#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
MTUS1	57509	genome.wustl.edu	37	8	17612954	17612954	+	Missense_Mutation	SNP	A	A	C			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:17612954A>C	ENST00000262102.6	-	2	587	c.363T>G	c.(361-363)tgT>tgG	p.C121W	MTUS1_ENST00000519263.1_Missense_Mutation_p.C121W|MTUS1_ENST00000381862.3_Missense_Mutation_p.C121W|MTUS1_ENST00000381869.3_Missense_Mutation_p.C121W	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	121					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTAGGGAATGACAACTGTGTT	0.428													ENSG00000129422																																					0													135.0	124.0	127.0					8																	17612954		1956	4134	6090	SO:0001583	missense	0			-	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.363T>G	8.37:g.17612954A>C	ENSP00000262102:p.Cys121Trp		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.C121W	ENST00000262102.6	37	c.363	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	a	13.84	2.357484	0.41801	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.19806	3.11;3.11;3.11;2.12	3.98	2.83	0.33086	.	0.630018	0.14766	N	0.299720	T	0.28234	0.0697	L	0.29908	0.895	0.09310	N	0.999992	P;D;D	0.69078	0.937;0.997;0.997	P;P;P	0.62740	0.539;0.847;0.906	T	0.04796	-1.0926	10	0.72032	D	0.01	2.1428	8.2874	0.31937	0.9054:0.0:0.0946:0.0	.	121;121;121	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	W	121	ENSP00000371293:C121W;ENSP00000262102:C121W;ENSP00000430167:C121W;ENSP00000371286:C121W	ENSP00000262102:C121W	C	-	3	2	MTUS1	17657234	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.055000	0.11807	0.875000	0.35847	0.456000	0.33151	TGT	-	MTUS1	-	NULL		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1	0	0	0	30	30	60	0.00	0.00	A	XM_372031		17612954	-1	26	32	25	43	tier1	no_errors	ENST00000262102	ensembl	human	known	74_37	missense	50.98	42.67	SNP	0.002	C	26	25
FUT10	84750	genome.wustl.edu	37	8	33247235	33247235	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:33247235T>C	ENST00000327671.5	-	4	1089	c.458A>G	c.(457-459)aAa>aGa	p.K153R	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.K125R|FUT10_ENST00000518672.1_Missense_Mutation_p.K125R|FUT10_ENST00000335589.3_Missense_Mutation_p.K91R	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	153					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ATAATTGTTTTTCGGGGACTC	0.433													ENSG00000172728																																					0													86.0	78.0	80.0					8																	33247235		2203	4300	6503	SO:0001583	missense	0			-	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.458A>G	8.37:g.33247235T>C	ENSP00000332757:p.Lys153Arg		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.K153R	ENST00000327671.5	37	c.458	CCDS6088.1	8	.	.	.	.	.	.	.	.	.	.	t	16.87	3.242352	0.58995	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.24723	1.87;1.87;1.87;1.84	5.17	5.17	0.71159	.	0.055646	0.64402	D	0.000002	T	0.29976	0.0750	L	0.42581	1.335	0.52099	D	0.99994	P;B;P;B;D;B	0.54047	0.937;0.34;0.712;0.178;0.964;0.236	P;B;B;B;P;B	0.52309	0.695;0.155;0.279;0.155;0.605;0.173	T	0.03086	-1.1074	10	0.11794	T	0.64	-8.0322	13.2792	0.60205	0.0:0.0:0.0:1.0	.	203;153;125;91;153;195	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	R	153;195;125;125;91	ENSP00000332757:K153R;ENSP00000430428:K125R;ENSP00000429870:K125R;ENSP00000334997:K91R	ENSP00000332757:K153R	K	-	2	0	FUT10	33366777	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.138000	0.64795	2.072000	0.62099	0.451000	0.29950	AAA	-	FUT10	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met		0.433	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	HGNC	protein_coding	OTTHUMT00000376540.1	0	0	0	42	42	90	0.00	0.00	T	NM_032664		33247235	-1	28	42	31	51	tier1	no_errors	ENST00000327671	ensembl	human	known	74_37	missense	47.46	45.16	SNP	1.000	C	28	31
BCAR3	8412	genome.wustl.edu	37	1	94037299	94037299	+	Silent	SNP	C	C	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:94037299C>T	ENST00000370244.1	-	11	2190	c.1902G>A	c.(1900-1902)gcG>gcA	p.A634A	BCAR3_ENST00000260502.6_Silent_p.A634A|BCAR3_ENST00000370243.1_Silent_p.A634A|BCAR3_ENST00000370247.3_Silent_p.A543A|BCAR3_ENST00000539242.1_Silent_p.A310A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	634	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCAGTTCCACCGCCACCTGGA	0.507													ENSG00000137936																																					0													106.0	104.0	105.0					1																	94037299		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1902G>A	1.37:g.94037299C>T			D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.A634	ENST00000370244.1	37	c.1902	CCDS745.1	1																																																																																			-	BCAR3	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.507	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	0	0	0	26	26	38	0.00	0.00	C			94037299	-1	9	11	42	71	tier1	no_errors	ENST00000260502	ensembl	human	known	74_37	silent	17.65	13.41	SNP	0.000	T	9	42
CALN1	83698	genome.wustl.edu	37	7	71252851	71252851	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr7:71252851C>T	ENST00000329008.5	-	6	867	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	CALN1_ENST00000431984.1_Missense_Mutation_p.R190Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R190Q|CALN1_ENST00000395275.2_Missense_Mutation_p.R232Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R232Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R190Q	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.R232Q(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GAGGCTCTTCCGGACGCAGGT	0.552													ENSG00000183166																																					2	Substitution - Missense(2)	endometrium(2)											125.0	98.0	107.0					7																	71252851		2203	4300	6503	SO:0001583	missense	0			-	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.569G>A	7.37:g.71252851C>T	ENSP00000332498:p.Arg190Gln		J3KQA7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R232Q	ENST00000329008.5	37	c.695	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.581376	0.96565	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.74526	-0.69;-0.85;-0.69;-0.69;-0.85;-0.69	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	L	0.29908	0.895	0.50039	D	0.999846	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.82946	-0.0205	10	0.87932	D	0	-29.6416	17.5493	0.87872	0.0:1.0:0.0:0.0	.	190;190	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Q	190;232;190;190;232;190	ENSP00000332498:R190Q;ENSP00000378690:R232Q;ENSP00000378691:R190Q;ENSP00000410704:R190Q;ENSP00000391882:R232Q;ENSP00000384354:R190Q	ENSP00000332498:R190Q	R	-	2	0	CALN1	70890787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	CGG	-	CALN1	-	NULL		0.552	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	HGNC	protein_coding	OTTHUMT00000320044.2	0	0	0	31	31	70	0.00	0.00	C	NM_031468		71252851	-1	5	25	13	35	tier1	no_errors	ENST00000395275	ensembl	human	known	74_37	missense	26.32	41.67	SNP	1.000	T	5	13
