S87F|CDC20B_ENST00000331730.3_Missense_Mutation_p.S66F			Q86Y33	CD20B_HUMAN	cell division cycle 20B	87										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			AAAGGAATCAGAGGACAGAGC	0.527											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			5											121.0	114.0	117.0					5																	54442551		2203	4300	6503	54478308	SO:0001583	missense	166979			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.260C>T	5.37:g.54442551G>A	ENSP00000370781:p.Ser87Phe	1000	54478308	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.S87F	ENST00000381375.2	37	c.260	CCDS54852.1	5	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062949	0.36373	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.19105	3.05;3.05;3.05;3.05;2.17	4.44	1.43	0.22495	.	0.589102	0.15230	N	0.273448	T	0.19327	0.0464	L	0.36672	1.1	0.09310	N	1	P;P;B;P	0.48503	0.911;0.547;0.412;0.547	P;B;B;B	0.48141	0.568;0.26;0.133;0.347	T	0.10109	-1.0644	10	0.87932	D	0	-6.23	4.7907	0.13247	0.2089:0.2465:0.5446:0.0	.	87;87;87;87	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	F	87;87;87;87;66	ENSP00000335664:S87F;ENSP00000296733:S87F;ENSP00000370781:S87F;ENSP00000315720:S87F;ENSP00000330566:S66F	ENSP00000296733:S87F	S	-	2	0	CDC20B	54478308	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.633000	0.24598	0.133000	0.18654	0.650000	0.86243	TCT	-	superfamily_WD40_like		0.527	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CDC20B	protein_coding	OTTHUMT00000369715.1	G	NM_152623		54478308	-1	no_errors	NM_152623	genbank	human	provisional	54_36p	missense	SNP	0.000	A
PAN2	9924	genome.wustl.edu	37	12	56716857	56716857	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:56716857C>G	ENST00000425394.2	-	17	2870	c.2494G>C	c.(2494-2496)Gat>Cat	p.D832H	PAN2_ENST00000440411.3_Missense_Mutation_p.D828H|PAN2_ENST00000257931.5_Missense_Mutation_p.D831H|PAN2_ENST00000548043.1_Missense_Mutation_p.D832H	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	157					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGCATCTCATCCCCATCAGTC	0.488																																																0			12											145.0	145.0	145.0					12																	56716857		2203	4300	6503	55003124	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2494G>C	12.37:g.56716857C>G	ENSP00000401721:p.Asp832His		55003124		Missense_Mutation	SNP	superfamily_WD40 repeat-like,superfamily_Cysteine proteinases,HMMPfam_UCH,superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T	p.D828H	ENST00000425394.2	37	c.2482	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	C	9.609	1.130879	0.21041	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.45	2.57	0.30868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.599517	0.17999	N	0.154972	T	0.21631	0.0521	L	0.48642	1.525	0.30497	N	0.770755	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.003;0.003;0.006	T	0.11916	-1.0568	10	0.45353	T	0.12	-0.6816	8.6314	0.33922	0.0:0.7521:0.1597:0.0882	.	831;828;832	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	H	832;828;831;832	ENSP00000401721:D832H;ENSP00000388231:D828H;ENSP00000257931:D831H;ENSP00000449861:D832H	ENSP00000257931:D831H	D	-	1	0	PAN2	55003124	0.902000	0.30710	1.000000	0.80357	0.844000	0.47949	1.472000	0.35376	0.594000	0.29761	0.555000	0.69702	GAT	-	superfamily_Cysteine proteinases,HMMPfam_UCH		0.488	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	protein_coding	OTTHUMT00000409024.1	C	NM_014871		55003124	-1	no_errors	NM_014871	genbank	human	validated	54_36p	missense	SNP	0.799	G
HAS1	3036	genome.wustl.edu	37	19	52216726	52216726	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:52216726C>T	ENST00000222115.1	-	5	1725	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	HAS1_ENST00000540069.2_Missense_Mutation_p.R563Q|HAS1_ENST00000601714.1_Missense_Mutation_p.R571Q	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	564					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCAAAGCCTCCGCACGCCCAC	0.721																																					NSCLC(132;636 2450 45807 47979)											0			19											11.0	13.0	12.0					19																	52216726		2162	4255	6417	56908538	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1691G>A	19.37:g.52216726C>T	ENSP00000222115:p.Arg564Gln		56908538	Q14470|Q9NS49	Missense_Mutation	SNP	superfamily_SSF53448,HMMPfam_Glycos_transf_2	p.R564Q	ENST00000222115.1	37	c.1691	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	c	13.72	2.320954	0.41096	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.30981	1.52;1.51	2.71	2.71	0.32032	.	0.000000	0.64402	U	0.000006	T	0.16428	0.0395	L	0.49126	1.545	0.39254	D	0.964094	P;P;P	0.38300	0.626;0.493;0.493	B;B;B	0.21360	0.034;0.015;0.015	T	0.06427	-1.0827	10	0.13108	T	0.6	-16.625	5.6303	0.17506	0.0:0.848:0.0:0.152	.	563;564;563	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	Q	563;564	ENSP00000445021:R563Q;ENSP00000222115:R564Q	ENSP00000222115:R564Q	R	-	2	0	HAS1	56908538	0.997000	0.39634	0.998000	0.56505	0.624000	0.37722	3.557000	0.53741	1.820000	0.53075	0.174000	0.16983	CGG	-	NULL		0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	protein_coding	OTTHUMT00000466953.1	C	NM_001523		56908538	-1	no_errors	NM_001523	genbank	human	reviewed	54_36p	missense	SNP	0.938	T
DACT1	51339	genome.wustl.edu	37	14	59113364	59113364	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:59113364G>A	ENST00000335867.4	+	4	2047	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	DACT1_ENST00000556859.1_Missense_Mutation_p.D394N|DACT1_ENST00000395153.3_Missense_Mutation_p.D638N|DACT1_ENST00000541264.2_Missense_Mutation_p.D394N			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	675					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAAGCGAACTGACTACCGGCG	0.716																																																0			14											12.0	12.0	12.0					14																	59113364		2166	4249	6415	58183117	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2023G>A	14.37:g.59113364G>A	ENSP00000337439:p.Asp675Asn		58183117	A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.D675N	ENST00000335867.4	37	c.2023	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726601	0.69074	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.61274	0.83;0.83;0.12;0.12;0.83	5.53	4.62	0.57501	.	0.055349	0.64402	D	0.000002	T	0.74520	0.3727	M	0.70595	2.14	0.35941	D	0.8332	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81324	-0.0984	10	0.48119	T	0.1	-22.8918	15.566	0.76294	0.0:0.0:0.8609:0.1391	.	638;675	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	N	394;394;638;675;394	ENSP00000451598:D394N;ENSP00000378581:D394N;ENSP00000378582:D638N;ENSP00000337439:D675N;ENSP00000442850:D394N	ENSP00000337439:D675N	D	+	1	0	DACT1	58183117	1.000000	0.71417	0.032000	0.17829	0.790000	0.44656	5.755000	0.68750	1.290000	0.44636	0.563000	0.77884	GAC	-	NULL		0.716	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	protein_coding	OTTHUMT00000325515.1	G	NM_016651		58183117	+1	no_errors	NM_016651	genbank	human	validated	54_36p	missense	SNP	0.685	A
CSH1	1442	genome.wustl.edu	37	17	61972855	61972855	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:61972855T>C	ENST00000316193.8	-	4	575	c.434A>G	c.(433-435)gAa>gGa	p.E145G	CSH1_ENST00000329882.8_Missense_Mutation_p.E145G|CSH1_ENST00000453363.3_Intron	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	145						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TTGGATGCCTTCCTCTAGGTC	0.592									Russell-Silver syndrome																																							0			17											55.0	57.0	57.0					17																	61972855		2193	4298	6491	59326587	SO:0001583	missense	1442	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.434A>G	17.37:g.61972855T>C	ENSP00000316416:p.Glu145Gly		59326587	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	HMMPfam_Hormone_1,superfamily_4_helix_cytokine,PatternScan_SOMATOTROPIN_1	p.E145G	ENST00000316193.8	37	c.434	CCDS11649.1	17	.	.	.	.	.	.	.	.	.	.	t	12.33	1.905123	0.33628	.	.	ENSG00000136488	ENST00000329882;ENST00000316193	T;T	0.53857	0.6;0.6	2.56	2.56	0.30785	.	0.313257	0.34386	N	0.004008	T	0.75459	0.3852	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.78542	-0.2164	10	0.87932	D	0	.	8.5892	0.33677	0.0:0.0:0.0:1.0	.	145;145;95	A6NFB4;Q6PF11;P78451	.;.;.	G	145	ENSP00000333268:E145G;ENSP00000316416:E145G	ENSP00000316416:E145G	E	-	2	0	CSH1	59326587	0.998000	0.40836	0.998000	0.56505	0.014000	0.08584	2.771000	0.47670	1.167000	0.42706	0.260000	0.18958	GAA	-	HMMPfam_Hormone_1,superfamily_4_helix_cytokine		0.592	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH1	protein_coding	OTTHUMT00000416040.1	T	NM_001317		59326587	-1	no_errors	NM_022640	genbank	human	reviewed	54_36p	missense	SNP	0.994	C
GH1	2688	genome.wustl.edu	37	17	61994867	61994867	+	Splice_Site	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:61994867C>T	ENST00000323322.5	-	5	499		c.e5-1		GH1_ENST00000458650.2_Splice_Site|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Splice_Site|GH1_ENST00000351388.4_Splice_Site	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1						bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CTTCCAGCCTCTGCAAAGTGA	0.517																																																0			17											104.0	95.0	98.0					17																	61994867		2203	4298	6501	59348599	SO:0001630	splice_region_variant	2688			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.457-1G>A	17.37:g.61994867C>T			59348599	A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Splice_Site	SNP	-	e5-1	ENST00000323322.5	37	c.457-1	CCDS11653.1	17	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161805	0.38217	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	.	.	.	2.62	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2254	0.54457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GH1	59348599	1.000000	0.71417	0.980000	0.43619	0.714000	0.41099	4.945000	0.63568	1.470000	0.48102	0.298000	0.19748	.	-	-		0.517	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH1	protein_coding	OTTHUMT00000417708.1	C	NM_000515	Intron	59348599	-1	no_errors	NM_000515	genbank	human	reviewed	54_36p	splice_site	SNP	0.944	T
