#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
C1orf112	55732	genome.wustl.edu	37	1	169770068	169770068	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr1:169770068C>A	ENST00000286031.6	+	3	722	c.22C>A	c.(22-24)Cac>Aac	p.H8N	C1orf112_ENST00000359326.4_Missense_Mutation_p.H8N|C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000456684.1_Missense_Mutation_p.H66N|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	8										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATATGAACCACCTGACATT	0.299																																						dbGAP											0													39.0	41.0	40.0					1																	169770068		2196	4273	6469	-	-	-	SO:0001583	missense	0			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.22C>A	1.37:g.169770068C>A	ENSP00000286031:p.His8Asn		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.H8N	ENST00000286031.6	37	c.22	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455700	0.43634	.	.	ENSG00000000460	ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.64803	0.94;-0.12;0.94	5.15	4.23	0.50019	.	0.266420	0.36303	N	0.002668	T	0.45716	0.1356	M	0.63428	1.95	0.80722	D	1	P;P	0.47604	0.898;0.898	B;B	0.41332	0.271;0.354	T	0.57165	-0.7858	10	0.66056	D	0.02	-0.8053	8.6756	0.34176	0.0:0.7665:0.1502:0.0833	.	8;66	Q9NSG2;B4DRP7	CA112_HUMAN;.	N	8;66;8	ENSP00000352276:H8N;ENSP00000415583:H66N;ENSP00000286031:H8N	ENSP00000286031:H8N	H	+	1	0	C1orf112	168036692	0.999000	0.42202	1.000000	0.80357	0.935000	0.57460	0.802000	0.27069	2.410000	0.81850	0.467000	0.42956	CAC	C1orf112	-	NULL	ENSG00000000460		0.299	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	43	0.00	0	C	NM_018186		169770068	169770068	+1	no_errors	ENST00000286031	ensembl	human	known	69_37n	missense	33	35.85	19	SNP	0.997	A
CCDC136	64753	genome.wustl.edu	37	7	128455958	128455958	+	Silent	SNP	C	C	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr7:128455958C>T	ENST00000297788.4	+	16	3703	c.3336C>T	c.(3334-3336)aaC>aaT	p.N1112N	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1112						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAGAAAATAACCCCCTCAGAC	0.493																																						dbGAP											0													64.0	68.0	67.0					7																	128455958		1920	4122	6042	-	-	-	SO:0001819	synonymous_variant	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3336C>T	7.37:g.128455958C>T			A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.T989I	ENST00000297788.4	37	c.2966	CCDS47704.1	7	.	.	.	.	.	.	.	.	.	.	C	1.440	-0.567821	0.03910	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.17	3.38	0.38709	.	.	.	.	.	T	0.57770	0.2076	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51348	-0.8717	4	.	.	.	-17.2621	8.0343	0.30482	0.0:0.8125:0.0:0.1875	.	.	.	.	I	989	.	.	T	+	2	0	CCDC136	128243194	0.508000	0.26154	0.980000	0.43619	0.222000	0.24845	0.403000	0.20982	0.575000	0.29434	-0.244000	0.11960	ACC	CCDC136	-	NULL	ENSG00000128596		0.493	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	73	0.00	0	C	NM_022742		128455958	128455958	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000494552	ensembl	human	novel	69_37n	missense	68	13.92	11	SNP	0.976	T
CFAP45	25790	genome.wustl.edu	37	1	159858227	159858227	+	Missense_Mutation	SNP	C	C	A	rs201664440		TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr1:159858227C>A	ENST00000368099.4	-	4	396	c.332G>T	c.(331-333)cGa>cTa	p.R111L	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.R26L	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCATTTGATTCGCTCAAACTC	0.527																																						dbGAP											0													91.0	88.0	89.0					1																	159858227		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000368099.4:c.332G>T	1.37:g.159858227C>A	ENSP00000357079:p.Arg111Leu			Missense_Mutation	SNP	NULL	p.R111L	ENST00000368099.4	37	c.332	CCDS30914.1	1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279379	0.59758	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.58358	0.34;0.47	5.35	5.35	0.76521	.	0.063251	0.64402	D	0.000004	T	0.66645	0.2810	M	0.75264	2.295	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.67313	-0.5702	9	.	.	.	-19.9548	16.5642	0.84574	0.0:1.0:0.0:0.0	.	111;111	A8K884;Q9UL16	.;CCD19_HUMAN	L	111;26	ENSP00000357079:R111L;ENSP00000403044:R26L	.	R	-	2	0	CCDC19	158124851	0.997000	0.39634	0.776000	0.31678	0.217000	0.24651	4.350000	0.59392	2.501000	0.84356	0.655000	0.94253	CGA	CCDC19	-	NULL	ENSG00000213085		0.527	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	55	0.00	0	C			159858227	159858227	-1	no_errors	ENST00000368099	ensembl	human	known	69_37n	missense	68	44.44	56	SNP	0.954	A
CDK3	1018	genome.wustl.edu	37	17	73998015	73998015	+	Silent	SNP	G	G	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr17:73998015G>A	ENST00000425876.2	+	2	265	c.177G>A	c.(175-177)aaG>aaA	p.K59K	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.K59K			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						AGGAACTGAAGCACCCCAACA	0.597																																						dbGAP											0													90.0	76.0	81.0					17																	73998015		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.177G>A	17.37:g.73998015G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K59	ENST00000425876.2	37	c.177	CCDS11736.1	17																																																																																			CDK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000250506		0.597	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK3	HGNC	protein_coding	OTTHUMT00000337389.2	49	0.00	0	G	NM_001258		73998015	73998015	+1	no_errors	ENST00000425876	ensembl	human	known	69_37n	silent	68	38.74	43	SNP	1.000	A
CNTNAP3B	728577	genome.wustl.edu	37	9	43876040	43876040	+	Missense_Mutation	SNP	C	C	A	rs62536540	byFrequency	TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr9:43876040C>A	ENST00000377564.3	+	14	2525	c.2132C>A	c.(2131-2133)tCc>tAc	p.S711Y		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	711	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						ACACACACTTCCTGGGGAGGT	0.453													c|||	2144	0.428115	0.3797	0.4323	5008	,	,		12033	0.5575		0.4563	False		,,,				2504	0.3282					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.2132C>A	9.37:g.43876040C>A	ENSP00000366787:p.Ser711Tyr		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S711Y	ENST00000377564.3	37	c.2132	CCDS55312.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.005|0.005	-2.125372|-2.125372	0.00342|0.00342	.|.	.|.	ENSG00000154529|ENSG00000154529	ENST00000377561|ENST00000377564;ENST00000341990	.|T	.|0.04083	.|3.71	2.5|2.5	2.5|2.5	0.30297|0.30297	.|.	.|.	.|.	.|.	.|.	T|T	0.00936|0.00936	0.0031|0.0031	N|N	0.00095|0.00095	-2.16|-2.16	0.19300|0.19300	N|N	0.999976|0.999976	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44081|0.44081	-0.9351|-0.9351	5|7	.|0.02654	.|T	.|1	.|.	7.8062|7.8062	0.29204|0.29204	0.7873:0.2127:0.0:0.0|0.7873:0.2127:0.0:0.0	.|.	.|.	.|.	.|.	T|Y	760|711	.|ENSP00000366787:S711Y	.|ENSP00000340890:S711Y	P|S	+|+	1|2	0|0	CNTNAP3B|CNTNAP3B	43816036|43816036	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.374000|0.374000	0.29953|0.29953	3.305000|3.305000	0.51873|0.51873	0.226000|0.226000	0.20979|0.20979	-2.210000|-2.210000	0.00300|0.00300	CCT|TCC	CNTNAP3B	-	NULL	ENSG00000154529		0.453	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	HGNC	protein_coding	OTTHUMT00000036930.3	26	0.00	0	C			43876040	43876040	+1	no_errors	ENST00000377564	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.997	A