PTPRK	5796	genome.wustl.edu	37	6	128294875	128294875	+	Missense_Mutation	SNP	A	A	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr6:128294875A>T	ENST00000368215.3	-	28	4063	c.4064T>A	c.(4063-4065)aTa>aAa	p.I1355K	PTPRK_ENST00000368210.3_Missense_Mutation_p.I1374K|PTPRK_ENST00000368226.4_Missense_Mutation_p.I1356K|PTPRK_ENST00000368213.5_Missense_Mutation_p.I1362K|PTPRK_ENST00000368227.3_Missense_Mutation_p.I1373K|PTPRK_ENST00000368207.3_Missense_Mutation_p.I1388K|PTPRK_ENST00000532331.1_Missense_Mutation_p.I1378K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1355	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACCTGAAGTATCAGTTTCAA	0.517													ENSG00000152894																																					0													132.0	119.0	124.0					6																	128294875		2203	4300	6503	SO:0001583	missense	0			-	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4064T>A	6.37:g.128294875A>T	ENSP00000357198:p.Ile1355Lys		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.I1373K	ENST00000368215.3	37	c.4118		6	.	.	.	.	.	.	.	.	.	.	A	34	5.296997	0.95574	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.90655	0.7069	M	0.81802	2.56	0.80722	D	1	P;P;D;D	0.65815	0.758;0.952;0.995;0.994	P;P;D;P	0.63703	0.723;0.713;0.917;0.865	D	0.92084	0.5675	10	0.87932	D	0	.	16.1614	0.81721	1.0:0.0:0.0:0.0	.	1378;1362;1355;1356	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	K	1356;1373;1378;1362;1374;1355;1388	ENSP00000357209:I1356K;ENSP00000357210:I1373K;ENSP00000432973:I1378K;ENSP00000357196:I1362K;ENSP00000357193:I1374K;ENSP00000357198:I1355K;ENSP00000357190:I1388K	ENSP00000357190:I1388K	I	-	2	0	PTPRK	128336568	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.284000	0.95882	2.219000	0.72066	0.533000	0.62120	ATA	-	PTPRK	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.517	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	0	0	0	25	25	55	0.00	0.00	A			128294875	-1	17	31	30	50	tier1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	36.17	38.27	SNP	1.000	T	17	30
RHO	6010	genome.wustl.edu	37	3	129247673	129247673	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr3:129247673G>A	ENST00000296271.3	+	1	191	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	33					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CTACCTGGCTGAGCCATGGCA	0.572													ENSG00000163914																									Esophageal Squamous(118;214 1623 30842 43234 46940)												0													175.0	138.0	150.0					3																	129247673		2203	4300	6503	SO:0001583	missense	0			-	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.97G>A	3.37:g.129247673G>A	ENSP00000296271:p.Glu33Lys		Q16414|Q2M249	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin	p.E33K	ENST00000296271.3	37	c.97	CCDS3063.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082588	0.76528	.	.	ENSG00000163914	ENST00000296271	D	0.94280	-3.39	5.52	5.52	0.82312	Rhodopsin, N-terminal (1);	0.219310	0.47455	D	0.000234	D	0.95121	0.8419	M	0.85197	2.74	0.49582	D	0.999806	B	0.32051	0.354	B	0.39562	0.303	D	0.94600	0.7795	10	0.59425	D	0.04	.	19.0381	0.92987	0.0:0.0:1.0:0.0	.	33	P08100	OPSD_HUMAN	K	33	ENSP00000296271:E33K	ENSP00000296271:E33K	E	+	1	0	RHO	130730363	1.000000	0.71417	0.953000	0.39169	0.954000	0.61252	6.814000	0.75236	2.609000	0.88269	0.591000	0.81541	GAG	-	RHO	-	pfam_Rhodopsin_N,prints_Rhodopsin		0.572	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHO	HGNC	protein_coding	OTTHUMT00000356101.1	0	0	1	46	46	68	0.00	1.43	G	NM_000539		129247673	+1	6	22	13	43	tier1	no_errors	ENST00000296271	ensembl	human	known	74_37	missense	31.58	33.85	SNP	0.999	A	6	13
DTHD1	401124	genome.wustl.edu	37	4	36345327	36345327	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr4:36345327C>T	ENST00000456874.2	+	9	2285	c.2227C>T	c.(2227-2229)Ctc>Ttc	p.L743F	DTHD1_ENST00000503528.1_3'UTR|RP11-431M7.2_ENST00000504344.1_RNA|DTHD1_ENST00000357504.3_Missense_Mutation_p.L578F|DTHD1_ENST00000507598.1_Missense_Mutation_p.L783F	NM_001170700.2	NP_001164171.1	Q6ZMT9	DTHD1_HUMAN	death domain containing 1	743	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|stomach(1)	8						CAAACTTCGCCTCCTGGCTCG	0.453													ENSG00000197057																																					0													37.0	35.0	35.0					4																	36345327		692	1591	2283	SO:0001583	missense	0			-	AK094684	CCDS54754.1	4p14	2009-10-02			ENSG00000197057	ENSG00000197057			37261	protein-coding gene	gene with protein product							Standard	NM_001170700		Approved	FLJ16686	uc021xne.2	Q6ZMT9	OTTHUMG00000160371	ENST00000456874.2:c.2227C>T	4.37:g.36345327C>T	ENSP00000401597:p.Leu743Phe		B2RXK4|B4E2N7	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain	p.L743F	ENST00000456874.2	37	c.2227	CCDS54754.1	4	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345615	0.41498	.	.	ENSG00000197057	ENST00000357504;ENST00000507598;ENST00000456874	D;D;D	0.85484	-1.99;-1.99;-1.99	4.3	4.3	0.51218	.	0.259972	0.32190	N	0.006451	D	0.90445	0.7008	M	0.70595	2.14	0.41865	D	0.990243	D	0.71674	0.998	D	0.69142	0.962	D	0.88327	0.2966	10	0.18710	T	0.47	-8.9754	16.9469	0.86232	0.0:1.0:0.0:0.0	.	578	Q6ZMT9-2	.	F	578;783;743	ENSP00000350103:L578F;ENSP00000424426:L783F;ENSP00000401597:L743F	ENSP00000350103:L578F	L	+	1	0	DTHD1	36021722	1.000000	0.71417	0.990000	0.47175	0.296000	0.27459	3.879000	0.56138	2.232000	0.73038	0.491000	0.48974	CTC	-	DTHD1	-	pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain		0.453	DTHD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DTHD1	HGNC	protein_coding		0	0	0	21	21	28	0.00	0.00	C	NM_001136536		36345327	+1	16	30	22	41	tier1	no_errors	ENST00000456874	ensembl	human	known	74_37	missense	42.11	42.25	SNP	1.000	T	16	22