DIAPH3	81624	genome.wustl.edu	37	13	60545193	60545193	+	Silent	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:60545193A>C	ENST00000400324.4	-	16	1972	c.1752T>G	c.(1750-1752)ggT>ggG	p.G584G	DIAPH3_ENST00000400319.1_Silent_p.G514G|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Silent_p.G584G|DIAPH3_ENST00000400320.1_Silent_p.G538G|DIAPH3_ENST00000377908.2_Silent_p.G573G|DIAPH3_ENST00000400330.1_Silent_p.G584G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	584	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCACCCCTCCACCAGAAGGCA	0.597																																																0			13											23.0	29.0	27.0					13																	60545193		1917	4128	6045	59443194	SO:0001819	synonymous_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1752T>G	13.37:g.60545193A>C			59443194	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,PatternScan_RNASE_PANCREATIC,HMMPfam_Drf_DAD	p.G584	ENST00000400324.4	37	c.1752	CCDS41898.1	13																																																																																			-	NULL		0.597	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	protein_coding	OTTHUMT00000045166.3	A	NM_001042517		59443194	-1	no_errors	NM_001042517	genbank	human	validated	54_36p	silent	SNP	0.414	C
SNHG1	23642	genome.wustl.edu	37	11	62620079	62620079	+	RNA	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:62620079C>T	ENST00000384756.1	-	0	252				SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000365607.1_RNA	NR_000008.2				small nucleolar RNA host gene 1 (non-protein coding)																		CCCCCCAAACCCAGAAAGCTT	0.418																																																0			11																																								62376655			0			L36588		11q12.3	2013-07-02	2008-08-14		ENSG00000255717	ENSG00000255717		"""Long non-coding RNAs"", ""-"""	32688	non-coding RNA	RNA, long non-coding	"""U22 snoRNA host gene"", ""non-protein coding RNA 57"", ""long intergenic non-protein coding RNA 57"""	603222				8559254, 23801869	Standard	NR_003098		Approved	UHG, NCRNA00057, LINC00057	uc001nvt.3		OTTHUMG00000167743		11.37:g.62620079C>T			62376655		RNA	SNP	-	NULL	ENST00000384756.1	37	NULL		11																																																																																			-	-		0.418	SNHG1-208	KNOWN	basic	snoRNA	SNHG1	processed_transcript		C	NR_003098		62376655	-1	no_errors	NR_003098	genbank	human	provisional	54_36p	rna	SNP	0.004	T
NOX5	79400	genome.wustl.edu	37	15	69318908	69318908	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr15:69318908G>A	ENST00000388866.3	+	2	132	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	NOX5_ENST00000260364.5_Missense_Mutation_p.V13M|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.V31M|NOX5_ENST00000455873.3_Missense_Mutation_p.V24M|NOX5_ENST00000448182.3_Missense_Mutation_p.V13M	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTCCGGTGGGTGACTCAGCA	0.542																																																0			15											86.0	78.0	81.0					15																	69318908		2200	4298	6498	67105962	SO:0001583	missense	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.91G>A	15.37:g.69318908G>A	ENSP00000373518:p.Val31Met		67105962	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_Ferric_reduct,superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_8,superfamily_SSF52343,HMMPfam_NAD_binding_6	p.V13M	ENST00000388866.3	37	c.37	CCDS32276.2	15	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687689	0.68157	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T;T	0.68624	-0.34;-0.34;1.52;-0.34	3.19	3.19	0.36642	EF-hand-like domain (1);	0.000000	0.64402	D	0.000002	T	0.73753	0.3627	L	0.46157	1.445	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.998	D;P;D	0.65443	0.935;0.896;0.935	T	0.76777	-0.2834	10	0.66056	D	0.02	-15.0425	13.263	0.60117	0.0:0.0:1.0:0.0	.	24;31;31	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	M	24;13;31;31	ENSP00000416828:V24M;ENSP00000410887:V13M;ENSP00000373518:V31M;ENSP00000432440:V31M	ENSP00000373518:V31M	V	+	1	0	NOX5	67105962	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	5.781000	0.68964	1.509000	0.48786	0.195000	0.17529	GTG	-	superfamily_SSF47473		0.542	NOX5-003	KNOWN	basic|CCDS	protein_coding	NOX5	protein_coding	OTTHUMT00000257124.2	G	NM_024505		67105962	+1	no_errors	NM_024505	genbank	human	provisional	54_36p	missense	SNP	1.000	A
PLEK	5341	genome.wustl.edu	37	2	68613644	68613644	+	Silent	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr2:68613644C>A	ENST00000234313.7	+	5	662	c.483C>A	c.(481-483)gtC>gtA	p.V161V		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	161	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GTAACTGCGTCATTGATTGGC	0.532																																																0			2											111.0	95.0	100.0					2																	68613644		2203	4300	6503	68467148	SO:0001819	synonymous_variant	5341			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.483C>A	2.37:g.68613644C>A			68467148	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP	p.V161	ENST00000234313.7	37	c.483	CCDS1887.1	2																																																																																			-	superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP		0.532	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK	protein_coding	OTTHUMT00000251755.1	C	NM_002664		68467148	+1	no_errors	NM_002664	genbank	human	validated	54_36p	silent	SNP	0.957	A
SLC39A9	55334	genome.wustl.edu	37	14	69866157	69866157	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:69866157T>A	ENST00000336643.5	+	1	749	c.71T>A	c.(70-72)aTt>aAt	p.I24N	ERH_ENST00000216520.6_5'Flank|SLC39A9_ENST00000031146.4_Missense_Mutation_p.I24N|SLC39A9_ENST00000556605.1_Missense_Mutation_p.I24N|ERH_ENST00000555373.1_5'Flank|ERH_ENST00000557016.1_5'Flank|SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000557046.1_Missense_Mutation_p.I24N	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	24					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GCCGGAATCATTCCCTTGGCT	0.453																																																0			14											216.0	194.0	202.0					14																	69866157		2203	4300	6503	68935910	SO:0001583	missense	55334				CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.71T>A	14.37:g.69866157T>A	ENSP00000336887:p.Ile24Asn		68935910	G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	HMMPfam_Zip	p.I24N	ENST00000336643.5	37	c.71	CCDS9795.1	14	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522018	0.85600	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.69806	1.2;-0.43;0.66	5.61	5.61	0.85477	.	0.136638	0.64402	D	0.000004	D	0.82453	0.5040	M	0.86097	2.795	0.80722	D	1	P;D;D	0.56968	0.898;0.978;0.957	D;P;P	0.64321	0.924;0.714;0.635	D	0.85639	0.1275	10	0.87932	D	0	-10.833	15.469	0.75426	0.0:0.0:0.0:1.0	.	24;24;24	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	N	24	ENSP00000452385:I24N;ENSP00000336887:I24N;ENSP00000451833:I24N	ENSP00000031146:I24N	I	+	2	0	SLC39A9	68935910	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.246000	0.78247	2.147000	0.66899	0.533000	0.62120	ATT	-	HMMPfam_Zip		0.453	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	SLC39A9	protein_coding	OTTHUMT00000412446.1	T	NM_018375		68935910	+1	no_errors	NM_018375	genbank	human	validated	54_36p	missense	SNP	1.000	A
BDP1	55814	genome.wustl.edu	37	5	70820123	70820123	+	Silent	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr5:70820123T>G	ENST00000358731.4	+	25	6008	c.5745T>G	c.(5743-5745)tcT>tcG	p.S1915S	BDP1_ENST00000380675.2_Silent_p.S52S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1915					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACCTGTTTCTGCTCAGATTG	0.393																																																0			5											109.0	110.0	109.0					5																	70820123		1841	4082	5923	70855879	SO:0001819	synonymous_variant	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5745T>G	5.37:g.70820123T>G			70855879	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,PatternScan_DNA_LIGASE_A1	p.S1915	ENST00000358731.4	37	c.5745	CCDS43328.1	5																																																																																			-	NULL		0.393	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	protein_coding	OTTHUMT00000374681.2	T	NM_018429		70855879	+1	no_errors	NM_018429	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