CWC27	10283	genome.wustl.edu	37	5	64081367	64081367	+	Silent	SNP	C	C	T	rs373443413		TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr5:64081367C>T	ENST00000381070.3	+	5	673	c.456C>T	c.(454-456)gaC>gaT	p.D152D	CWC27_ENST00000508024.1_Silent_p.D152D	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	152	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.D152D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TTGATGATGACGAAAGACCAC	0.333																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											149.0	143.0	145.0					5																	64081367		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.456C>T	5.37:g.64081367C>T			O60529|O60530|Q96EM3	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.D152	ENST00000381070.3	37	c.456	CCDS3982.2	5																																																																																			CWC27	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000153015		0.333	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC27	HGNC	protein_coding	OTTHUMT00000157247.4	71	0.00	0	C	NM_005869		64081367	64081367	+1	no_errors	ENST00000381070	ensembl	human	known	69_37n	silent	90	12.62	13	SNP	0.588	T
DICER1	23405	genome.wustl.edu	37	14	95562728	95562728	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr14:95562728C>T	ENST00000526495.1	-	25	4820	c.4529G>A	c.(4528-4530)tGc>tAc	p.C1510Y	DICER1_ENST00000343455.3_Missense_Mutation_p.C1510Y|DICER1_ENST00000556045.1_Missense_Mutation_p.C408Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C1510Y|DICER1_ENST00000393063.1_Missense_Mutation_p.C1510Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C1510Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1510					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATCCAGATAGCACATTGCATC	0.428			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													dbGAP	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													86.0	84.0	84.0					14																	95562728		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4529G>A	14.37:g.95562728C>T	ENSP00000437256:p.Cys1510Tyr		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.C1510Y	ENST00000526495.1	37	c.4529	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068766	0.76301	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.90069	0.21;0.21;0.21;0.21;-2.61;0.5	5.74	5.74	0.90152	Ribonuclease III (3);	0.000000	0.85682	D	0.000000	D	0.93736	0.7998	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.998	D	0.93212	0.6601	10	0.59425	D	0.04	-22.1328	20.2825	0.98528	0.0:1.0:0.0:0.0	.	408;1510;1510	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	Y	1510;1510;1510;1510;408;1510	ENSP00000343745:C1510Y;ENSP00000437256:C1510Y;ENSP00000376783:C1510Y;ENSP00000435681:C1510Y;ENSP00000451041:C408Y;ENSP00000444719:C1510Y	ENSP00000343745:C1510Y	C	-	2	0	DICER1	94632481	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.414000	0.80117	2.873000	0.98535	0.561000	0.74099	TGC	DICER1	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom	ENSG00000100697		0.428	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	42	0.00	0	C			95562728	95562728	-1	no_errors	ENST00000343455	ensembl	human	known	69_37n	missense	53	43.62	41	SNP	1.000	T
DMRTB1	63948	genome.wustl.edu	37	1	53927225	53927225	+	Silent	SNP	G	G	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr1:53927225G>A	ENST00000371445.3	+	2	712	c.657G>A	c.(655-657)ccG>ccA	p.P219P	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	219	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCTACTGCCCGTTCCCGCTGG	0.657																																						dbGAP											0													92.0	79.0	84.0					1																	53927225		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.657G>A	1.37:g.53927225G>A			Q96SD2	Silent	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.P219	ENST00000371445.3	37	c.657	CCDS581.1	1																																																																																			DMRTB1	-	NULL	ENSG00000143006		0.657	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTB1	HGNC	protein_coding	OTTHUMT00000022110.1	27	0.00	0	G			53927225	53927225	+1	no_errors	ENST00000371445	ensembl	human	known	69_37n	silent	42	27.59	16	SNP	0.000	A
EXOSC7	23016	genome.wustl.edu	37	3	45030632	45030632	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr3:45030632G>A	ENST00000265564.7	+	2	106	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	20					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		TAACACCTAGGAAGACCTCCG	0.498																																						dbGAP											0													161.0	139.0	147.0					3																	45030632		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.58-1G>A	3.37:g.45030632G>A			Q96E72	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.E20K	ENST00000265564.7	37	c.58	CCDS2725.1	3	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496990	0.85069	.	.	ENSG00000075914	ENST00000265564	T	0.46819	0.86	5.96	5.96	0.96718	.	0.094735	0.64402	D	0.000001	T	0.37461	0.1004	N	0.25201	0.72	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12528	-1.0544	9	.	.	.	-19.9115	20.017	0.97481	0.0:0.0:1.0:0.0	.	20	Q15024	EXOS7_HUMAN	K	20	ENSP00000265564:E20K	.	E	+	1	0	EXOSC7	45005636	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.541000	0.98083	2.832000	0.97577	0.655000	0.94253	GAA	EXOSC7	-	NULL	ENSG00000075914		0.498	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC7	HGNC	protein_coding	OTTHUMT00000256754.2	132	0.00	0	G	NM_015004	Missense_Mutation	45030632	45030632	+1	no_errors	ENST00000265564	ensembl	human	known	69_37n	missense	187	10.90	23	SNP	1.000	A