AQP4	361	genome.wustl.edu	37	18	24436401	24436401	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr18:24436401T>C	ENST00000383168.4	-	5	874	c.746A>G	c.(745-747)gAg>gGg	p.E249G	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.E227G|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.E227G	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	249					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GAAGACATACTCATAAAGGCC	0.443													ENSG00000171885																																					0													108.0	104.0	106.0					18																	24436401		2203	4300	6503	SO:0001583	missense	0			-	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.746A>G	18.37:g.24436401T>C	ENSP00000372654:p.Glu249Gly		P78564	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.E249G	ENST00000383168.4	37	c.746	CCDS11889.1	18	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808036	0.90707	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.92911	-3.13	5.75	5.75	0.90469	Aquaporin-like (2);	0.043465	0.85682	D	0.000000	D	0.89396	0.6703	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.45474	0.482	D	0.90597	0.4541	10	0.62326	D	0.03	.	16.0475	0.80731	0.0:0.0:0.0:1.0	.	249	P55087	AQP4_HUMAN	G	249;229;145	ENSP00000372654:E249G	ENSP00000372654:E249G	E	-	2	0	AQP4	22690399	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.442000	0.80503	2.193000	0.70182	0.528000	0.53228	GAG	-	AQP4	-	superfamily_Aquaporin-like,prints_MIP		0.443	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4	HGNC	protein_coding	OTTHUMT00000254914.2	0	0	0	28	28	116	0.00	0.00	T	NM_001650, NM_004028		24436401	-1	17	41	12	85	tier1	no_errors	ENST00000383168	ensembl	human	known	74_37	missense	58.62	32.54	SNP	1.000	C	17	12
NOTCH4	4855	genome.wustl.edu	37	6	32185035	32185035	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr6:32185035C>T	ENST00000375023.3	-	10	1771	c.1633G>A	c.(1633-1635)Ggc>Agc	p.G545S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	545	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCGGGTGCCGGAGAATCCT	0.612													ENSG00000204301																																					0													42.0	36.0	38.0					6																	32185035		1509	2708	4217	SO:0001583	missense	0			-		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1633G>A	6.37:g.32185035C>T	ENSP00000364163:p.Gly545Ser		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G545S	ENST00000375023.3	37	c.1633	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394679	0.62066	.	.	ENSG00000204301	ENST00000375023	D	0.84442	-1.85	4.03	4.03	0.46877	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41500	D	0.000880	D	0.94132	0.8118	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.98	D	0.95571	0.8638	10	0.87932	D	0	.	14.0558	0.64767	0.0:1.0:0.0:0.0	.	545;545	Q6P3V5;Q99466	.;NOTC4_HUMAN	S	545	ENSP00000364163:G545S	ENSP00000364163:G545S	G	-	1	0	NOTCH4	32293013	0.997000	0.39634	0.097000	0.21041	0.097000	0.18754	4.787000	0.62432	2.233000	0.73108	0.563000	0.77884	GGC	-	NOTCH4	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	0	0	0	32	32	49	0.00	0.00	C			32185035	-1	9	23	19	45	tier1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	32.14	33.82	SNP	0.996	T	9	19
TCOF1	6949	genome.wustl.edu	37	5	149753842	149753842	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr5:149753842G>T	ENST00000504761.2	+	8	976	c.976G>T	c.(976-978)Gta>Tta	p.V326L	TCOF1_ENST00000323668.7_Missense_Mutation_p.V249L|TCOF1_ENST00000445265.2_Missense_Mutation_p.V249L|TCOF1_ENST00000377797.3_Missense_Mutation_p.V326L|TCOF1_ENST00000513346.1_Missense_Mutation_p.V326L|TCOF1_ENST00000439160.2_Missense_Mutation_p.V326L|TCOF1_ENST00000394269.3_Missense_Mutation_p.V326L|TCOF1_ENST00000451292.1_Missense_Mutation_p.V326L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	326					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAGGGGCTGTAGCCTCCCA	0.637													ENSG00000070814																																					0													18.0	16.0	17.0					5																	149753842		2196	4295	6491	SO:0001583	missense	0			-		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.976G>T	5.37:g.149753842G>T	ENSP00000421655:p.Val326Leu		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.V326L	ENST00000504761.2	37	c.976	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	5.900	0.350073	0.11182	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.65178	-0.14;0.07;0.07;0.07;0.07;-0.14;0.07;0.07;-0.14	3.8	-7.6	0.01303	Treacher Collins syndrome, treacle (1);	.	.	.	.	T	0.27524	0.0676	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.001;0.003;0.001;0.001	T	0.11470	-1.0586	9	0.28530	T	0.3	0.381	1.414	0.02298	0.1692:0.2217:0.1622:0.4468	.	326;249;326;326;249;326	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	L	326;326;249;249;326;326;326;326;326	ENSP00000400939:V326L;ENSP00000367028:V326L;ENSP00000409944:V249L;ENSP00000325223:V249L;ENSP00000406888:V326L;ENSP00000377811:V326L;ENSP00000390717:V326L;ENSP00000421655:V326L;ENSP00000427484:V326L	ENSP00000325223:V249L	V	+	1	0	TCOF1	149734035	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.204000	0.01233	-1.818000	0.01218	-1.373000	0.01185	GTA	-	TCOF1	-	pfam_TCS_treacle		0.637	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	0	0	0	54	54	14	0.00	0.00	G	NM_001008656		149753842	+1	4	2	44	14	tier1	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	8.33	12.50	SNP	0.000	T	4	44
DPT	1805	genome.wustl.edu	37	1	168698150	168698150	+	Missense_Mutation	SNP	G	G	A	rs200918644		TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:168698150G>A	ENST00000367817.3	-	1	352	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	88	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCAGCACTCCGTGGGTTCCCC	0.587													ENSG00000143196	G|||	1	0.000199681	0.0008	0.0	5008	,	,		21170	0.0		0.0	False		,,,				2504	0.0																0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	134.0	112.0	119.0		263	5.0	0.8	1		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPT	NM_001937.4	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	88/202	168698150	2,13004	2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.263C>T	1.37:g.168698150G>A	ENSP00000356791:p.Thr88Met		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	NULL	p.T88M	ENST00000367817.3	37	c.263	CCDS1275.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.75	3.690795	0.68271	2.27E-4	1.16E-4	ENSG00000143196	ENST00000367817	T	0.50277	0.75	5.0	5.0	0.66597	.	0.262117	0.41712	D	0.000821	T	0.49626	0.1568	L	0.51422	1.61	0.40742	D	0.982842	D	0.65815	0.995	P	0.55785	0.784	T	0.54918	-0.8221	9	0.62326	D	0.03	-19.5449	17.894	0.88881	0.0:0.0:1.0:0.0	.	88	Q07507	DERM_HUMAN	M	88	ENSP00000356791:T88M	ENSP00000356791:T88M	T	-	2	0	DPT	166964774	1.000000	0.71417	0.839000	0.33178	0.997000	0.91878	4.781000	0.62389	2.293000	0.77203	0.655000	0.94253	ACG	rs200918644	DPT	-	NULL		0.587	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	HGNC	protein_coding	OTTHUMT00000083618.1	0	0	0	48	48	63	0.00	0.00	G	NM_001937		168698150	-1	25	16	21	32	tier1	no_errors	ENST00000367817	ensembl	human	known	74_37	missense	54.35	33.33	SNP	0.808	A	25	21