POM121	9883	genome.wustl.edu	37	7	72410439	72410439	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:72410439G>A	ENST00000434423.2	+	8	1495	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	POM121_ENST00000358357.3_Missense_Mutation_p.G234S|POM121_ENST00000446813.1_Missense_Mutation_p.G234S|POM121_ENST00000257622.4_Missense_Mutation_p.G234S|POM121_ENST00000395270.1_Missense_Mutation_p.G234S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	499	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GTCTACACCTGGCAGCTCTGG	0.512																																																0			7											29.0	32.0	31.0					7																	72410439		2055	4217	6272	72048375	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1495G>A	7.37:g.72410439G>A	ENSP00000405562:p.Gly499Ser		72048375	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.G234S	ENST00000434423.2	37	c.700		7	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653433	0.29425	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	3.34	2.44	0.29823	.	0.000000	0.36002	U	0.002858	T	0.17450	0.0419	L	0.59436	1.845	0.38120	D	0.937813	P;P	0.40638	0.639;0.725	B;P	0.46718	0.28;0.525	T	0.07868	-1.0750	10	0.23891	T	0.37	.	8.1366	0.31058	0.1179:0.0:0.8821:0.0	.	234;499	A8MXF9;Q96HA1	.;P121A_HUMAN	S	234;234;234;234;499	ENSP00000393020:G234S;ENSP00000257622:G234S;ENSP00000378687:G234S;ENSP00000351124:G234S;ENSP00000405562:G499S	ENSP00000257622:G234S	G	+	1	0	POM121	72048375	0.998000	0.40836	0.972000	0.41901	0.127000	0.20565	3.112000	0.50368	0.735000	0.32537	0.391000	0.25812	GGC	-	NULL		0.512	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	protein_coding	OTTHUMT00000347344.1	G			72048375	+1	no_errors	NM_172020	genbank	human	reviewed	54_36p	missense	SNP	0.940	A
ELN	2006	genome.wustl.edu	37	7	73456945	73456945	+	Splice_Site	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:73456945G>C	ENST00000252034.7	+	6	633	c.234G>C	c.(232-234)ggG>ggC	p.G78G	ELN_ENST00000380575.4_Splice_Site_p.G68G|ELN_ENST00000380562.4_Splice_Site_p.G78G|ELN_ENST00000380576.5_Splice_Site_p.G78G|ELN_ENST00000320399.6_Splice_Site_p.G78G|ELN_ENST00000320492.7_Splice_Site_p.G66G|ELN_ENST00000458204.1_Splice_Site_p.G68G|ELN_ENST00000380553.4_Intron|ELN_ENST00000357036.5_Splice_Site_p.G78G|ELN_ENST00000380584.4_Splice_Site_p.G78G|ELN_ENST00000414324.1_Splice_Site_p.G68G|ELN_ENST00000429192.1_Splice_Site_p.G78G|ELN_ENST00000445912.1_Splice_Site_p.G78G|ELN_ENST00000358929.4_Splice_Site_p.G78G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	78					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCTCCGCAGGGCTCGGCGCCT	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																Dom	yes		7	7q11.23	2006	elastin	yes	L	0			7											62.0	62.0	62.0					7																	73456945		2203	4300	6503	73094881	SO:0001630	splice_region_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.233-1G>C	7.37:g.73456945G>C			73094881	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	PatternScan_ENDONUCLEASE_III_2,PatternScan_HEXAPEP_TRANSFERASES	p.G78	ENST00000252034.7	37	c.234	CCDS5562.2	7																																																																																			-	NULL		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	protein_coding	OTTHUMT00000316913.1	G	NM_000501	Silent	73094881	+1	no_errors	NM_000501	genbank	human	reviewed	54_36p	silent	SNP	0.369	C
UCP3	7352	genome.wustl.edu	37	11	73715551	73715551	+	Silent	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:73715551C>G	ENST00000314032.4	-	5	1173	c.621G>C	c.(619-621)ctG>ctC	p.L207L	UCP3_ENST00000426995.2_Silent_p.L207L|UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	207					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GGTAGTCCAGCAGCTTCTCCT	0.597																																																0			11											146.0	109.0	122.0					11																	73715551		2200	4293	6493	73393199	SO:0001819	synonymous_variant	7352			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.621G>C	11.37:g.73715551C>G			73393199	O60475|Q96HL3	Silent	SNP	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr	p.L207	ENST00000314032.4	37	c.621	CCDS8229.1	11																																																																																			-	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr		0.597	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	protein_coding	OTTHUMT00000398200.1	C	NM_003356		73393199	-1	no_errors	NM_003356	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
RPS6KL1	83694	genome.wustl.edu	37	14	75378025	75378025	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:75378025A>C	ENST00000555647.1	-	7	877	c.590T>G	c.(589-591)gTc>gGc	p.V197G	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.V197G|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.V197G|RPS6KL1_ENST00000554900.1_5'Flank|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.V166G			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CATGTAGGGGACTCCGTGTGG	0.632																																																0			14											125.0	111.0	116.0					14																	75378025		2203	4300	6503	74447778	SO:0001583	missense	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.590T>G	14.37:g.75378025A>C	ENSP00000452027:p.Val197Gly		74447778	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	HMMSmart_MIT,HMMPfam_MIT,superfamily_Kinase_like,HMMPfam_Pkinase	p.V166G	ENST00000555647.1	37	c.497	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293441	0.60086	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000553789;ENST00000557413;ENST00000358328	T;T;T;T;T	0.30448	3.21;3.21;1.53;3.21;3.21	5.51	5.51	0.81932	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063522	0.64402	D	0.000007	T	0.58609	0.2134	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.79108	0.982;0.992;0.952	T	0.64706	-0.6344	10	0.87932	D	0	-16.6209	15.6239	0.76833	1.0:0.0:0.0:0.0	.	197;197;166	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	G	197;166;7;197;197	ENSP00000452027:V197G;ENSP00000346644:V166G;ENSP00000450846:V7G;ENSP00000450567:V197G;ENSP00000351086:V197G	ENSP00000346644:V166G	V	-	2	0	RPS6KL1	74447778	1.000000	0.71417	0.244000	0.24202	0.034000	0.12701	9.051000	0.93849	2.091000	0.63221	0.459000	0.35465	GTC	-	superfamily_Kinase_like		0.632	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	protein_coding	OTTHUMT00000413732.1	A			74447778	-1	no_errors	NM_031464	genbank	human	validated	54_36p	missense	SNP	0.996	C
ANGEL1	23357	genome.wustl.edu	37	14	77273065	77273065	+	Silent	SNP	T	T	G	rs375759642		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:77273065T>G	ENST00000251089.2	-	5	1186	c.1074A>C	c.(1072-1074)ctA>ctC	p.L358L	ANGEL1_ENST00000554941.1_5'Flank|ANGEL1_ENST00000557179.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	358										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCCGATTAAGTAGCTCCAAGC	0.567																																																0			14											127.0	134.0	132.0					14																	77273065		2203	4300	6503	76342818	SO:0001819	synonymous_variant	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1074A>C	14.37:g.77273065T>G			76342818	B4DWL7|O94859|Q8NCS9	Silent	SNP	HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos	p.L358	ENST00000251089.2	37	c.1074	CCDS9852.1	14																																																																																			-	HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos		0.567	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	protein_coding	OTTHUMT00000413712.2	T	NM_015305		76342818	-1	no_errors	NM_015305	genbank	human	validated	54_36p	silent	SNP	0.997	G
PAK1	5058	genome.wustl.edu	37	11	77066712	77066712	+	Splice_Site	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:77066712C>A	ENST00000356341.3	-	7	1304		c.e7+1		PAK1_ENST00000278568.4_Splice_Site|PAK1_ENST00000528203.1_Splice_Site|PAK1_ENST00000530617.1_Splice_Site|PAK1_ENST00000525542.1_Intron	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1						actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AAATTCCTTACGTAATTTCTC	0.448																																																0			11											214.0	207.0	209.0					11																	77066712		2200	4292	6492	76744360	SO:0001630	splice_region_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.772+1G>T	11.37:g.77066712C>A			76744360	O75561|Q13567|Q32M53|Q32M54|Q86W79	Splice_Site	SNP	-	e6+1	ENST00000356341.3	37	c.772+1	CCDS8250.1	11	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999923	0.74818	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7793	0.91925	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAK1	76744360	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.397000	0.73239	2.769000	0.95229	0.491000	0.48974	.	-	-		0.448	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	protein_coding	OTTHUMT00000382083.2	C	NM_002576	Intron	76744360	-1	no_errors	NM_002576	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
NARF	26502	genome.wustl.edu	37	17	80443501	80443501	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:80443501A>C	ENST00000309794.11	+	10	1298	c.1100A>C	c.(1099-1101)cAc>cCc	p.H367P	NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000345415.7_Missense_Mutation_p.H319P|NARF_ENST00000457415.3_Missense_Mutation_p.H413P|NARF_ENST00000390006.4_Missense_Mutation_p.H308P	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	367						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTCCCATTCCACTTTGTGGAG	0.572																																																0			17											118.0	103.0	108.0					17																	80443501		2203	4300	6503	78036790	SO:0001583	missense	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1100A>C	17.37:g.80443501A>C	ENSP00000309899:p.His367Pro		78036790	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_lg_C,HMMPfam_Fe_hyd_SSU	p.H367P	ENST00000309794.11	37	c.1100	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	10.46	1.357216	0.24598	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.45276	0.9;0.9;0.9	5.32	5.32	0.75619	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.046604	0.85682	D	0.000000	T	0.62048	0.2396	M	0.92691	3.335	0.80722	D	1	B;P;B;B	0.37038	0.05;0.579;0.062;0.022	B;P;B;B	0.44359	0.099;0.447;0.159;0.093	T	0.71027	-0.4711	10	0.87932	D	0	-10.0663	14.4494	0.67374	1.0:0.0:0.0:0.0	.	413;319;414;367	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	P	308;414;367;319	ENSP00000374656:H308P;ENSP00000309899:H367P;ENSP00000283996:H319P	ENSP00000309899:H367P	H	+	2	0	NARF	78036790	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	8.764000	0.91719	2.006000	0.58801	0.459000	0.35465	CAC	-	superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_lg_C		0.572	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	protein_coding	OTTHUMT00000443573.2	A	NM_031968		78036790	+1	no_errors	NM_012336	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