FAM122B	159090	genome.wustl.edu	37	X	133923130	133923130	+	Silent	SNP	A	A	G			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chrX:133923130A>G	ENST00000370790.1	-	4	1189	c.261T>C	c.(259-261)gaT>gaC	p.D87D	FAM122B_ENST00000486347.1_Silent_p.D87D|FAM122B_ENST00000298090.6_Silent_p.D106D|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Silent_p.D106D	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	87										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TCAAGCTCTCATCCCATGATT	0.388																																						dbGAP											0													119.0	92.0	101.0					X																	133923130		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.261T>C	X.37:g.133923130A>G			A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Silent	SNP	NULL	p.D106	ENST00000370790.1	37	c.318	CCDS55497.1	X																																																																																			FAM122B	-	NULL	ENSG00000156504		0.388	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1	85	0.00	0	A	NM_145284		133923130	133923130	-1	no_errors	ENST00000343004	ensembl	human	known	69_37n	silent	91	46.78	80	SNP	1.000	G
FAM188B	84182	genome.wustl.edu	37	7	30876302	30876302	+	Silent	SNP	A	A	G			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr7:30876302A>G	ENST00000265299.6	+	7	1238	c.1161A>G	c.(1159-1161)gaA>gaG	p.E387E	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	387										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATAAGGGAAGAGGTCATCC	0.478																																						dbGAP											0													196.0	193.0	194.0					7																	30876302		2106	4229	6335	-	-	-	SO:0001819	synonymous_variant	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1161A>G	7.37:g.30876302A>G			Q71AZ7|Q9H6D2	Silent	SNP	NULL	p.E387	ENST00000265299.6	37	c.1161	CCDS43565.1	7																																																																																			FAM188B	-	NULL	ENSG00000106125		0.478	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	107	0.00	0	A	NM_032222		30876302	30876302	+1	no_errors	ENST00000265299	ensembl	human	known	69_37n	silent	122	39.60	80	SNP	0.988	G
FURIN	5045	genome.wustl.edu	37	15	91422703	91422703	+	Silent	SNP	G	G	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr15:91422703G>A	ENST00000268171.3	+	10	1362	c.1083G>A	c.(1081-1083)acG>acA	p.T361T		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	361	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGAAGTGCACGGAGTCTCACA	0.627																																						dbGAP											0													59.0	59.0	59.0					15																	91422703		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1083G>A	15.37:g.91422703G>A			Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.T361	ENST00000268171.3	37	c.1083	CCDS10364.1	15																																																																																			FURIN	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53	ENSG00000140564		0.627	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FURIN	HGNC	protein_coding	OTTHUMT00000313492.1	26	0.00	0	G	NM_002569		91422703	91422703	+1	no_errors	ENST00000268171	ensembl	human	known	69_37n	silent	24	44.19	19	SNP	0.481	A
GBP1	2633	genome.wustl.edu	37	1	89524918	89524918	+	Intron	SNP	C	C	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr1:89524918C>T	ENST00000370473.4	-	4	648					NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTTGATTCATCAGGATTCACA	0.443																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.428+81G>A	1.37:g.89524918C>T			D3DT26|Q5T8M1	RNA	SNP	-	NULL	ENST00000370473.4	37	NULL	CCDS718.1	1																																																																																			GBP1	-	-	ENSG00000117228		0.443	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	71	0.00	0	C	NM_002053		89524918	89524918	-1	no_errors	ENST00000493139	ensembl	human	known	69_37n	rna	66	34.65	35	SNP	0.000	T
HEG1	57493	genome.wustl.edu	37	3	124739694	124739694	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr3:124739694T>G	ENST00000311127.4	-	4	1261	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	398					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTGTGGATGGTTCAATGAATT	0.418																																						dbGAP											0													87.0	88.0	88.0					3																	124739694		1894	4115	6009	-	-	-	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1194A>C	3.37:g.124739694T>G	ENSP00000311502:p.Glu398Asp		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.E398D	ENST00000311127.4	37	c.1194	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	T	9.488	1.100051	0.20552	.	.	ENSG00000173706	ENST00000311127	T	0.44482	0.92	4.74	1.61	0.23674	.	.	.	.	.	T	0.48169	0.1485	M	0.62723	1.935	0.09310	N	1	P;P	0.49961	0.93;0.884	P;P	0.52646	0.705;0.511	T	0.35325	-0.9793	9	0.72032	D	0.01	.	6.5653	0.22509	0.0:0.6478:0.0:0.3522	.	398;398	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	D	398	ENSP00000311502:E398D	ENSP00000311502:E398D	E	-	3	2	HEG1	126222384	0.001000	0.12720	0.042000	0.18584	0.021000	0.10359	-0.931000	0.03967	0.119000	0.18210	-0.242000	0.12053	GAA	HEG1	-	NULL	ENSG00000173706		0.418	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	63	0.00	0	T	XM_087386		124739694	124739694	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	missense	101	18.55	23	SNP	0.075	G
IRF7	3665	genome.wustl.edu	37	11	615281	615281	+	Intron	SNP	G	G	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr11:615281G>A	ENST00000397574.2	-	3	390				IRF7_ENST00000397562.3_Intron|IRF7_ENST00000348655.6_Intron|IRF7_ENST00000397570.1_Intron|IRF7_ENST00000397566.1_Missense_Mutation_p.S13F|IRF7_ENST00000330243.5_Missense_Mutation_p.S13F|IRF7_ENST00000525445.1_Intron	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7						cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCCGCGGAGAGTCAGGGCC	0.692																																						dbGAP											0													6.0	8.0	7.0					11																	615281		2112	4189	6301	-	-	-	SO:0001627	intron_variant	0			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.21-22C>T	11.37:g.615281G>A			B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.S13F	ENST00000397574.2	37	c.38	CCDS7703.1	11	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384519	0.25031	.	.	ENSG00000185507	ENST00000397566;ENST00000330243	D;D	0.96168	-3.93;-3.93	1.75	-3.49	0.04724	.	48.322000	0.00166	N	0.000001	D	0.86439	0.5933	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.79818	-0.1643	9	.	.	.	2.2684	2.3965	0.04391	0.3395:0.0:0.4303:0.2302	.	13	Q92985-4	.	F	13	ENSP00000380697:S13F;ENSP00000329411:S13F	.	S	-	2	0	IRF7	605281	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.102000	0.10956	-1.154000	0.02825	-0.221000	0.12465	TCT	IRF7	-	NULL	ENSG00000185507		0.692	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	8	0.00	0	G	NM_001572		615281	615281	-1	no_errors	ENST00000330243	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.000	A