CDH19	28513	genome.wustl.edu	37	18	64235825	64235825	+	Silent	SNP	A	A	G			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr18:64235825A>G	ENST00000540086.1	-	3	564	c.318T>C	c.(316-318)gaT>gaC	p.D106D	CDH19_ENST00000262150.2_Silent_p.D106D	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	214	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTCCTCTCTATCAAGCTTCT	0.438													ENSG00000071991																																					0													138.0	133.0	134.0					18																	64235825		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.318T>C	18.37:g.64235825A>G			O15098	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D106	ENST00000540086.1	37	c.318	CCDS59325.1	18																																																																																			-	CDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.438	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	0	0	0	15	15	18	0.00	0.00	A	NM_021153		64235825	-1	14	21	41	55	tier1	no_errors	ENST00000262150	ensembl	human	known	74_37	silent	25.45	27.63	SNP	1.000	G	14	41
DHX29	54505	genome.wustl.edu	37	5	54586147	54586147	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr5:54586147G>A	ENST00000251636.5	-	7	954	c.806C>T	c.(805-807)gCa>gTa	p.A269V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	269						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGCAGTTTTGCTGCAAGATG	0.348													ENSG00000067248																																					0													82.0	77.0	79.0					5																	54586147		2203	4300	6503	SO:0001583	missense	0			-	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.806C>T	5.37:g.54586147G>A	ENSP00000251636:p.Ala269Val		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A269V	ENST00000251636.5	37	c.806	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790714	0.70452	.	.	ENSG00000067248	ENST00000251636	T	0.46451	0.87	5.41	4.54	0.55810	.	0.308380	0.39759	N	0.001265	T	0.45736	0.1357	M	0.61703	1.905	0.41603	D	0.988869	P	0.50443	0.935	P	0.45829	0.494	T	0.46843	-0.9162	10	0.38643	T	0.18	.	14.2429	0.65969	0.0:0.283:0.717:0.0	.	269	Q7Z478	DHX29_HUMAN	V	269	ENSP00000251636:A269V	ENSP00000251636:A269V	A	-	2	0	DHX29	54621904	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	3.999000	0.57031	1.408000	0.46895	-0.156000	0.13503	GCA	-	DHX29	-	NULL		0.348	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	0	0	0	44	44	37	0.00	0.00	G	NM_019030		54586147	-1	31	26	30	41	tier1	no_errors	ENST00000251636	ensembl	human	known	74_37	missense	50.82	38.81	SNP	0.998	A	31	30
PARD3B	117583	genome.wustl.edu	37	2	206480689	206480689	+	3'UTR	SNP	A	A	G			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr2:206480689A>G	ENST00000406610.2	+	0	3977				PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTGCTAATCAGAGAGAAAAA	0.403													ENSG00000116117																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.*152A>G	2.37:g.206480689A>G			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	R	SNP	-	NULL	ENST00000406610.2	37	NULL		2																																																																																			-	PARD3B	-	-		0.403	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	0	0	0	9	9	55	0.00	0.00	A	NM_057177		206480689	+1	5	27	11	39	tier1	no_errors	ENST00000488622	ensembl	human	known	74_37	rna	31.25	40.91	SNP	0.018	G	5	11
SERINC1	57515	genome.wustl.edu	37	6	122768037	122768037	+	Missense_Mutation	SNP	C	C	T	rs200633097		TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr6:122768037C>T	ENST00000339697.4	-	9	1192	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	370					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CGGTGAACATCGTCCCCATCC	0.393													ENSG00000111897	C|||	1	0.000199681	0.0008	0.0	5008	,	,		17591	0.0		0.0	False		,,,				2504	0.0																0													189.0	163.0	171.0					6																	122768037		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1108G>A	6.37:g.122768037C>T	ENSP00000342962:p.Asp370Asn		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	pfam_TMS_TDE	p.D370N	ENST00000339697.4	37	c.1108	CCDS5125.1	6	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.042	0.376072	0.11466	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.13538	2.58;2.58	5.4	4.53	0.55603	.	0.362069	0.34652	N	0.003781	T	0.03390	0.0098	L	0.41710	1.295	0.31804	N	0.628054	B	0.06786	0.001	B	0.09377	0.004	T	0.37820	-0.9689	10	0.10377	T	0.69	-10.1574	10.1281	0.42663	0.0:0.8479:0.0:0.1521	.	370	Q9NRX5	SERC1_HUMAN	N	370	ENSP00000342962:D370N;ENSP00000357439:D370N	ENSP00000342962:D370N	D	-	1	0	SERINC1	122809736	1.000000	0.71417	0.727000	0.30756	0.051000	0.14879	2.707000	0.47143	1.282000	0.44496	0.650000	0.86243	GAT	rs200633097	SERINC1	-	pfam_TMS_TDE		0.393	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC1	HGNC	protein_coding	OTTHUMT00000042031.2	0	0	0	35	35	81	0.00	0.00	C	NM_020755		122768037	-1	16	40	19	56	tier1	no_errors	ENST00000339697	ensembl	human	known	74_37	missense	45.71	41.67	SNP	0.990	T	16	19
KIF22	3835	genome.wustl.edu	37	16	29808222	29808222	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr16:29808222C>T	ENST00000160827.4	+	2	119	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_5'UTR|KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000400751.5_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	27					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGAGCTGGTCGCTGTCGGCT	0.582													ENSG00000079616																																					0													88.0	88.0	88.0					16																	29808222		2197	4296	6493	SO:0001583	missense	0			-	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.79C>T	16.37:g.29808222C>T	ENSP00000160827:p.Arg27Cys		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_D-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R27C	ENST00000160827.4	37	c.79	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	c	18.59	3.656194	0.67586	.	.	ENSG00000079616	ENST00000160827	T	0.74106	-0.81	5.56	4.62	0.57501	.	.	.	.	.	T	0.53546	0.1803	N	0.08118	0	0.80722	D	1	B	0.25850	0.136	B	0.16289	0.015	T	0.54866	-0.8229	9	0.56958	D	0.05	.	10.9611	0.47385	0.0:0.9129:0.0:0.0871	.	27	Q14807	KIF22_HUMAN	C	27	ENSP00000160827:R27C	ENSP00000160827:R27C	R	+	1	0	KIF22	29715723	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	1.631000	0.37092	1.499000	0.48617	-0.119000	0.15052	CGC	-	KIF22	-	NULL		0.582	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	0	0	0	30	30	48	0.00	0.00	C			29808222	+1	8	18	17	29	tier1	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	32.00	38.30	SNP	0.998	T	8	17