AKAP13	11214	genome.wustl.edu	37	15	86123496	86123496	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr15:86123496C>G	ENST00000394518.2	+	7	2292	c.2197C>G	c.(2197-2199)Cct>Gct	p.P733A	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.P733A	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	733					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGATTTTTGTCCTTTCAAAGT	0.463																																					Melanoma(94;603 1453 3280 32295 32951)											0			15											65.0	65.0	65.0					15																	86123496		2202	4299	6501	83924500	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2197C>G	15.37:g.86123496C>G	ENSP00000378026:p.Pro733Ala		83924500	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	superfamily_ANK,HMMPfam_RII_binding_1,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_EF_HAND_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH	p.P733A	ENST00000394518.2	37	c.2197	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642417	0.29246	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10288	2.89;2.9	5.88	0.28	0.15682	.	.	.	.	.	T	0.08935	0.0221	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.29988	0.172;0.264	B;B	0.33454	0.079;0.164	T	0.35325	-0.9793	9	0.49607	T	0.09	.	8.8102	0.34963	0.0:0.5616:0.0:0.4384	.	733;733	Q12802;Q12802-2	AKP13_HUMAN;.	A	733;733;732;732	ENSP00000354718:P733A;ENSP00000378026:P733A	ENSP00000354718:P733A	P	+	1	0	AKAP13	83924500	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.149000	0.16243	0.130000	0.18549	-0.768000	0.03414	CCT	-	NULL		0.463	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	protein_coding	OTTHUMT00000417318.1	C	NM_007200		83924500	+1	no_errors	NM_006738	genbank	human	reviewed	54_36p	missense	SNP	0.000	G
ABCB4	5244	genome.wustl.edu	37	7	87069035	87069035	+	Missense_Mutation	SNP	G	G	A	rs185760690		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:87069035G>A	ENST00000265723.4	-	14	1790	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	ABCB4_ENST00000358400.3_Missense_Mutation_p.T560M|ABCB4_ENST00000359206.3_Missense_Mutation_p.T560M|ABCB4_ENST00000545634.1_Missense_Mutation_p.T560M|ABCB4_ENST00000453593.1_Missense_Mutation_p.T560M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	560	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CAATGCTGACGTGGCCTCATC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		16739	0.0		0.001	False		,,,				2504	0.0															0			7											151.0	133.0	139.0					7																	87069035		2203	4300	6503	86906971	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1679C>T	7.37:g.87069035G>A	ENSP00000265723:p.Thr560Met		86906971	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.T560M	ENST00000265723.4	37	c.1679	CCDS5606.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.7	4.443651	0.83993	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.55	4.67	0.58626	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95657	0.8712	10	0.87932	D	0	-13.1352	14.1929	0.65649	0.0719:0.0:0.9281:0.0	.	560;560;560	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	M	560	ENSP00000352135:T560M;ENSP00000351172:T560M;ENSP00000265723:T560M;ENSP00000392983:T560M;ENSP00000437465:T560M	ENSP00000265723:T560M	T	-	2	0	ABCB4	86906971	1.000000	0.71417	0.866000	0.34008	0.980000	0.70556	6.782000	0.75073	1.334000	0.45468	0.655000	0.94253	ACG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran		0.542	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	protein_coding	OTTHUMT00000336083.1	G	NM_000443		86906971	-1	no_errors	NM_018849	genbank	human	reviewed	54_36p	missense	SNP	0.996	A
SHC3	53358	genome.wustl.edu	37	9	91690117	91690117	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr9:91690117G>A	ENST00000375835.4	-	4	942	c.636C>T	c.(634-636)atC>atT	p.I212I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	212	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCTTTCCCAAGATGCTGGACA	0.488																																																0			9											146.0	131.0	136.0					9																	91690117		2203	4300	6503	90879937	SO:0001819	synonymous_variant	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.636C>T	9.37:g.91690117G>A			90879937	Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2	p.I212	ENST00000375835.4	37	c.636	CCDS6681.1	9																																																																																			-	superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID		0.488	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC3	protein_coding	OTTHUMT00000052986.1	G	NM_016848		90879937	-1	no_errors	NM_016848	genbank	human	validated	54_36p	silent	SNP	1.000	A
SLC24A4	123041	genome.wustl.edu	37	14	92915421	92915421	+	Silent	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:92915421C>T	ENST00000532405.1	+	10	967	c.741C>T	c.(739-741)taC>taT	p.Y247Y	SLC24A4_ENST00000531433.1_Silent_p.Y247Y|SLC24A4_ENST00000393265.2_Silent_p.Y183Y|SLC24A4_ENST00000298877.1_Silent_p.Y230Y|SLC24A4_ENST00000351924.5_Silent_p.Y230Y			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	247					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTTCCAGGTACAATGTGAAGA	0.537																																					NSCLC(10;315 435 10383 28450 38798)											0			14											90.0	77.0	82.0					14																	92915421		2203	4300	6503	91985174	SO:0001819	synonymous_variant	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.741C>T	14.37:g.92915421C>T			91985174	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	HMMPfam_Na_Ca_ex	p.Y230	ENST00000532405.1	37	c.690	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935746	0.18206	.	.	ENSG00000140090	ENST00000525557	.	.	.	5.24	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5904	0.39543	0.0:0.8446:0.0:0.1554	.	.	.	.	X	132	.	.	Q	+	1	0	SLC24A4	91985174	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.388000	0.44398	2.436000	0.82500	0.561000	0.74099	CAA	-	NULL		0.537	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	protein_coding	OTTHUMT00000395240.1	C	NM_153646		91985174	+1	no_errors	NM_153646	genbank	human	validated	54_36p	silent	SNP	1.000	T
DIAPH2	1730	genome.wustl.edu	37	X	96013249	96013249	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chrX:96013249G>T	ENST00000324765.8	+	4	786	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	DIAPH2_ENST00000373054.4_Missense_Mutation_p.A136S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A147S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A147S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A147S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	147	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTCTGCCACTGCCAAATCTGT	0.388																																																0			X											93.0	77.0	83.0					X																	96013249		2203	4300	6503	95899905	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.439G>T	X.37:g.96013249G>T	ENSP00000321348:p.Ala147Ser		95899905	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,HMMPfam_Drf_DAD	p.A147S	ENST00000324765.8	37	c.439	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	6.364	0.435252	0.12045	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.73	1.78	0.24846	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.567841	0.17771	N	0.162583	T	0.67449	0.2894	N	0.02011	-0.69	0.34125	D	0.664608	B;B;P	0.39094	0.169;0.047;0.659	B;B;B	0.38921	0.177;0.029;0.285	T	0.70073	-0.4972	10	0.02654	T	1	.	8.8048	0.34932	0.0696:0.0:0.5511:0.3794	.	147;147;147	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	S	147;136;147;147;147;147	ENSP00000362152:A147S;ENSP00000362145:A136S;ENSP00000348082:A147S;ENSP00000362140:A147S;ENSP00000321348:A147S	ENSP00000321348:A147S	A	+	1	0	DIAPH2	95899905	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	2.475000	0.45162	-0.081000	0.12662	0.600000	0.82982	GCC	-	HMMPfam_Drf_GBD		0.388	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	protein_coding	OTTHUMT00000058871.2	G	NM_006729, NM_007309		95899905	+1	no_errors	NM_006729	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CYP3A43	64816	genome.wustl.edu	37	7	99459331	99459331	+	Silent	SNP	G	G	C	rs201421130		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:99459331G>C	ENST00000354829.2	+	11	1225	c.1122G>C	c.(1120-1122)acG>acC	p.T374T	CYP3A43_ENST00000417625.1_Silent_p.T264T|CYP3A43_ENST00000444905.1_Silent_p.T121T|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Silent_p.T234T|CYP3A43_ENST00000415413.1_Silent_p.T163T|CYP3A43_ENST00000312017.5_Silent_p.T374T|CYP3A43_ENST00000222382.5_Silent_p.T374T	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	374			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GTAGAGTTACGAGAGTCTGCA	0.453																																																0			7						G	,,	0,4406		0,0,2203	118.0	105.0	109.0		1122,1122,1122	-1.6	0.0	7		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CYP3A43	NM_022820.3,NM_057095.1,NM_057096.2	,,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,	374/505,374/504,374/421	99459331	1,13005	2203	4300	6503	99297267	SO:0001819	synonymous_variant	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1122G>C	7.37:g.99459331G>C			99297267	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.T374	ENST00000354829.2	37	c.1122	CCDS5676.1	7																																																																																			-	HMMPfam_p450,superfamily_Cytochrome P450		0.453	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	protein_coding	OTTHUMT00000344379.1	G			99297267	+1	no_errors	NM_022820	genbank	human	reviewed	54_36p	silent	SNP	0.986	C