KLC2	64837	genome.wustl.edu	37	11	66033219	66033219	+	Silent	SNP	C	C	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr11:66033219C>T	ENST00000417856.1	+	12	1671	c.1428C>T	c.(1426-1428)agC>agT	p.S476S	KLC2_ENST00000394065.2_Silent_p.S337S|KLC2_ENST00000316924.5_Silent_p.S476S|RP11-867G23.1_ENST00000530805.1_RNA|RAB1B_ENST00000311481.6_5'Flank|RAB1B_ENST00000527397.1_5'Flank|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000421552.1_Silent_p.S399S|KLC2_ENST00000394067.2_Silent_p.S476S|KLC2_ENST00000394066.2_Silent_p.S399S	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	476					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACTGTGCCAGCCGTAACCGCA	0.667																																						dbGAP											0													31.0	29.0	30.0					11																	66033219		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1428C>T	11.37:g.66033219C>T			A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.S476	ENST00000417856.1	37	c.1428	CCDS8130.1	11																																																																																			KLC2	-	NULL	ENSG00000174996		0.667	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	13	0.00	0	C	NM_022822		66033219	66033219	+1	no_errors	ENST00000316924	ensembl	human	known	69_37n	silent	25	25.71	9	SNP	0.992	T
MAGED1	9500	genome.wustl.edu	37	X	51638615	51638615	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chrX:51638615A>T	ENST00000375722.1	+	3	764	c.512A>T	c.(511-513)gAc>gTc	p.D171V	MAGED1_ENST00000326587.7_Missense_Mutation_p.D171V|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.D171V|MAGED1_ENST00000375695.2_Missense_Mutation_p.D227V			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	171					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AATGCCAATGACCTGGCCAAC	0.502										Multiple Myeloma(10;0.10)																												dbGAP											0													78.0	63.0	68.0					X																	51638615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.512A>T	X.37:g.51638615A>T	ENSP00000364874:p.Asp171Val		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.D227V	ENST00000375722.1	37	c.680	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	A	13.56	2.273128	0.40194	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695;ENST00000430189	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.04	4.04	0.47022	.	0.158467	0.29876	N	0.010972	T	0.33962	0.0881	N	0.08118	0	0.44061	D	0.996801	B;D;D	0.57899	0.096;0.981;0.963	B;P;B	0.50490	0.026;0.642;0.444	T	0.27054	-1.0085	10	0.66056	D	0.02	.	8.5228	0.33287	1.0:0.0:0.0:0.0	.	102;227;171	B4DQ04;Q9Y5V3-2;Q9Y5V3	.;.;MAGD1_HUMAN	V	171;171;171;227;102	ENSP00000364927:D171V;ENSP00000364874:D171V;ENSP00000325333:D171V;ENSP00000364847:D227V	ENSP00000325333:D171V	D	+	2	0	MAGED1	51655355	1.000000	0.71417	0.940000	0.37924	0.626000	0.37791	2.009000	0.40903	1.832000	0.53329	0.430000	0.28490	GAC	MAGED1	-	NULL	ENSG00000179222		0.502	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	66	0.00	0	A	NM_001005332		51638615	51638615	+1	no_errors	ENST00000375695	ensembl	human	known	69_37n	missense	109	11.90	15	SNP	0.939	T
LONRF3	79836	genome.wustl.edu	37	X	118140133	118140133	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chrX:118140133A>G	ENST00000371628.3	+	6	1496	c.1465A>G	c.(1465-1467)Aaa>Gaa	p.K489E	LONRF3_ENST00000422289.2_Missense_Mutation_p.K233E|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.K448E	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	489							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TTTTTGCTTAAAATGCCTAGA	0.353																																						dbGAP											0													216.0	200.0	205.0					X																	118140133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1465A>G	X.37:g.118140133A>G	ENSP00000360690:p.Lys489Glu		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.K489E	ENST00000371628.3	37	c.1465	CCDS35374.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.35|17.35	3.366684|3.366684	0.61513|0.61513	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	D;D;D;D|.	0.83506|.	-1.73;-1.73;-1.73;-1.73|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.125990|0.125990	0.53938|0.53938	D|D	0.000053|0.000053	T|T	0.36963|0.36963	0.0986|0.0986	N|N	0.05280|0.05280	-0.08|-0.08	0.42030|0.42030	D|D	0.99102|0.99102	P;B;P|.	0.46395|.	0.877;0.198;0.771|.	P;B;P|.	0.49953|.	0.627;0.343;0.579|.	T|T	0.35176|0.35176	-0.9799|-0.9799	10|6	0.24483|.	T|.	0.36|.	-24.5071|-24.5071	13.9895|13.9895	0.64357|0.64357	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	233;448;489|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	E|R	448;448;489;233|254	ENSP00000360691:K448E;ENSP00000307732:K448E;ENSP00000360690:K489E;ENSP00000408894:K233E|.	ENSP00000307732:K448E|.	K|K	+|+	1|2	0|0	LONRF3|LONRF3	118024161|118024161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	5.950000|5.950000	0.70265|0.70265	1.901000|1.901000	0.55032|0.55032	0.481000|0.481000	0.45027|0.45027	AAA|AAA	LONRF3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000175556		0.353	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	122	0.00	0	A	NM_024778		118140133	118140133	+1	no_errors	ENST00000371628	ensembl	human	known	69_37n	missense	153	35.15	84	SNP	1.000	G
MUC12	10071	genome.wustl.edu	37	7	100643088	100643088	+	Missense_Mutation	SNP	A	A	G	rs145334771		TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr7:100643088A>G	ENST00000379442.3	+	5	9673	c.9673A>G	c.(9673-9675)Atc>Gtc	p.I3225V	MUC12_ENST00000536621.1_Missense_Mutation_p.I3082V			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3225	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACGTCACCCATCAGTTCAGG	0.527																																						dbGAP											0													1.0	1.0	1.0					7																	100643088		296	744	1040	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.9673A>G	7.37:g.100643088A>G	ENSP00000368755:p.Ile3225Val		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.I3225V	ENST00000379442.3	37	c.9673		7	.	.	.	.	.	.	.	.	.	.	A	0.560	-0.845491	0.02671	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.10668	2.85;2.85	0.869	-1.74	0.08056	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.43343	-0.9397	7	0.10636	T	0.68	.	2.1609	0.03825	0.3953:0.3275:0.2772:0.0	.	.	.	.	V	3225;3082	ENSP00000368755:I3225V;ENSP00000441929:I3082V	ENSP00000368755:I3225V	I	+	1	0	MUC12	100429808	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.186000	0.16978	-0.940000	0.03705	0.163000	0.16589	ATC	MUC12	-	NULL	ENSG00000205277		0.527	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	32	0.00	0	A	XM_379904		100643088	100643088	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	0.000	G