CSMD1	64478	genome.wustl.edu	37	8	3008950	3008950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:3008950G>T	ENST00000520002.1	-	41	6558	c.6003C>A	c.(6001-6003)tgC>tgA	p.C2001*	CSMD1_ENST00000539096.1_Nonsense_Mutation_p.C2000*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.C2000*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.C2001*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.C2001*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.C2000*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.C2001*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2001	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTCCAGGTGCAGTCTAAGT	0.463													ENSG00000183117																																					0													98.0	103.0	101.0					8																	3008950		2033	4220	6253	SO:0001587	stop_gained	0			-			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6003C>A	8.37:g.3008950G>T	ENSP00000430733:p.Cys2001*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.C2001*	ENST00000520002.1	37	c.6003		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.298489|11.298489	0.99543|0.99543	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	4.79|4.79	3.92|3.92	0.45320|0.45320	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.48786	.|0.1519	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57590	.|-0.7785	.|3	0.02654|.	T|.	1|.	.|.	7.8014|7.8014	0.29176|0.29176	0.2695:0.0:0.7305:0.0|0.2695:0.0:0.7305:0.0	.|.	.|.	.|.	.|.	X|N	2001;2001;1862;2000;2000;2000|1481	.|.	ENSP00000320445:C1862X|.	C|H	-|-	3|1	2|0	CSMD1|CSMD1	2996357|2996357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.235000|0.235000	0.25334|0.25334	2.772000|2.772000	0.47678|0.47678	1.001000|1.001000	0.39076|0.39076	-0.142000|-0.142000	0.14014|0.14014	TGC|CAC	-	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	0	0	0	53	53	77	0.00	0.00	G	NM_033225		3008950	-1	15	12	64	77	tier1	no_errors	ENST00000520002	ensembl	human	known	74_37	nonsense	18.99	13.48	SNP	1.000	T	15	64
KANK2	25959	genome.wustl.edu	37	19	11277131	11277131	+	3'UTR	SNP	G	G	A			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr19:11277131G>A	ENST00000586659.1	-	0	2973				KANK2_ENST00000432929.2_3'UTR|KANK2_ENST00000355150.5_3'UTR|KANK2_ENST00000587317.1_5'UTR			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2						apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CGTGGGCCTTGGGGAGTGTGA	0.672													ENSG00000197256																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.*103C>T	19.37:g.11277131G>A			B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	R	SNP	-	NULL	ENST00000586659.1	37	NULL	CCDS12255.1	19																																																																																			-	KANK2	-	-		0.672	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	0	0	0	68	68	53	0.00	0.00	G	NM_015493		11277131	-1	10	20	20	14	tier1	no_errors	ENST00000587317	ensembl	human	known	74_37	rna	33.33	58.82	SNP	0.275	A	10	20
SEC14L4	284904	genome.wustl.edu	37	22	30890890	30890890	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr22:30890890T>C	ENST00000255858.7	-	6	565	c.482A>G	c.(481-483)aAa>aGa	p.K161R	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.K161R|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.K107R|SEC14L4_ENST00000540456.1_Missense_Mutation_p.K146R	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	161	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCACAGGTGTTTCAGGCTCAG	0.602													ENSG00000133488																																					0													141.0	111.0	121.0					22																	30890890		2203	4300	6503	SO:0001583	missense	0			-	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.482A>G	22.37:g.30890890T>C	ENSP00000255858:p.Lys161Arg		A5D6W7|A6NCV4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.K161R	ENST00000255858.7	37	c.482	CCDS13878.1	22	.	.	.	.	.	.	.	.	.	.	t	12.61	1.990464	0.35131	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.11	-3.79	0.04320	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.332649	0.34580	N	0.003850	T	0.54415	0.1857	N	0.16567	0.415	0.51767	D	0.999936	B;B;B	0.18310	0.002;0.027;0.001	B;B;B	0.23419	0.012;0.046;0.007	T	0.44314	-0.9336	10	0.06757	T	0.87	-14.797	12.2975	0.54857	0.0:0.5721:0.0:0.4279	.	107;146;161	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	R	161;146;107;161	ENSP00000255858:K161R;ENSP00000440848:K146R;ENSP00000376525:K107R;ENSP00000371412:K161R	ENSP00000255858:K161R	K	-	2	0	SEC14L4	29220890	0.741000	0.28217	0.261000	0.24466	0.951000	0.60555	0.808000	0.27154	-0.669000	0.05289	0.482000	0.46254	AAA	-	SEC14L4	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.602	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	0	0	0	27	27	68	0.00	0.00	T	NM_174977		30890890	-1	8	18	14	59	tier1	no_errors	ENST00000255858	ensembl	human	known	74_37	missense	36.36	23.38	SNP	0.655	C	8	14
TP53	7157	genome.wustl.edu	37	17	7578271	7578273	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	TGC	TGC	TGC	-	TGC	TGC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr17:7578271_7578273delTGC	ENST00000269305.4	-	6	765_767	c.576_578delGCA	c.(574-579)cagcat>cat	p.Q192del	TP53_ENST00000413465.2_In_Frame_Del_p.Q192del|TP53_ENST00000445888.2_In_Frame_Del_p.Q192del|TP53_ENST00000420246.2_In_Frame_Del_p.Q192del|TP53_ENST00000359597.4_In_Frame_Del_p.Q192del|TP53_ENST00000455263.2_In_Frame_Del_p.Q192del|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193Y(29)|p.H193P(18)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.Q192H(3)|p.P191fs*53(2)|p.Q192Q(2)|p.H61P(2)|p.H100P(2)|p.H61D(2)|p.H100D(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.H100Y(1)|p.H61Y(1)|p.Q192del(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	253	Substitution - Missense(215)|Whole gene deletion(8)|Deletion - In frame(7)|Complex - deletion inframe(6)|Unknown(6)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Substitution - coding silent(2)|Complex - frameshift(1)|Complex - insertion inframe(1)	lung(47)|upper_aerodigestive_tract(32)|breast(28)|ovary(23)|oesophagus(19)|haematopoietic_and_lymphoid_tissue(17)|liver(15)|biliary_tract(12)|endometrium(12)|large_intestine(10)|stomach(9)|central_nervous_system(8)|urinary_tract(7)|skin(5)|bone(4)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M																																				SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;		AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.576_578delGCA	17.37:g.7578271_7578273delTGC	ENSP00000269305:p.Gln192del		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q192in_frame_del	ENST00000269305.4	37	c.578_576	CCDS11118.1	17																																																																																				TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	103	103	155	0.00	0.00	TGC	NM_000546		7578273	-1	26	27	9	24	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	74.29	52.94	DEL	0.998:1.000:0.998	-	26	9