LRCH4	4034	genome.wustl.edu	37	7	100174627	100174627	+	Splice_Site	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:100174627C>T	ENST00000310300.6	-	13	1418	c.1366G>A	c.(1366-1368)Ggc>Agc	p.G456S	LRCH4_ENST00000497245.1_Splice_Site_p.G4S	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	456					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTAGGCGAGCCGCTGAGGAGA	0.632																																																0			7											60.0	56.0	58.0					7																	100174627		2203	4299	6502	100012563	SO:0001630	splice_region_variant	4034			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1365-1G>A	7.37:g.100174627C>T			100012563	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMPfam_CH,superfamily_Calponin-homology,HMMSmart_CH	p.G456S	ENST00000310300.6	37	c.1366	CCDS34706.1	7	.	.	.	.	.	.	.	.	.	.	C	2.369	-0.344899	0.05208	.	.	ENSG00000077454	ENST00000310300;ENST00000497245	T;T	0.49720	1.48;0.77	4.03	0.127	0.14727	.	0.590562	0.16528	N	0.210482	T	0.25005	0.0607	N	0.20986	0.625	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.22695	-1.0209	10	0.08837	T	0.75	-7.0035	6.5848	0.22614	0.0:0.5846:0.0:0.4154	.	456	O75427	LRCH4_HUMAN	S	456;4	ENSP00000309689:G456S;ENSP00000419870:G4S	ENSP00000309689:G456S	G	-	1	0	LRCH4	100012563	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.613000	0.05610	0.129000	0.18514	-0.272000	0.10252	GGC	-	NULL		0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	protein_coding	OTTHUMT00000356110.1	C	NM_002319	Missense_Mutation	100012563	-1	no_errors	NM_002319	genbank	human	reviewed	54_36p	missense	SNP	0.032	T
ZAN	7455	genome.wustl.edu	37	7	100369562	100369562	+	RNA	SNP	C	C	T	rs200480489		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:100369562C>T	ENST00000348028.3	+	0	5509				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCACAGCCCTGTGCCGCTC	0.652																																																0			7											47.0	51.0	50.0					7																	100369562		2144	4233	6377	100207498			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369562C>T			100207498	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Serine proterase inhibitors,HMMPfam_TIL,PatternScan_EGF_2,HMMSmart_SM00215,HMMPfam_TIL_assoc,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,HMMSmart_SM00181,HMMSmart_SM00214,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1	p.L1782	ENST00000348028.3	37	c.5344		7																																																																																			-	HMMPfam_C8		0.652	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100207498	+1	no_errors	ENST00000349350	ensembl	human	known	54_36p	silent	SNP	0.862	T
MAP4K4	9448	genome.wustl.edu	37	2	102490591	102490591	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr2:102490591C>T	ENST00000347699.4	+	23	2683	c.2683C>T	c.(2683-2685)Cct>Tct	p.P895S	MAP4K4_ENST00000350198.4_Missense_Mutation_p.P814S|MAP4K4_ENST00000413150.2_Missense_Mutation_p.P810S|MAP4K4_ENST00000350878.4_Missense_Mutation_p.P935S|MAP4K4_ENST00000324219.4_Missense_Mutation_p.P976S|MAP4K4_ENST00000425019.1_Missense_Mutation_p.P928S|MAP4K4_ENST00000302217.5_Missense_Mutation_p.P698S|MAP4K4_ENST00000456652.1_Missense_Mutation_p.P694S	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	895	Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGCAAGATCCTACCCGGAA	0.438																																																0			2											109.0	108.0	109.0					2																	102490591		1936	4133	6069	101857023	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2683C>T	2.37:g.102490591C>T	ENSP00000314363:p.Pro895Ser		101857023	O75172|Q9NST7	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00036,HMMPfam_CNH	p.P976S	ENST00000347699.4	37	c.2926	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.96|13.96	2.391501|2.391501	0.42410|0.42410	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.73897|.	-0.74;-0.66;-0.65;-0.16;-0.67;-0.16;-0.67;-0.79;-0.71|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60996|0.60996	0.2312|0.2312	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D;D;B;B;D;D;B;D;D;P|.	0.67145|.	0.993;0.993;0.034;0.178;0.996;0.986;0.118;0.996;0.961;0.584|.	D;D;B;B;D;P;B;D;P;P|.	0.75484|.	0.979;0.968;0.053;0.28;0.986;0.844;0.092;0.986;0.786;0.502|.	T|T	0.56329|0.56329	-0.7997|-0.7997	10|5	0.21540|.	T|.	0.41|.	.|.	18.7789|18.7789	0.91924|0.91924	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	935;891;694;698;813;895;928;814;867;976|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	S|F	928;976;814;698;810;694;895;826;935|711	ENSP00000392830:P928S;ENSP00000313644:P976S;ENSP00000281111:P814S;ENSP00000303600:P698S;ENSP00000389752:P810S;ENSP00000387370:P694S;ENSP00000314363:P895S;ENSP00000409720:P826S;ENSP00000343658:P935S|.	ENSP00000303600:P698S|.	P|S	+|+	1|2	0|0	MAP4K4|MAP4K4	101857023|101857023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.582000|5.582000	0.67477|0.67477	2.435000|2.435000	0.82474|0.82474	0.655000|0.655000	0.94253|0.94253	CCT|TCC	-	NULL		0.438	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	protein_coding	OTTHUMT00000339839.1	C	NM_004834		101857023	+1	no_errors	NM_145686	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
POLR3B	55703	genome.wustl.edu	37	12	106838353	106838353	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:106838353G>A	ENST00000228347.4	+	19	2290	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	POLR3B_ENST00000539066.1_Missense_Mutation_p.G632R	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	690					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGTGCCATGGGGAAACAAGC	0.438																																																0			12											131.0	103.0	113.0					12																	106838353		2203	4300	6503	105362483	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2068G>A	12.37:g.106838353G>A	ENSP00000228347:p.Gly690Arg		105362483	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7	p.G690R	ENST00000228347.4	37	c.2068	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	G	30	5.055400	0.93793	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.78595	-1.19;-1.19	5.38	5.38	0.77491	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95767	0.8805	10	0.87932	D	0	-4.0804	19.1333	0.93415	0.0:0.0:1.0:0.0	.	690	Q9NW08	RPC2_HUMAN	R	690;632	ENSP00000228347:G690R;ENSP00000445721:G632R	ENSP00000228347:G690R	G	+	1	0	POLR3B	105362483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.532000	0.85374	0.650000	0.86243	GGG	-	superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_6		0.438	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	protein_coding	OTTHUMT00000407166.1	G	NM_018082		105362483	+1	no_errors	NM_018082	genbank	human	provisional	54_36p	missense	SNP	1.000	A
SLC26A3	1811	genome.wustl.edu	37	7	107423751	107423751	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:107423751C>T	ENST00000340010.5	-	9	1202	c.1018G>A	c.(1018-1020)Gta>Ata	p.V340I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V305I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	340					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCTCCTACGGTGTTTTGG	0.418																																																0			7											87.0	85.0	86.0					7																	107423751		2203	4300	6503	107210987	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1018G>A	7.37:g.107423751C>T	ENSP00000345873:p.Val340Ile		107210987		Missense_Mutation	SNP	PatternScan_SLC26A,HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS	p.V340I	ENST00000340010.5	37	c.1018	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	T	2.337	-0.352052	0.05173	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92699	-3.09;-3.09	5.28	5.28	0.74379	Sulphate transporter (1);	0.146062	0.64402	N	0.000011	T	0.74589	0.3736	N	0.02685	-0.53	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.62909	-0.6754	10	0.02654	T	1	.	4.587	0.12287	0.1336:0.2153:0.0:0.6511	.	305;340	G5E9U3;P40879	.;S26A3_HUMAN	I	305;340	ENSP00000415817:V305I;ENSP00000345873:V340I	ENSP00000345873:V340I	V	-	1	0	SLC26A3	107210987	0.016000	0.18221	0.905000	0.35620	0.099000	0.18886	0.293000	0.19029	0.947000	0.37659	-0.254000	0.11334	GTA	-	HMMPfam_Sulfate_transp		0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107210987	-1	no_errors	NM_000111	genbank	human	reviewed	54_36p	missense	SNP	0.004	T