NEB	4703	genome.wustl.edu	37	2	152483718	152483718	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr2:152483718T>C	ENST00000172853.10	-	66	9563	c.9416A>G	c.(9415-9417)aAc>aGc	p.N3139S	NEB_ENST00000604864.1_Splice_Site_p.N3382S|NEB_ENST00000427231.2_Splice_Site_p.N3382S|NEB_ENST00000603639.1_Splice_Site_p.N3382S|NEB_ENST00000397345.3_Splice_Site_p.N3382S|NEB_ENST00000409198.1_Splice_Site_p.N3139S			P20929	NEBU_HUMAN	nebulin	3139					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTGTAAATGTTCTGGAGAGA	0.383																																						dbGAP											0													77.0	73.0	74.0					2																	152483718		1880	4094	5974	-	-	-	SO:0001630	splice_region_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9415-1A>G	2.37:g.152483718T>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.N3382S	ENST00000172853.10	37	c.10145		2	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130108	0.37630	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.39	5.39	0.77823	.	0.097241	0.64402	D	0.000002	T	0.39572	0.1083	M	0.86740	2.835	0.80722	D	1	B	0.32604	0.377	B	0.32465	0.146	T	0.40270	-0.9572	10	0.46703	T	0.11	.	10.8834	0.46953	0.1404:0.0:0.0:0.8596	.	3139	P20929	NEBU_HUMAN	S	3139;3382;3382;3139	ENSP00000386259:N3139S;ENSP00000380505:N3382S;ENSP00000416578:N3382S;ENSP00000172853:N3139S	ENSP00000172853:N3139S	N	-	2	0	NEB	152191964	0.874000	0.30092	0.926000	0.36857	0.726000	0.41606	1.195000	0.32186	2.170000	0.68504	0.533000	0.62120	AAC	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		102	0.00	0	T	NM_004543	Missense_Mutation	152483718	152483718	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	108	28.48	43	SNP	0.958	C
OSBPL9	114883	genome.wustl.edu	37	1	52222005	52222005	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr1:52222005C>T	ENST00000428468.1	+	9	559	c.557C>T	c.(556-558)gCg>gTg	p.A186V	OSBPL9_ENST00000371710.3_Missense_Mutation_p.A204V|OSBPL9_ENST00000462759.1_Intron|OSBPL9_ENST00000337809.4_Intron|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000371714.1_Intron|OSBPL9_ENST00000435686.2_Missense_Mutation_p.A21V|OSBPL9_ENST00000530544.1_Intron|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000447887.1_Intron|OSBPL9_ENST00000453295.1_Missense_Mutation_p.A169V|OSBPL9_ENST00000361556.5_Intron|OSBPL9_ENST00000531828.1_Missense_Mutation_p.A21V			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	186					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CAGAGTAATGCGGAGAAGCAC	0.343																																						dbGAP											0													95.0	93.0	93.0					1																	52222005		1876	4101	5977	-	-	-	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.557C>T	1.37:g.52222005C>T	ENSP00000407168:p.Ala186Val		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A204V	ENST00000428468.1	37	c.611	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931666	0.52866	.	.	ENSG00000117859	ENST00000371710;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000527631;ENST00000531828;ENST00000481937	T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.7	3.68	0.42216	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.28148	N	0.92949	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39143	-0.9628	9	0.11182	T	0.66	.	9.0052	0.36106	0.2637:0.6529:0.0:0.0834	.	169;186	Q86YQ3;Q96SU4	.;OSBL9_HUMAN	V	204;21;186;169;21;21;21	ENSP00000360775:A204V;ENSP00000402646:A21V;ENSP00000407168:A186V;ENSP00000413263:A169V;ENSP00000435129:A21V;ENSP00000433083:A21V;ENSP00000435247:A21V	ENSP00000360775:A204V	A	+	2	0	OSBPL9	51994593	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.364000	0.52328	0.773000	0.33404	-1.151000	0.01829	GCG	OSBPL9	-	NULL	ENSG00000117859		0.343	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	78	0.00	0	C			52222005	52222005	+1	no_errors	ENST00000371710	ensembl	human	known	69_37n	missense	72	11.11	9	SNP	1.000	T
PCSK5	5125	genome.wustl.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G			F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R683G	ENST00000545128.1	37	c.2047	CCDS55320.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG	PCSK5	-	NULL	ENSG00000099139		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		11	0.00	0	C			78790192	78790192	+1	no_errors	ENST00000376767	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.006	G
PKD1	5310	genome.wustl.edu	37	16	2143858	2143858	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr16:2143858C>A	ENST00000262304.4	-	36	10983	c.10775G>T	c.(10774-10776)aGc>aTc	p.S3592I	RP11-304L19.1_ENST00000570072.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.S3591I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3592					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGCGCTGCTGGACAGGAG	0.687																																						dbGAP											0													16.0	20.0	19.0					16																	2143858		2157	4269	6426	-	-	-	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10775G>T	16.37:g.2143858C>A	ENSP00000262304:p.Ser3592Ile		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat	p.S3592I	ENST00000262304.4	37	c.10775	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750523	0.49257	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34472	1.36;1.36	3.98	3.98	0.46160	.	0.238434	0.41396	D	0.000884	T	0.54078	0.1836	M	0.65975	2.015	0.29847	N	0.828775	D;D	0.69078	0.996;0.997	D;P	0.65684	0.937;0.759	T	0.54022	-0.8355	10	0.19590	T	0.45	.	16.4351	0.83872	0.0:1.0:0.0:0.0	.	3591;3592	P98161-3;P98161	.;PKD1_HUMAN	I	3592;3591;2926	ENSP00000262304:S3592I;ENSP00000399501:S3591I	ENSP00000262304:S3592I	S	-	2	0	PKD1	2083859	1.000000	0.71417	0.986000	0.45419	0.011000	0.07611	5.531000	0.67148	1.951000	0.56629	0.511000	0.50034	AGC	PKD1	-	prints_PKD_1	ENSG00000008710		0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	23	0.00	0	C			2143858	2143858	-1	no_errors	ENST00000262304	ensembl	human	known	69_37n	missense	12	45.45	10	SNP	0.995	A
PPFIA1	8500	genome.wustl.edu	37	11	70224272	70224272	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr11:70224272C>T	ENST00000253925.7	+	26	3736	c.3521C>T	c.(3520-3522)tCt>tTt	p.S1174F	AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S1174F|AP000487.5_ENST00000524619.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1174					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCTTCCCCCTCTATGCAGCCA	0.473																																						dbGAP											0													134.0	119.0	124.0					11																	70224272		2200	4294	6494	-	-	-	SO:0001583	missense	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3521C>T	11.37:g.70224272C>T	ENSP00000253925:p.Ser1174Phe		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S1174F	ENST00000253925.7	37	c.3521	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452889	0.43531	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528853	T;T	0.19938	2.11;2.12	4.72	4.72	0.59763	.	0.000000	0.85682	U	0.000000	T	0.38480	0.1042	L	0.58101	1.795	0.58432	D	0.999999	P;B;P	0.52061	0.732;0.413;0.95	B;B;P	0.55455	0.25;0.127;0.776	T	0.30001	-0.9993	10	0.87932	D	0	.	17.6892	0.88265	0.0:1.0:0.0:0.0	.	671;1174;1174	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	F	1174;1174;671;30	ENSP00000253925:S1174F;ENSP00000374198:S1174F	ENSP00000253925:S1174F	S	+	2	0	PPFIA1	69901920	1.000000	0.71417	0.828000	0.32881	0.255000	0.26057	7.422000	0.80217	2.180000	0.69256	0.561000	0.74099	TCT	PPFIA1	-	NULL	ENSG00000131626		0.473	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	83	0.00	0	C	NM_003626		70224272	70224272	+1	no_errors	ENST00000253925	ensembl	human	known	69_37n	missense	347	13.68	55	SNP	1.000	T