AP1G2	8906	genome.wustl.edu	37	14	24030418	24030424	+	Intron	DEL	CCATGAG	CCATGAG	-			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	CCATGAG	CCATGAG	CCATGAG	-	CCATGAG	CCATGAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr14:24030418_24030424delCCATGAG	ENST00000308724.5	-	18	2749				RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|AP1G2_ENST00000397120.3_Intron|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GAAGCAGGGTCCATGAGCCTCAGCCCT	0.512													ENSG00000258727																																					0																																										SO:0001627	intron_variant	0				AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1993+80CTCATGG>-	14.37:g.24030418_24030424delCCATGAG			D3DS51|O75504	R	DEL	-	NULL	ENST00000308724.5	37	NULL	CCDS9602.1	14																																																																																				RP11-66N24.3	-	-		0.512	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258727	Clone_based_vega_gene	protein_coding	OTTHUMT00000071812.4	0	0	0	73	73	73	0.00	0.00	CCATGAG	NM_003917		24030424	+1	20	20	77	77	tier1	no_errors	ENST00000555968	ensembl	human	known	74_37	rna	20.62	20.62	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000	-	20	77
ASB10	136371	genome.wustl.edu	37	7	150878106	150878106	+	Missense_Mutation	SNP	G	G	C	rs61734407	byFrequency	TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr7:150878106G>C	ENST00000420175.2	-	3	1048	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	ASB10_ENST00000434669.1_Missense_Mutation_p.L387V|ASB10_ENST00000422024.1_Missense_Mutation_p.L387V|ASB10_ENST00000377867.3_Missense_Mutation_p.L327V|ASB10_ENST00000275838.1_Missense_Mutation_p.L342V			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	342					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCTGGGCCAGGGCTGCAGCT	0.682													ENSG00000146926																																					0													33.0	29.0	30.0					7																	150878106		2199	4294	6493	SO:0001583	missense	0			-	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1024C>G	7.37:g.150878106G>C	ENSP00000391137:p.Leu342Val		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L387V	ENST00000420175.2	37	c.1159	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.166178	0.01673	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.69040	-0.34;-0.35;-0.32;-0.33;-0.37	5.26	0.0756	0.14399	Ankyrin repeat-containing domain (4);	0.614834	0.16685	N	0.203768	T	0.35537	0.0935	N	0.04508	-0.205	0.09310	N	0.999999	B;B;B	0.16603	0.018;0.01;0.012	B;B;B	0.17722	0.019;0.015;0.016	T	0.22068	-1.0227	10	0.12430	T	0.62	-0.7496	6.4498	0.21898	0.2083:0.2416:0.5502:0.0	.	327;342;387	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	V	342;327;387;387;342	ENSP00000275838:L342V;ENSP00000367098:L327V;ENSP00000401369:L387V;ENSP00000398247:L387V;ENSP00000391137:L342V	ENSP00000275838:L342V	L	-	1	2	ASB10	150509039	0.994000	0.37717	0.092000	0.20876	0.877000	0.50540	0.268000	0.18571	-0.204000	0.10235	0.591000	0.81541	CTG	-	ASB10	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	0	0	0	72	72	10	0.00	0.00	G	NM_080871		150878106	-1	13	7	21	6	tier1	no_errors	ENST00000422024	ensembl	human	known	74_37	missense	38.24	53.85	SNP	0.122	C	13	21
PAX1	5075	genome.wustl.edu	37	20	21687507	21687507	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr20:21687507C>A	ENST00000398485.2	+	2	772	c.718C>A	c.(718-720)Ccg>Acg	p.P240T	PAX1_ENST00000444366.2_Missense_Mutation_p.P216T|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	240					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AAGTAAGCAGCCGCCGTCGCA	0.647													ENSG00000125813																																					0													35.0	42.0	40.0					20																	21687507		2202	4300	6502	SO:0001583	missense	0			-		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.718C>A	20.37:g.21687507C>A	ENSP00000381499:p.Pro240Thr		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.P240T	ENST00000398485.2	37	c.718	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362716	0.41902	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98280	-4.35;-4.84	5.04	4.07	0.47477	.	0.310366	0.34338	N	0.004048	D	0.96549	0.8874	L	0.45051	1.395	0.36833	D	0.887001	B;B;P	0.48764	0.03;0.0;0.915	B;B;P	0.45071	0.03;0.003;0.468	D	0.96711	0.9525	10	0.45353	T	0.12	.	14.1361	0.65289	0.0:0.8482:0.1518:0.0	.	216;146;240	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	T	240;216	ENSP00000381499:P240T;ENSP00000410355:P216T	ENSP00000381499:P240T	P	+	1	0	PAX1	21635507	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.983000	0.49345	1.080000	0.41073	0.462000	0.41574	CCG	-	PAX1	-	NULL		0.647	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	0	0	0	194	194	50	0.00	0.00	C			21687507	+1	40	15	8	5	tier1	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	83.33	75.00	SNP	1.000	A	40	8
PCDHGA9	56107	genome.wustl.edu	37	5	140783160	140783160	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr5:140783160C>T	ENST00000573521.1	+	1	641	c.641C>T	c.(640-642)gCc>gTc	p.A214V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTCACGGCCTCGGATGGC	0.592													ENSG00000261934																																					0													29.0	34.0	32.0					5																	140783160		2047	4184	6231	SO:0001583	missense	0			-	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.641C>T	5.37:g.140783160C>T	ENSP00000460274:p.Ala214Val		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A214V	ENST00000573521.1	37	c.641	CCDS58981.1	5																																																																																			-	PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	0	0	0	72	72	16	0.00	0.00	C	NM_018921		140783160	+1	13	2	16	0	tier1	no_errors	ENST00000573521	ensembl	human	known	74_37	missense	44.83	100.00	SNP	1.000	T	13	16
RB1	5925	genome.wustl.edu	37	13	48919300	48919300	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr13:48919300T>A	ENST00000267163.4	+	4	603	c.465T>A	c.(463-465)taT>taA	p.Y155*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	155					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGAAGAAGTATGATGTATTGT	0.294		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			ENSG00000139687																											yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	21	Whole gene deletion(15)|Unknown(6)	bone(11)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											128.0	127.0	127.0					13																	48919300		2202	4293	6495	SO:0001587	stop_gained	0	Familial Cancer Database		-	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.465T>A	13.37:g.48919300T>A	ENSP00000267163:p.Tyr155*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Y155*	ENST00000267163.4	37	c.465	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	T	27.8	4.866678	0.91511	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.89	-0.579	0.11720	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6665	0.28434	0.0:0.3821:0.0:0.6179	.	.	.	.	X	134;155	.	ENSP00000267163:Y155X	Y	+	3	2	RB1	47817301	0.964000	0.33143	0.913000	0.36048	0.917000	0.54804	-0.046000	0.11983	-0.341000	0.08376	0.397000	0.26171	TAT	-	RB1	-	pfam_RB_N		0.294	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	0	0	0	54	54	33	0.00	0.00	T			48919300	+1	13	22	7	4	tier1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	65.00	84.62	SNP	0.960	A	13	7