COL4A2	1284	genome.wustl.edu	37	13	110960451	110960451	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:110960451T>C	ENST00000360467.5	+	3	386	c.80T>C	c.(79-81)cTc>cCc	p.L27P	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	27					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGGGGTTCCTCGCCCAGAGC	0.642																																																0			13											68.0	78.0	74.0					13																	110960451		2058	4182	6240	109758452	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.80T>C	13.37:g.110960451T>C	ENSP00000353654:p.Leu27Pro		109758452	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	HMMPfam_Collagen,HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold	p.L27P	ENST00000360467.5	37	c.80	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361506	0.24684	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.92149	-2.98;-2.87	3.95	3.95	0.45737	.	0.000000	0.26742	U	0.022740	D	0.89529	0.6741	N	0.19112	0.55	0.30803	N	0.739685	D	0.64830	0.994	P	0.58520	0.84	D	0.86254	0.1651	10	0.34782	T	0.22	.	9.3926	0.38383	0.0:0.0:0.0:1.0	.	27	P08572	CO4A2_HUMAN	P	27	ENSP00000383027:L27P;ENSP00000353654:L27P	ENSP00000257309:L27P	L	+	2	0	COL4A2	109758452	0.767000	0.28508	0.676000	0.29932	0.238000	0.25445	3.040000	0.49799	1.771000	0.52183	0.454000	0.30748	CTC	-	NULL		0.642	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	protein_coding	OTTHUMT00000045761.2	T	NM_001846		109758452	+1	no_errors	NM_001846	genbank	human	reviewed	54_36p	missense	SNP	0.050	C
MORC1	27136	genome.wustl.edu	37	3	108688541	108688541	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr3:108688541T>G	ENST00000483760.1	-	25	2559	c.2516A>C	c.(2515-2517)aAa>aCa	p.K839T	MORC1_ENST00000232603.5_Missense_Mutation_p.K860T					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCAGCTTTTTGTTCATCTG	0.358																																																0			3											129.0	117.0	121.0					3																	108688541		2203	4300	6503	110171231	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2516A>C	3.37:g.108688541T>G	ENSP00000417282:p.Lys839Thr		110171231		Missense_Mutation	SNP	superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMPfam_zf-CW	p.K860T	ENST00000483760.1	37	c.2579		3	.	.	.	.	.	.	.	.	.	.	T	11.76	1.733277	0.30684	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.09073	3.02;3.07	5.12	1.21	0.21127	.	0.709603	0.12798	N	0.438232	T	0.05731	0.0150	L	0.27053	0.805	0.25390	N	0.98854	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.01	T	0.36261	-0.9755	10	0.52906	T	0.07	-8.0184	4.375	0.11267	0.0:0.1798:0.1696:0.6506	.	839;860	E7ERX1;Q86VD1	.;MORC1_HUMAN	T	860;839	ENSP00000232603:K860T;ENSP00000417282:K839T	ENSP00000232603:K860T	K	-	2	0	MORC1	110171231	0.972000	0.33761	0.821000	0.32701	0.616000	0.37450	0.674000	0.25218	0.119000	0.18210	0.528000	0.53228	AAA	-	NULL		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	protein_coding	OTTHUMT00000353844.1	T			110171231	-1	no_errors	NM_014429	genbank	human	reviewed	54_36p	missense	SNP	0.834	G
HECTD4	283450	genome.wustl.edu	37	12	112681535	112681535	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:112681535G>A	ENST00000430131.2	-	30	4559	c.3414C>T	c.(3412-3414)agC>agT	p.S1138S	HECTD4_ENST00000550722.1_Silent_p.S1414S|HECTD4_ENST00000377560.5_Silent_p.S1388S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1138					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGTAAAGGAGCTGCTGCGGT	0.562																																																0			12											62.0	69.0	66.0					12																	112681535		2197	4295	6492	111165918	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3414C>T	12.37:g.112681535G>A			111165918	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.S1138	ENST00000430131.2	37	c.3414		12																																																																																			-	NULL		0.562	HECTD4-202	KNOWN	basic	protein_coding	C12orf51	protein_coding		G	NM_173813		111165918	-1	no_errors	NM_001109662	genbank	human	validated	54_36p	silent	SNP	1.000	A
SVEP1	79987	genome.wustl.edu	37	9	113169816	113169816	+	Silent	SNP	T	T	C	rs116159392	byFrequency	TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr9:113169816T>C	ENST00000401783.2	-	38	8400	c.8064A>G	c.(8062-8064)ggA>ggG	p.G2688G	SVEP1_ENST00000297826.5_Silent_p.G614G|SVEP1_ENST00000374469.1_Silent_p.G2665G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2688	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAGTTCATATCCTGGATTAC	0.453													T|||	207	0.0413339	0.149	0.0144	5008	,	,		22581	0.0		0.0	False		,,,				2504	0.0															0			9						T		461,3353		27,407,1473	169.0	166.0	167.0		8064	-6.8	0.9	9	dbSNP_132	167	5,8265		0,5,4130	no	coding-synonymous	SVEP1	NM_153366.3		27,412,5603	CC,CT,TT		0.0605,12.087,3.8563		2688/3572	113169816	466,11618	1907	4135	6042	112209637	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8064A>G	9.37:g.113169816T>C			112209637	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Growth factor receptor domain,PatternScan_EGF_2,HMMPfam_GCC2_GCC3,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_HYR,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Pentaxin,HMMPfam_EGF_CA,HMMPfam_EGF_2	p.G2688	ENST00000401783.2	37	c.8064	CCDS48004.1	9																																																																																			-	HMMSmart_SM00032,HMMPfam_Sushi,superfamily_Complement control module/SCR domain		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		T			112209637	-1	no_errors	NM_153366	genbank	human	validated	54_36p	silent	SNP	0.899	C
SVEP1	79987	genome.wustl.edu	37	9	113170323	113170323	+	Silent	SNP	G	G	A	rs111722103	byFrequency	TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr9:113170323G>A	ENST00000401783.2	-	38	7893	c.7557C>T	c.(7555-7557)acC>acT	p.T2519T	SVEP1_ENST00000297826.5_Silent_p.T445T|SVEP1_ENST00000374469.1_Silent_p.T2496T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2519	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.			T -> I (in Ref. 6; CAD97901). {ECO:0000305}.	cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTAGGTAACGGTCTGTCCAT	0.488													G|||	154	0.0307508	0.1097	0.013	5008	,	,		21854	0.0		0.0	False		,,,				2504	0.0															0			9						G		334,3532		13,308,1612	49.0	48.0	49.0		7557	-1.3	0.0	9	dbSNP_132	49	5,8261		0,5,4128	no	coding-synonymous	SVEP1	NM_153366.3		13,313,5740	AA,AG,GG		0.0605,8.6394,2.7943		2519/3572	113170323	339,11793	1933	4133	6066	112210144	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7557C>T	9.37:g.113170323G>A			112210144	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Pentaxin,HMMSmart_SM00159,HMMSmart_SM00179,HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_HYR,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,superfamily_vWA-like,superfamily_EGF/Laminin	p.T2519	ENST00000401783.2	37	c.7557	CCDS48004.1	9																																																																																			-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		G			112210144	-1	no_errors	NM_153366	genbank	human	validated	54_36p	silent	SNP	0.289	A
SIDT2	51092	genome.wustl.edu	37	11	117052786	117052786	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:117052786C>G	ENST00000324225.4	+	4	1012	c.481C>G	c.(481-483)Cag>Gag	p.Q161E	SIDT2_ENST00000530948.1_Intron|SIDT2_ENST00000431081.2_Missense_Mutation_p.Q161E	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	161					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GACTGGGGAGCAGTTCAGCTT	0.592																																																0			11											42.0	44.0	43.0					11																	117052786		2201	4296	6497	116557996	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.481C>G	11.37:g.117052786C>G	ENSP00000314023:p.Gln161Glu		116557996	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.Q161E	ENST00000324225.4	37	c.481	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	C	3.530	-0.096032	0.07010	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842;ENST00000531353	T;T;T	0.15952	2.39;2.38;2.39	5.14	5.14	0.70334	.	0.574224	0.18245	N	0.147137	T	0.11623	0.0283	L	0.36672	1.1	0.24844	N	0.992445	B;B;B;B	0.16396	0.008;0.002;0.017;0.004	B;B;B;B	0.18871	0.023;0.004;0.019;0.017	T	0.36359	-0.9751	10	0.02654	T	1	-1.6453	10.3132	0.43721	0.1497:0.7056:0.1447:0.0	.	161;161;161;161	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	E	161;161;161;11;60	ENSP00000314023:Q161E;ENSP00000278951:Q161E;ENSP00000399635:Q161E	ENSP00000278951:Q161E	Q	+	1	0	SIDT2	116557996	0.988000	0.35896	1.000000	0.80357	0.979000	0.70002	2.622000	0.46427	2.676000	0.91093	0.561000	0.74099	CAG	-	NULL		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	protein_coding	OTTHUMT00000392836.1	C	NM_015996		116557996	+1	no_errors	NM_001040455	genbank	human	validated	54_36p	missense	SNP	0.803	G