PTEN	5728	genome.wustl.edu	37	10	89624272	89624273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr10:89624272_89624273insA	ENST00000371953.3	+	1	1403_1404	c.46_47insA	c.(46-48)tatfs	p.Y16fs	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	16	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.Y16fs*28(3)|p.Y16C(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.R15fs*28(1)|p.Y16fs*27(1)|p.R15fs*9(1)|p.Y16fs*21(1)|p.Y16fs*1(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAAGGAGATATCAAGAGGAT	0.475		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	64	Whole gene deletion(37)|Unknown(13)|Insertion - Frameshift(6)|Deletion - Frameshift(5)|Substitution - Missense(2)|Deletion - In frame(1)	central_nervous_system(14)|prostate(14)|endometrium(7)|skin(7)|lung(6)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|breast(3)|bone(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	GRCh37	CI077458	PTEN	I																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.47dupA	10.37:g.89624273_89624273dupA	ENSP00000361021:p.Tyr16fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y16fs	ENST00000371953.3	37	c.46_47	CCDS31238.1	10																																																																																			PTEN	-	pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.475	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	124	0.00	0	-	NM_000314		89624272	89624273	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_ins	39	68.29	84	INS	1.000:1.000	A
PTPRB	5787	genome.wustl.edu	37	12	70928673	70928673	+	Silent	SNP	C	C	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr12:70928673C>A	ENST00000261266.5	-	28	5519	c.5490G>T	c.(5488-5490)ctG>ctT	p.L1830L	RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Silent_p.L1740L|PTPRB_ENST00000550358.1_Silent_p.L1960L|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Silent_p.L1740L|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000538708.1_Silent_p.L1740L|PTPRB_ENST00000334414.6_Silent_p.L2048L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1830	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGCATCTGCAGGATGAGGT	0.502																																						dbGAP											0													73.0	71.0	72.0					12																	70928673		1960	4151	6111	-	-	-	SO:0001819	synonymous_variant	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5490G>T	12.37:g.70928673C>A			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L2048	ENST00000261266.5	37	c.6144	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000127329		0.502	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	31	0.00	0	C			70928673	70928673	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	silent	44	33.33	22	SNP	0.998	A
RAB1B	81876	genome.wustl.edu	37	11	66039643	66039643	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr11:66039643G>A	ENST00000311481.6	+	3	250	c.103G>A	c.(103-105)Gag>Aag	p.E35K	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Missense_Mutation_p.E35K	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	35					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CACGTACACAGAGAGCTACAT	0.527																																						dbGAP											0													220.0	211.0	214.0					11																	66039643		2200	4295	6495	-	-	-	SO:0001583	missense	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.103G>A	11.37:g.66039643G>A	ENSP00000310226:p.Glu35Lys		A8K7S1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E35K	ENST00000311481.6	37	c.103	CCDS31613.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133609	0.77662	.	.	ENSG00000174903	ENST00000311481;ENST00000527397;ENST00000314965;ENST00000394080	T;T	0.77620	-1.11;-1.11	3.99	3.99	0.46301	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.76891	0.4051	M	0.67569	2.06	0.80722	D	1	B	0.26975	0.165	B	0.32090	0.14	T	0.78638	-0.2126	10	0.62326	D	0.03	.	13.6096	0.62068	0.0:0.0:1.0:0.0	.	35	Q9H0U4	RAB1B_HUMAN	K	35	ENSP00000310226:E35K;ENSP00000435195:E35K	ENSP00000310226:E35K	E	+	1	0	RAB1B	65796219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.691000	0.84191	2.067000	0.61834	0.561000	0.74099	GAG	RAB1B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000174903		0.527	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1B	HGNC	protein_coding	OTTHUMT00000391886.2	48	0.00	0	G	NM_030981		66039643	66039643	+1	no_errors	ENST00000311481	ensembl	human	known	69_37n	missense	257	17.63	55	SNP	1.000	A
SCN8A	6334	genome.wustl.edu	37	12	52188168	52188168	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr12:52188168G>A	ENST00000354534.6	+	26	4716	c.4538G>A	c.(4537-4539)gGa>gAa	p.G1513E	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1472E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1513					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAAATCCAAGGAATCGTCTTT	0.428																																						dbGAP											0													127.0	122.0	124.0					12																	52188168		1980	4182	6162	-	-	-	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4538G>A	12.37:g.52188168G>A	ENSP00000346534:p.Gly1513Glu		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.G1513E	ENST00000354534.6	37	c.4538	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	g	25.3	4.622520	0.87460	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.96011	-3.88;-3.85;-3.68	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	M	0.91872	3.25	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.98883	1.0770	10	0.87932	D	0	.	18.8187	0.92088	0.0:0.0:1.0:0.0	.	1513	Q9UQD0	SCN8A_HUMAN	E	1513;1472;1472	ENSP00000346534:G1513E;ENSP00000440360:G1472E;ENSP00000347255:G1472E	ENSP00000346534:G1513E	G	+	2	0	SCN8A	50474435	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	9.613000	0.98350	2.760000	0.94817	0.645000	0.84053	GGA	SCN8A	-	NULL	ENSG00000196876		0.428	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	90	0.00	0	G	NM_014191		52188168	52188168	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	missense	106	36.53	61	SNP	1.000	A