SETD1A	9739	genome.wustl.edu	37	16	30976472	30976472	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr16:30976472C>T	ENST00000262519.8	+	7	2095	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	470	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCTCTGGCTCCCCAGCCCCG	0.662													ENSG00000099381																																					0													26.0	29.0	28.0					16																	30976472		2197	4300	6497	SO:0001583	missense	0			-	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1409C>T	16.37:g.30976472C>T	ENSP00000262519:p.Ser470Phe		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S470F	ENST00000262519.8	37	c.1409	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815897	0.50527	.	.	ENSG00000099381	ENST00000262519	D	0.96619	-4.07	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	L	0.50333	1.59	0.46317	D	0.998981	D	0.76494	0.999	D	0.85130	0.997	D	0.98206	1.0470	10	0.87932	D	0	.	18.2639	0.90046	0.0:1.0:0.0:0.0	.	470	O15047	SET1A_HUMAN	F	470	ENSP00000262519:S470F	ENSP00000262519:S470F	S	+	2	0	SETD1A	30883973	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	5.942000	0.70203	2.601000	0.87937	0.561000	0.74099	TCC	-	SETD1A	-	NULL		0.662	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	0	0	0	70	70	15	0.00	0.00	C	NM_014712		30976472	+1	11	2	20	8	tier1	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	33.33	20.00	SNP	1.000	T	11	20
TMEM51	55092	genome.wustl.edu	37	1	15541908	15541908	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:15541908C>T	ENST00000428417.1	+	2	771	c.325C>T	c.(325-327)Cac>Tac	p.H109Y	TMEM51_ENST00000434578.2_Missense_Mutation_p.H109Y|TMEM51_ENST00000376008.2_Missense_Mutation_p.H109Y|TMEM51_ENST00000376014.3_Missense_Mutation_p.H109Y|TMEM51_ENST00000400796.3_Missense_Mutation_p.H109Y	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	109						integral component of membrane (GO:0016021)		p.H109D(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CGCTGGGCCTCACGCCCAGGA	0.632													ENSG00000171729																																					1	Substitution - Missense(1)	cervix(1)											26.0	23.0	24.0					1																	15541908		2201	4298	6499	SO:0001583	missense	0			-	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.325C>T	1.37:g.15541908C>T	ENSP00000394899:p.His109Tyr		A8K819	Missense_Mutation	SNP	NULL	p.H109Y	ENST00000428417.1	37	c.325	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.212839	0.00289	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.25	5.25	0.73442	.	1.366400	0.03980	N	0.293048	T	0.19087	0.0458	N	0.22421	0.69	0.09310	N	1	P;B	0.41041	0.736;0.168	B;B	0.34652	0.187;0.086	T	0.10800	-1.0614	10	0.02654	T	1	-11.4259	9.309	0.37891	0.0:0.8974:0.0:0.1026	.	109;109	Q9BSA0;Q9NW97	.;TMM51_HUMAN	Y	109	ENSP00000394899:H109Y;ENSP00000365182:H109Y;ENSP00000412298:H109Y;ENSP00000409665:H109Y;ENSP00000383600:H109Y;ENSP00000365176:H109Y	ENSP00000303666:H109Y	H	+	1	0	TMEM51	15414495	0.013000	0.17824	0.004000	0.12327	0.062000	0.15995	2.562000	0.45914	2.462000	0.83206	0.655000	0.94253	CAC	-	TMEM51	-	NULL		0.632	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	0	0	0	110	110	23	0.00	0.00	C	NM_018022		15541908	+1	28	3	32	6	tier1	no_errors	ENST00000376008	ensembl	human	known	74_37	missense	46.67	33.33	SNP	0.002	T	28	32
ZNF446	55663	genome.wustl.edu	37	19	58991842	58991842	+	Missense_Mutation	SNP	G	G	A	rs376903864		TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr19:58991842G>A	ENST00000594369.1	+	7	1483	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	ZNF446_ENST00000596341.1_Missense_Mutation_p.G317R|ZNF446_ENST00000335841.4_3'UTR	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	368					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCTAGCCACCGGGGAAAGCAC	0.662													ENSG00000083838	G|||	1	0.000199681	0.0	0.0	5008	,	,		16648	0.0		0.0	False		,,,				2504	0.001																0								G	ARG/GLY	0,4404		0,0,2202	26.0	28.0	27.0		1102	-0.9	0.0	19		27	1,8599		0,1,4299	no	missense	ZNF446	NM_017908.2	125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	368/451	58991842	1,13003	2202	4300	6502	SO:0001583	missense	0			-		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1102G>A	19.37:g.58991842G>A	ENSP00000472802:p.Gly368Arg			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G368R	ENST00000594369.1	37	c.1102	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	9.360	1.067840	0.20067	0.0	1.16E-4	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	0.55	-0.904	0.10530	.	.	.	.	.	T	0.49184	0.1542	L	0.45228	1.405	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.37197	-0.9716	7	0.48119	T	0.1	.	.	.	.	.	368	Q9NWS9	ZN446_HUMAN	R	368;368;265	.	ENSP00000336565:G368R	G	+	1	0	ZNF446	63683654	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.320000	0.08640	-0.315000	0.08773	GGG	-	ZNF446	-	NULL		0.662	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1	0	0	0	116	116	37	0.00	0.00	G	NM_017908		58991842	+1	23	4	21	5	tier1	no_errors	ENST00000594369	ensembl	human	known	74_37	missense	52.27	44.44	SNP	0.000	A	23	21
ARHGEF12	23365	genome.wustl.edu	37	11	120291478	120291478	+	Silent	SNP	C	C	T	rs199795842	byFrequency	TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr11:120291478C>T	ENST00000397843.2	+	5	382	c.216C>T	c.(214-216)tgC>tgT	p.C72C	ARHGEF12_ENST00000356641.3_Silent_p.C53C|ARHGEF12_ENST00000532993.1_5'UTR	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	72	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTCAGCGTTGCGTAATCATCC	0.383			T	MLL	AML								ENSG00000196914	C|||	2	0.000399361	0.0	0.0	5008	,	,		18684	0.001		0.001	False		,,,				2504	0.0							Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0								C	,	0,4006		0,0,2003	96.0	89.0	91.0		159,216	2.1	1.0	11		91	1,8373		0,1,4186	no	coding-synonymous,coding-synonymous	ARHGEF12	NM_001198665.1,NM_015313.2	,	0,1,6189	TT,TC,CC		0.0119,0.0,0.0081	,	53/1526,72/1545	120291478	1,12379	2003	4187	6190	SO:0001819	synonymous_variant	0			GMAF=0.0005	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.216C>T	11.37:g.120291478C>T			O15086|Q6P526	Silent	SNP	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C53	ENST00000397843.2	37	c.159	CCDS41727.1	11																																																																																			rs199795842	ARHGEF12	-	superfamily_PDZ,pfscan_PDZ		0.383	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	0	0	0	96	96	103	0.00	0.00	C	NM_015313		120291478	+1	7	7	76	85	tier1	no_errors	ENST00000356641	ensembl	human	known	74_37	silent	8.43	7.53	SNP	1.000	T	7	76