FLNC	2318	genome.wustl.edu	37	7	128490478	128490478	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:128490478C>A	ENST00000325888.8	+	32	5600	c.5339C>A	c.(5338-5340)tCc>tAc	p.S1780Y	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S1747Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1780					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAATGGAGTCCATGCTGAGG	0.622																																																0			7											122.0	132.0	129.0					7																	128490478		2014	4181	6195	128277714	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5339C>A	7.37:g.128490478C>A	ENSP00000327145:p.Ser1780Tyr		128277714	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557	p.S1780Y	ENST00000325888.8	37	c.5339	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371021	0.82573	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86562	-2.04;-2.14	5.53	5.53	0.82687	Immunoglobulin E-set (1);	0.187010	0.47455	D	0.000235	D	0.88273	0.6392	L	0.34521	1.04	0.36844	D	0.887577	P;P	0.40107	0.531;0.703	B;P	0.53266	0.269;0.722	D	0.90909	0.4774	10	0.66056	D	0.02	.	15.7	0.77536	0.0:0.8628:0.1372:0.0	.	1747;1780	Q14315-2;Q14315	.;FLNC_HUMAN	Y	1780;1747	ENSP00000327145:S1780Y;ENSP00000344002:S1747Y	ENSP00000327145:S1780Y	S	+	2	0	FLNC	128277714	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.989000	0.70587	2.584000	0.87258	0.655000	0.94253	TCC	-	HMMSmart_SM00557		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	C			128277714	+1	no_errors	NM_001458	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ADAMTS8	11095	genome.wustl.edu	37	11	130289026	130289026	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:130289026G>A	ENST00000257359.6	-	2	1588	c.882C>T	c.(880-882)tgC>tgT	p.C294C		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	294	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCTGCCAGTTGCAGAAGTTAC	0.577																																																0			11											143.0	154.0	151.0					11																	130289026		2032	4185	6217	129794236	SO:0001819	synonymous_variant	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.882C>T	11.37:g.130289026G>A			129794236	Q9NZS0	Silent	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.C294	ENST00000257359.6	37	c.882	CCDS41732.1	11																																																																																			-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin"		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	protein_coding	OTTHUMT00000385636.1	G	NM_007037		129794236	-1	no_errors	NM_007037	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
TCERG1L	256536	genome.wustl.edu	37	10	132965097	132965097	+	Missense_Mutation	SNP	C	C	T	rs528779135		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr10:132965097C>T	ENST00000368642.4	-	5	993	c.908G>A	c.(907-909)cGg>cAg	p.R303Q		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	303										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTTCTGGGCCCGCAGCATCAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18245	0.0		0.0	False		,,,				2504	0.001															0			10											68.0	58.0	61.0					10																	132965097		2203	4300	6503	132855087	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.908G>A	10.37:g.132965097C>T	ENSP00000357631:p.Arg303Gln		132855087	Q5VWI2|Q86XM8	Missense_Mutation	SNP	PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,superfamily_FF,HMMSmart_FF,HMMPfam_FF	p.R303Q	ENST00000368642.4	37	c.908	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	C	9.996	1.232119	0.22626	.	.	ENSG00000176769	ENST00000368642	T	0.24538	1.85	2.4	-4.8	0.03190	.	0.872222	0.09666	N	0.771851	T	0.10594	0.0259	N	0.22421	0.69	0.09310	N	0.999999	P	0.38745	0.645	B	0.27262	0.078	T	0.14420	-1.0473	10	0.31617	T	0.26	-0.6135	6.3795	0.21525	0.0:0.5738:0.1862:0.24	.	303	Q5VWI1	TCRGL_HUMAN	Q	303	ENSP00000357631:R303Q	ENSP00000357631:R303Q	R	-	2	0	TCERG1L	132855087	0.002000	0.14202	0.007000	0.13788	0.023000	0.10783	-0.884000	0.04166	-1.312000	0.02306	-0.440000	0.05779	CGG	-	NULL		0.557	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	protein_coding	OTTHUMT00000091619.2	C	NM_174937		132855087	-1	no_errors	NM_174937	genbank	human	validated	54_36p	missense	SNP	0.009	T
FAM131B	9715	genome.wustl.edu	37	7	143055947	143055947	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:143055947C>T	ENST00000409408.1	-	4	2063	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	FAM131B_ENST00000409578.1_Missense_Mutation_p.G135S|FAM131B_ENST00000409346.1_Missense_Mutation_p.G119S|FAM131B_ENST00000443739.2_Missense_Mutation_p.G147S|FAM131B_ENST00000409222.3_Missense_Mutation_p.G119S			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	119										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCTTCTCGCCATCGCTGAGG	0.582																																																0			7											88.0	80.0	83.0					7																	143055947		2203	4299	6502	142766069	SO:0001583	missense	9715			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.355G>A	7.37:g.143055947C>T	ENSP00000387017:p.Gly119Ser		142766069	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	NULL	p.G119S	ENST00000409408.1	37	c.355	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441000	0.83993	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.26	5.26	0.73747	.	0.147367	0.64402	D	0.000013	T	0.72463	0.3463	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	0.987;1.0	P;D	0.70935	0.849;0.971	T	0.75560	-0.3275	10	0.72032	D	0.01	-16.1899	18.8528	0.92240	0.0:1.0:0.0:0.0	.	135;119	Q86XD5-2;Q86XD5	.;F131B_HUMAN	S	147;135;119;123;119;119	ENSP00000410603:G147S;ENSP00000386568:G135S;ENSP00000386984:G119S;ENSP00000387017:G119S;ENSP00000387147:G119S	ENSP00000387147:G119S	G	-	1	0	FAM131B	142766069	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.764000	0.68826	2.442000	0.82660	0.561000	0.74099	GGC	-	NULL		0.582	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	protein_coding	OTTHUMT00000328057.1	C	NM_014690		142766069	-1	no_errors	NM_001031690	genbank	human	validated	54_36p	missense	SNP	0.999	T
BAI1	575	genome.wustl.edu	37	8	143570739	143570739	+	Silent	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr8:143570739G>C	ENST00000517894.1	+	16	3465	c.2571G>C	c.(2569-2571)gtG>gtC	p.V857V	BAI1_ENST00000323289.5_Silent_p.V857V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	857					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGTGACTGTGAAACCCCCGC	0.597																																																0			8											103.0	113.0	110.0					8																	143570739		2049	4202	6251	143567741	SO:0001819	synonymous_variant	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2571G>C	8.37:g.143570739G>C			143567741		Silent	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2	p.V857	ENST00000517894.1	37	c.2571		8																																																																																			-	NULL		0.597	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143567741	+1	no_errors	NM_001702	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
NR3C2	4306	genome.wustl.edu	37	4	149357931	149357931	+	Missense_Mutation	SNP	G	G	A	rs576737645		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr4:149357931G>A	ENST00000358102.3	-	2	444	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	NR3C2_ENST00000512865.1_Missense_Mutation_p.R28C|NR3C2_ENST00000344721.4_Missense_Mutation_p.R28C|NR3C2_ENST00000355292.3_Missense_Mutation_p.R28C|NR3C2_ENST00000511528.1_Missense_Mutation_p.R28C	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	28	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGGGAAGAACGCTCCACAGCC	0.468																																					Melanoma(27;428 957 40335 51025 51111)											0			4											104.0	94.0	97.0					4																	149357931		2203	4300	6503	149577381	SO:0001583	missense	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.82C>T	4.37:g.149357931G>A	ENSP00000350815:p.Arg28Cys		149577381	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	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.R28C	ENST00000358102.3	37	c.82	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885922	0.17540	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.16;-2.18;-2.57	6.02	6.02	0.97574	.	0.881138	0.10157	N	0.708780	T	0.78698	0.4324	L	0.29908	0.895	0.22240	N	0.999261	D;B	0.56968	0.978;0.389	B;B	0.32805	0.153;0.083	T	0.69978	-0.4998	9	.	.	.	.	7.9153	0.29814	0.1854:0.0:0.8146:0.0	.	28;28	B0ZBF5;B0ZBF6	.;.	C	28	ENSP00000341390:R28C;ENSP00000347441:R28C;ENSP00000350815:R28C;ENSP00000423510:R28C;ENSP00000343907:R28C;ENSP00000421481:R28C	.	R	-	1	0	NR3C2	149577381	0.961000	0.32948	0.114000	0.21550	0.579000	0.36224	4.670000	0.61583	2.865000	0.98341	0.655000	0.94253	CGT	-	NULL		0.468	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	protein_coding	OTTHUMT00000364986.1	G			149577381	-1	no_errors	NM_000901	genbank	human	validated	54_36p	missense	SNP	0.847	A
FLG	2312	genome.wustl.edu	37	1	152275827	152275827	+	Silent	SNP	G	G	A	rs564072147		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:152275827G>A	ENST00000368799.1	-	3	11570	c.11535C>T	c.(11533-11535)tcC>tcT	p.S3845S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3845	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S3845S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCCTGGCCGGACTGTGAGT	0.587									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		19580	0.0		0.0	False		,,,				2504	0.001															2	Substitution - coding silent(2)	lung(1)|endometrium(1)	1											219.0	226.0	224.0					1																	152275827		2203	4300	6503	150542451	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11535C>T	1.37:g.152275827G>A			150542451	Q01720|Q5T583|Q9UC71	Silent	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin	p.S3845	ENST00000368799.1	37	c.11535	CCDS30860.1	1																																																																																			-	HMMPfam_Filaggrin		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016		150542451	-1	no_errors	NM_002016	genbank	human	provisional	54_36p	silent	SNP	0.000	A