SLC17A2	10246	genome.wustl.edu	37	6	25921519	25921520	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr6:25921519_25921520insT	ENST00000265425.3	-	3	381_382	c.361_362insA	c.(361-363)atgfs	p.M121fs	SLC17A2_ENST00000360488.3_Frame_Shift_Ins_p.M121fs|SLC17A2_ENST00000377850.3_Frame_Shift_Ins_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGCACCAAGCATTTTTTTTGCT	0.455																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.362dupA	6.37:g.25921527_25921527dupT	ENSP00000265425:p.Met121fs		A6NK81|A6NLD6|Q5TB84|Q76P85	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M121fs	ENST00000265425.3	37	c.362_361		6																																																																																			SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.455	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	91	0.00	0	-			25921519	25921520	-1	no_errors	ENST00000377850	ensembl	human	known	69_37n	frame_shift_ins	91	37.24	54	INS	0.956:0.558	T
SLC25A43	203427	genome.wustl.edu	37	X	118586830	118586830	+	Silent	SNP	A	A	C			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chrX:118586830A>C	ENST00000217909.7	+	5	1172	c.828A>C	c.(826-828)atA>atC	p.I276I	SLC25A43_ENST00000488158.1_Intron|SLC25A43_ENST00000336249.7_Missense_Mutation_p.S219R	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	276					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TTTAACAGATAGTTCCATATT	0.313																																						dbGAP											0													48.0	47.0	47.0					X																	118586830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.828A>C	X.37:g.118586830A>C			O75854|Q8N9L5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S219R	ENST00000217909.7	37	c.655	CCDS14577.1	X	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136848	0.37728	.	.	ENSG00000077713	ENST00000336249	T	0.78003	-1.14	5.13	3.92	0.45320	.	.	.	.	.	T	0.65883	0.2734	.	.	.	0.25207	N	0.99001	B	0.14805	0.011	B	0.15870	0.014	T	0.58329	-0.7655	8	0.72032	D	0.01	.	3.8356	0.08893	0.5385:0.0:0.0939:0.3676	.	219	B4E1P8	.	R	219	ENSP00000338628:S219R	ENSP00000338628:S219R	S	+	1	0	SLC25A43	118470858	0.996000	0.38824	1.000000	0.80357	0.905000	0.53344	0.410000	0.21098	0.575000	0.29434	0.486000	0.48141	AGT	SLC25A43	-	NULL	ENSG00000077713		0.313	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A43	HGNC	protein_coding	OTTHUMT00000058028.1	69	0.00	0	A	NM_145305		118586830	118586830	+1	no_errors	ENST00000336249	ensembl	human	known	69_37n	missense	66	14.29	11	SNP	0.999	C
SPATA13	221178	genome.wustl.edu	37	13	24860370	24860370	+	Missense_Mutation	SNP	G	G	T	rs372766436		TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr13:24860370G>T	ENST00000382095.4	+	5	852	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	SPATA13_ENST00000343003.6_Missense_Mutation_p.V93L|SPATA13_ENST00000409126.1_Missense_Mutation_p.V71L|SPATA13_ENST00000424834.2_Missense_Mutation_p.V774L|SPATA13_ENST00000399949.2_Missense_Mutation_p.V71L|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.V652L|SPATA13_ENST00000382108.3_Missense_Mutation_p.V774L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	149	ABR (APC-binding region) domain.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGATGGCAACGTGGTCTGCGC	0.582																																						dbGAP											0													128.0	118.0	121.0					13																	24860370		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.445G>T	13.37:g.24860370G>T	ENSP00000371527:p.Val149Leu		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V774L	ENST00000382095.4	37	c.2320	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.254579|2.254579	0.39896|0.39896	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083	.|D;D;D;D;D;D;D	.|0.82433	.|-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Src homology-3 domain (1);	.|0.250529	.|0.39475	.|N	.|0.001349	T|T	0.77445|0.77445	0.4131|0.4131	L|L	0.46741|0.46741	1.465|1.465	0.27006|0.27006	N|N	0.964801|0.964801	.|B;B;B;B;B;B	.|0.26445	.|0.019;0.149;0.033;0.149;0.086;0.052	.|B;B;B;B;B;B	.|0.28849	.|0.018;0.037;0.025;0.095;0.037;0.016	T|T	0.67110|0.67110	-0.5753|-0.5753	5|10	.|0.30854	.|T	.|0.27	.|.	11.2791|11.2791	0.49184|0.49184	0.0927:0.0:0.9073:0.0|0.0927:0.0:0.9073:0.0	.|.	.|71;93;95;95;71;149	.|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.|.;.;.;.;.;SPT13_HUMAN	L|L	811|774;149;109;95;71;71;93;93	.|ENSP00000371542:V774L;ENSP00000371527:V149L;ENSP00000401605:V109L;ENSP00000382830:V71L;ENSP00000386471:V71L;ENSP00000343631:V93L;ENSP00000397498:V93L	.|ENSP00000343631:V93L	R|V	+|+	2|1	0|0	SPATA13|SPATA13	23758370|23758370	0.964000|0.964000	0.33143|0.33143	0.994000|0.994000	0.49952|0.49952	0.368000|0.368000	0.29767|0.29767	2.102000|2.102000	0.41796|0.41796	2.462000|2.462000	0.83206|0.83206	0.655000|0.655000	0.94253|0.94253	CGT|GTG	SPATA13	-	superfamily_SH3_domain	ENSG00000182957		0.582	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	29	0.00	0	G	NM_153023		24860370	24860370	+1	no_errors	ENST00000382108	ensembl	human	known	69_37n	missense	9	69.70	23	SNP	0.962	T
TECTA	7007	genome.wustl.edu	37	11	120996488	120996488	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr11:120996488G>A	ENST00000392793.1	+	8	1952	c.1681G>A	c.(1681-1683)Ggc>Agc	p.G561S	TECTA_ENST00000264037.2_Missense_Mutation_p.G561S			O75443	TECTA_HUMAN	tectorin alpha	561					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGGACAATGGCACGCTCCT	0.577																																						dbGAP											0													97.0	88.0	91.0					11																	120996488		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1681G>A	11.37:g.120996488G>A	ENSP00000376543:p.Gly561Ser			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.G561S	ENST00000392793.1	37	c.1681	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760850	0.49468	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.75260	-0.92;-0.92	4.91	4.91	0.64330	Uncharacterised domain, cysteine-rich (2);	0.191183	0.47455	D	0.000240	T	0.67804	0.2932	N	0.25992	0.78	0.42186	D	0.991704	P	0.43231	0.801	P	0.46419	0.516	T	0.63506	-0.6622	10	0.09590	T	0.72	.	18.4676	0.90761	0.0:0.0:1.0:0.0	.	561	O75443	TECTA_HUMAN	S	561	ENSP00000376543:G561S;ENSP00000264037:G561S	ENSP00000264037:G561S	G	+	1	0	TECTA	120501698	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.230000	0.78097	2.453000	0.82957	0.563000	0.77884	GGC	TECTA	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000109927		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	41	0.00	0	G	NM_005422		120996488	120996488	+1	no_errors	ENST00000264037	ensembl	human	known	69_37n	missense	14	73.58	39	SNP	1.000	A
TRAF7	84231	genome.wustl.edu	37	16	2225153	2225153	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr16:2225153T>C	ENST00000326181.6	+	15	1518		c.e15+2			NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase						activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACCATCATTGTGAGTGGGGCC	0.637																																						dbGAP											0													97.0	94.0	95.0					16																	2225153		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1386+2T>C	16.37:g.2225153T>C			Q9H073	Splice_Site	SNP	-	e14+2	ENST00000326181.6	37	c.1386+2	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	T	11.60	1.686225	0.29962	.	.	ENSG00000131653	ENST00000326181	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2851	0.60239	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAF7	2165154	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.933000	0.63484	2.026000	0.59711	0.459000	0.35465	.	TRAF7	-	-	ENSG00000131653		0.637	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	70	0.00	0	T	NM_032271	Intron	2225153	2225153	+1	no_errors	ENST00000326181	ensembl	human	known	69_37n	splice_site	59	47.32	53	SNP	1.000	C
UBXN11	91544	genome.wustl.edu	37	1	26608890	26608891	+	Frame_Shift_Del	DEL	CC	CC	-	rs376181141		TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr1:26608890_26608891delCC	ENST00000374222.1	-	16	1926_1927	c.1462_1463delGG	c.(1462-1464)ggtfs	p.G488fs	UBXN11_ENST00000374217.2_Frame_Shift_Del_p.G455fs|UBXN11_ENST00000357089.4_Frame_Shift_Del_p.G455fs|UBXN11_ENST00000314675.7_Frame_Shift_Del_p.G368fs|UBXN11_ENST00000374223.1_Frame_Shift_Del_p.G245fs|UBXN11_ENST00000374221.3_Frame_Shift_Del_p.G488fs			Q5T124	UBX11_HUMAN	UBX domain protein 11	488	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggaccgggaccgggacaggga	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1462_1463delGG	1.37:g.26608890_26608891delCC	ENSP00000363339:p.Gly488fs		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Frame_Shift_Del	DEL	pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.G488fs	ENST00000374222.1	37	c.1463_1462	CCDS41288.1	1																																																																																			UBXN11	-	NULL	ENSG00000158062		0.713	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	HGNC	protein_coding	OTTHUMT00000009500.1	8	0.00	0	CC	NM_145345		26608890	26608891	-1	no_errors	ENST00000374221	ensembl	human	known	69_37n	frame_shift_del	9	30.77	4	DEL	0.001:0.001	-
VPS13C	54832	genome.wustl.edu	37	15	62283988	62283988	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr15:62283988C>T	ENST00000261517.5	-	17	1440	c.1367G>A	c.(1366-1368)gGg>gAg	p.G456E	VPS13C_ENST00000395896.4_Missense_Mutation_p.G456E|VPS13C_ENST00000395898.3_Missense_Mutation_p.G413E|VPS13C_ENST00000249837.3_Missense_Mutation_p.G413E	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAATTTTTGCCCAGACCGAAT	0.383																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1367G>A	15.37:g.62283988C>T	ENSP00000261517:p.Gly456Glu			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.G456E	ENST00000261517.5	37	c.1367	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959056	0.92726	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.44083	0.94;0.93;1.1	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.64676	1.99	0.80722	D	1	P;D;P;D	0.89917	0.699;1.0;0.911;1.0	P;D;P;D	0.97110	0.472;1.0;0.821;0.999	T	0.65282	-0.6206	10	0.72032	D	0.01	.	20.0119	0.97458	0.0:1.0:0.0:0.0	.	413;456;413;456	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	E	413;456;456;456	ENSP00000249837:G413E;ENSP00000261517:G456E;ENSP00000379233:G456E	ENSP00000249837:G413E	G	-	2	0	VPS13C	60071280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.387000	0.73191	2.733000	0.93635	0.591000	0.81541	GGG	VPS13C	-	NULL	ENSG00000129003		0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	86	0.00	0	C	NM_017684		62283988	62283988	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	125	28.81	51	SNP	1.000	T
WFDC2	10406	genome.wustl.edu	37	20	44108628	44108628	+	Silent	SNP	C	C	T	rs200993376		TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr20:44108628C>T	ENST00000372676.3	+	3	346	c.270C>T	c.(268-270)ctC>ctT	p.L90L	WFDC2_ENST00000339946.3_Silent_p.L42L|AL031663.1_ENST00000599747.1_5'Flank|WFDC2_ENST00000342873.3_Silent_p.L39L|WFDC2_ENST00000488143.1_3'UTR	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	90	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase inhibitor activity (GO:0019828)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1		Myeloproliferative disorder(115;0.0122)				TTCCCCAGCTCGGCCTCTGTC	0.552																																						dbGAP											0													141.0	144.0	143.0					20																	44108628		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X63187	CCDS35501.1	20q13.12	2013-01-21			ENSG00000101443	ENSG00000101443		"""WAP four-disulfide core domain containing"""	15939	protein-coding gene	gene with protein product	"""epididymal protein 4"""					1686187, 10570965	Standard	NM_006103		Approved	HE4, WAP5, dJ461P17.6, EDDM4	uc002xoo.3	Q14508	OTTHUMG00000032594	ENST00000372676.3:c.270C>T	20.37:g.44108628C>T			A2A2A5|A2A2A6|A6PVD5|Q6IB27|Q8WXV9|Q8WXW0|Q8WXW1|Q8WXW2|Q96KJ1	Silent	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.L90	ENST00000372676.3	37	c.270	CCDS35501.1	20																																																																																			WFDC2	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core	ENSG00000101443		0.552	WFDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC2	HGNC	protein_coding	OTTHUMT00000079476.3	63	0.00	0	C			44108628	44108628	+1	no_errors	ENST00000372676	ensembl	human	known	69_37n	silent	74	36.44	43	SNP	0.032	T
ZNF236	7776	genome.wustl.edu	37	18	74625749	74625749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JI-01A-11D-A13L-09	TCGA-D8-A1JI-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2c6a885b-0452-492c-8829-13ba4b2ac455	011f9e39-3f8f-48df-b392-ab2963cfde84	g.chr18:74625749C>T	ENST00000253159.8	+	18	3148	c.2950C>T	c.(2950-2952)Cag>Tag	p.Q984*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q986*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	984					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCACCTGAAGCAGCATGTGCG	0.493																																						dbGAP											0													91.0	95.0	94.0					18																	74625749		1996	4191	6187	-	-	-	SO:0001587	stop_gained	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2950C>T	18.37:g.74625749C>T	ENSP00000253159:p.Gln984*		B2RTX9|Q9UL37	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q984*	ENST00000253159.8	37	c.2950	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	41	8.666337	0.98908	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	18.8022	0.92022	0.0:1.0:0.0:0.0	.	.	.	.	X	984	.	ENSP00000253159:Q984X	Q	+	1	0	ZNF236	72754737	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.538000	0.82048	2.433000	0.82419	0.462000	0.41574	CAG	ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130856		0.493	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	56	0.00	0	C			74625749	74625749	+1	no_errors	ENST00000253159	ensembl	human	known	69_37n	nonsense	68	41.88	49	SNP	1.000	T