L1CAM	3897	genome.wustl.edu	37	X	153130954	153130954	+	Splice_Site	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chrX:153130954A>C	ENST00000370060.1	-	21	2738	c.2549T>G	c.(2548-2550)gTg>gGg	p.V850G	L1CAM_ENST00000538883.1_Splice_Site_p.V852G|L1CAM_ENST00000361981.3_Splice_Site_p.V845G|L1CAM_ENST00000361699.4_Splice_Site_p.V850G|L1CAM_ENST00000370055.1_Splice_Site_p.V845G|L1CAM_ENST00000543994.1_Splice_Site_p.V852G|L1CAM_ENST00000370057.3_Splice_Site_p.V850G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	850	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTACGTCACCTGCACAAG	0.612																																																0			X											156.0	114.0	129.0					X																	153130954		2203	4300	6503	152784148	SO:0001630	splice_region_variant	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2548-1T>G	X.37:g.153130954A>C			152784148	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.V850G	ENST00000370060.1	37	c.2549	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559135	0.65538	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119574	0.34986	N	0.003522	D	0.84392	0.5462	M	0.93150	3.385	0.80722	D	1	D;D;D	0.62365	0.983;0.991;0.986	D;D;D	0.68353	0.928;0.947;0.957	D	0.87550	0.2464	10	0.87932	D	0	.	10.6519	0.45653	1.0:0.0:0.0:0.0	.	845;850;850	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	G	850;852;850;852;845;845;850	ENSP00000359077:V850G;ENSP00000438430:V852G;ENSP00000359074:V850G;ENSP00000439645:V852G;ENSP00000354712:V845G;ENSP00000359072:V845G;ENSP00000355380:V850G	ENSP00000355380:V850G	V	-	2	0	L1CAM	152784148	1.000000	0.71417	0.857000	0.33713	0.612000	0.37316	7.741000	0.84997	1.784000	0.52394	0.430000	0.28490	GTG	-	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	protein_coding	OTTHUMT00000061094.2	A	NM_024003	Missense_Mutation	152784148	-1	no_errors	NM_000425	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
HCN3	57657	genome.wustl.edu	37	1	155254346	155254346	+	Missense_Mutation	SNP	G	G	A	rs137875525		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:155254346G>A	ENST00000368358.3	+	4	895	c.887G>A	c.(886-888)cGc>cAc	p.R296H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	296					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGTGGGGCCGCCAGTATTCC	0.592																																																0			1						G	HIS/ARG	0,4406		0,0,2203	63.0	56.0	59.0		887	4.4	1.0	1	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	missense	HCN3	NM_020897.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	296/775	155254346	2,13004	2203	4300	6503	153520970	SO:0001583	missense	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.887G>A	1.37:g.155254346G>A	ENSP00000357342:p.Arg296His		153520970	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding	p.R296H	ENST00000368358.3	37	c.887	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512628	0.85389	0.0	2.33E-4	ENSG00000143630	ENST00000368358	D	0.97378	-4.36	5.35	4.42	0.53409	Ion transport (1);	0.000000	0.52532	D	0.000072	D	0.88658	0.6496	N	0.17723	0.515	0.36862	D	0.888488	B	0.23735	0.09	B	0.17979	0.02	D	0.86765	0.1969	10	0.66056	D	0.02	.	7.4983	0.27503	0.179:0.0:0.821:0.0	.	296	Q9P1Z3	HCN3_HUMAN	H	296	ENSP00000357342:R296H	ENSP00000357342:R296H	R	+	2	0	HCN3	153520970	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.183000	0.72002	2.653000	0.90120	0.557000	0.71058	CGC	-	superfamily_SSF81324,HMMPfam_Ion_trans		0.592	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	protein_coding	OTTHUMT00000087388.1	G	NM_020897		153520970	+1	no_errors	NM_020897	genbank	human	validated	54_36p	missense	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	185962417	185962417	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:185962417C>G	ENST00000271588.4	+	23	3710	c.3481C>G	c.(3481-3483)Cag>Gag	p.Q1161E	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q1161E|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1161	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGTGACTCAGGCTGTCAA	0.423																																																0			1											94.0	92.0	93.0					1																	185962417		2203	4299	6502	184229040	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3481C>G	1.37:g.185962417C>G	ENSP00000271588:p.Gln1161Glu		184229040	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2	p.Q1161E	ENST00000271588.4	37	c.3481	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583349	0.86748	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65916	-0.18;-0.18	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051969	0.85682	D	0.000000	T	0.62708	0.2450	N	0.12920	0.275	0.80722	D	1	D;D	0.65815	0.995;0.986	D;D	0.69307	0.914;0.963	T	0.53422	-0.8441	10	0.02654	T	1	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	545;1161	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	E	1161	ENSP00000271588:Q1161E;ENSP00000356462:Q1161E	ENSP00000271588:Q1161E	Q	+	1	0	HMCN1	184229040	1.000000	0.71417	0.994000	0.49952	0.802000	0.45316	5.329000	0.65892	2.885000	0.99019	0.655000	0.94253	CAG	-	HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	C	NM_031935		184229040	+1	no_errors	NM_031935	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
EPHA4	2043	genome.wustl.edu	37	2	222428537	222428537	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr2:222428537T>G	ENST00000281821.2	-	3	778	c.737A>C	c.(736-738)tAc>tCc	p.Y246S	EPHA4_ENST00000409854.1_Missense_Mutation_p.Y246S|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y195S|EPHA4_ENST00000409938.1_Missense_Mutation_p.Y246S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	246	Cys-rich.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCCCCACAGTACATTTTTGG	0.532																																																0			2											498.0	392.0	428.0					2																	222428537		2203	4300	6503	222136781	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.737A>C	2.37:g.222428537T>G	ENSP00000281821:p.Tyr246Ser		222136781	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2	p.Y246S	ENST00000281821.2	37	c.737	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598253	0.66332	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.57	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.92738	3.34	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.90351	0.4366	10	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	246	P54764	EPHA4_HUMAN	S	246;246;246;195	ENSP00000281821:Y246S;ENSP00000386276:Y246S;ENSP00000386829:Y246S;ENSP00000375923:Y195S	ENSP00000281821:Y246S	Y	-	2	0	EPHA4	222136781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TAC	-	NULL		0.532	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	protein_coding	OTTHUMT00000256836.3	T			222136781	-1	no_errors	NM_004438	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TRIM17	51127	genome.wustl.edu	37	1	228602478	228602478	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:228602478C>T	ENST00000366697.2	-	1	1252	c.296G>A	c.(295-297)tGc>tAc	p.C99Y	TRIM17_ENST00000456946.2_Missense_Mutation_p.C99Y|TRIM17_ENST00000366698.2_Missense_Mutation_p.C99Y|TRIM17_ENST00000295033.3_Missense_Mutation_p.C99Y			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	99					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GTGCTCCTGGCACAGGTCTTG	0.637																																																0			1											74.0	79.0	77.0					1																	228602478		2203	4300	6503	226669101	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.296G>A	1.37:g.228602478C>T	ENSP00000355658:p.Cys99Tyr		226669101	B4DVJ2|Q5VST8	Missense_Mutation	SNP	superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY	p.C99Y	ENST00000366697.2	37	c.296	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628495	0.46944	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	D;D;D;D;D;D	0.99080	-5.4;-5.4;-5.4;-5.4;-5.4;-5.4	4.82	4.82	0.62117	Zinc finger, B-box (3);	0.000000	0.45867	D	0.000321	D	0.99539	0.9835	H	0.98738	4.315	0.43724	D	0.996204	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98139	1.0435	10	0.87932	D	0	.	9.7415	0.40420	0.0:0.9034:0.0:0.0966	.	99;99	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	Y	99;99;99;99;72;99	ENSP00000355658:C99Y;ENSP00000355659:C99Y;ENSP00000295033:C99Y;ENSP00000403312:C99Y;ENSP00000430468:C72Y;ENSP00000347794:C99Y	ENSP00000295033:C99Y	C	-	2	0	TRIM17	226669101	1.000000	0.71417	0.994000	0.49952	0.061000	0.15899	7.085000	0.76875	2.607000	0.88179	0.655000	0.94253	TGC	-	superfamily_SSF57850,HMMPfam_zf-B_box,HMMSmart_BBOX		0.637	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	protein_coding	OTTHUMT00000096439.2	C	NM_016102		226669101	-1	no_errors	NM_001024940	genbank	human	reviewed	54_36p	missense	SNP	0.135	T
OR2T33	391195	genome.wustl.edu	37	1	248436566	248436566	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:248436566C>T	ENST00000318021.2	-	1	572	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R184L(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAAGCCAAACGCACCAGCAC	0.542																																																1	Substitution - Missense(1)	lung(1)	1											28.0	32.0	31.0					1																	248436566		2199	4285	6484	246503189	SO:0001583	missense	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.551G>A	1.37:g.248436566C>T	ENSP00000324687:p.Arg184His		246503189	B2RNN0	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R184H	ENST00000318021.2	37	c.551	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	4.301	0.055071	0.08291	.	.	ENSG00000177212	ENST00000318021	T	0.00137	8.68	1.86	-0.327	0.12694	GPCR, rhodopsin-like superfamily (1);	0.529203	0.14321	U	0.327030	T	0.00109	0.0003	L	0.41573	1.285	0.09310	N	1	B	0.27951	0.195	B	0.29524	0.103	T	0.23048	-1.0199	10	0.52906	T	0.07	.	3.0617	0.06201	0.0:0.2921:0.2326:0.4753	.	184	Q8NG76	O2T33_HUMAN	H	184	ENSP00000324687:R184H	ENSP00000324687:R184H	R	-	2	0	OR2T33	246503189	0.000000	0.05858	0.477000	0.27303	0.472000	0.32918	-1.912000	0.01582	-0.067000	0.12976	-0.450000	0.05554	CGT	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.542	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	protein_coding	OTTHUMT00000097354.1	C	NM_001004695		246503189	-1	no_errors	NM_001004695	genbank	human	provisional	54_36p	missense	SNP	0.001	T