SBNO2	22904	genome.wustl.edu	37	19	1111506	1111506	+	Splice_Site	SNP	C	C	G			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr19:1111506C>G	ENST00000361757.3	-	24	3045	c.2808G>C	c.(2806-2808)cgG>cgC	p.R936R	SBNO2_ENST00000438103.2_Splice_Site_p.R879R|SBNO2_ENST00000587024.1_Splice_Site_p.R926R	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	936					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCTTACCCCGGAAGAAGG	0.652													ENSG00000064932																																					0													18.0	21.0	20.0					19																	1111506		1878	4088	5966	SO:0001630	splice_region_variant	0			-	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2809+1G>C	19.37:g.1111506C>G			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	superfamily_P-loop_NTPase	p.R936	ENST00000361757.3	37	c.2808	CCDS45894.1	19																																																																																			-	SBNO2	-	NULL		0.652	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	0	0	0	88	88	47	0.00	0.00	C	NM_014963	Silent	1111506	-1	13	6	60	68	tier1	no_errors	ENST00000361757	ensembl	human	known	74_37	silent	17.81	8.11	SNP	0.991	G	13	60
TRPA1	8989	genome.wustl.edu	37	8	72967429	72967436	+	Intron	DEL	AGAATATT	AGAATATT	-	rs59090747|rs201714075|rs11273995|rs72413292|rs60722858	byFrequency	TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	AGAATATT	AGAATATT	AGAATATT	-	AGAATATT	AGAATATT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:72967429_72967436delAGAATATT	ENST00000262209.4	-	12	1737				RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTCTGTGAACAGAATATTCTTGAACAAG	0.327													ENSG00000235531																																					0																																										SO:0001627	intron_variant	0				Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1529+234AATATTCT>-	8.37:g.72967429_72967436delAGAATATT			A6NIN6	R	DEL	-	NULL	ENST00000262209.4	37	NULL	CCDS34908.1	8																																																																																				RP11-383H13.1	-	-		0.327	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132891	Clone_based_vega_gene	protein_coding	OTTHUMT00000379079.2	1	1	1	12	12	12	7.69	7.69	AGAATATT	NM_007332		72967436	+1	13	13	32	32	tier1	no_errors	ENST00000457356	ensembl	human	known	74_37	rna	28.89	28.89	DEL	0.376:0.321:0.267:0.212:0.159:0.106:0.053:0.000	-	13	32
BRD9	65980	genome.wustl.edu	37	5	891803	891805	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr5:891803_891805delCTT	ENST00000467963.1	-	2	383_385	c.217_219delAAG	c.(217-219)aagdel	p.K73del	BRD9_ENST00000483173.1_In_Frame_Del_p.R21del|BRD9_ENST00000388890.4_5'Flank|BRD9_ENST00000435709.2_5'UTR|BRD9_ENST00000323510.4_5'Flank|TRIP13_ENST00000166345.3_5'Flank	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	73	Lys-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CCTTCTCGGActtcttcttcttc	0.547													ENSG00000028310																																					0									,	4,2404		0,4,1200					,	0.7	0.8			98	16,4654		3,10,2322	no	coding,coding	BRD9	NM_023924.4,NM_001009877.2	,	3,14,3522	A1A1,A1R,RR		0.3426,0.1661,0.2826	,	,		20,7058				SO:0001651	inframe_deletion	0				AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.217_219delAAG	5.37:g.891812_891814delCTT	ENSP00000419765:p.Lys73del		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	In_Frame_Del	DEL	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K73in_frame_del	ENST00000467963.1	37	c.219_217	CCDS34127.2	5																																																																																				BRD9	-	NULL		0.547	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	0	0	0	94	94	23	0.00	0.00	CTT	NM_023924		891805	-1	2	0	16	3	tier1	no_errors	ENST00000467963	ensembl	human	known	74_37	in_frame_del	11.11	0.00	DEL	0.975:1.000:1.000	-	2	16
CYP11B1	1584	genome.wustl.edu	37	8	143956378	143956380	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:143956378_143956380delGCA	ENST00000292427.4	-	8	1423_1425	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del	CYP11B1_ENST00000377675.3_In_Frame_Del_p.L535del|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	464					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCACATGGTGCAGCAGCAGCAG	0.68									Familial Hyperaldosteronism type I				ENSG00000160882																																					0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I		D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1391_1393delTGC	8.37:g.143956387_143956389delGCA	ENSP00000292427:p.Leu464del		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	In_Frame_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.L464in_frame_del	ENST00000292427.4	37	c.1393_1391	CCDS6392.1	8																																																																																				CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.680	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	0	0	0	78	78	6	0.00	0.00	GCA			143956380	-1	4	0	30	5	tier1	no_errors	ENST00000292427	ensembl	human	known	74_37	in_frame_del	11.76	0.00	DEL	1.000:1.000:1.000	-	4	30
EMC7	56851	genome.wustl.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665													ENSG00000134153																																					0																																										SO:0001651	inframe_deletion	0				AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del		B2RC00|Q96ED5	In_Frame_Del	DEL	pfam_DUF2012,superfamily_Carb-bd-like_fold	p.L17in_frame_del	ENST00000256545.4	37	c.50_48	CCDS10032.1	15																																																																																				EMC7	-	NULL		0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EMC7	HGNC	protein_coding	OTTHUMT00000251519.1	0	0	0	47	47	11	0.00	0.00	AGC	NM_020154		34393993	-1	2	0	14	8	tier1	no_errors	ENST00000256545	ensembl	human	known	74_37	in_frame_del	12.50	0.00	DEL	0.275:0.430:0.449	-	2	14
ZNF395	55893	genome.wustl.edu	37	8	28207583	28207584	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:28207583_28207584delGA	ENST00000344423.5	-	8	1454_1455	c.1323_1324delTC	c.(1321-1326)tctccgfs	p.P442fs	ZNF395_ENST00000523095.1_Frame_Shift_Del_p.P442fs|ZNF395_ENST00000523202.1_Frame_Shift_Del_p.P442fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		ACACTCACCGGAGAGAGAGAGC	0.673													ENSG00000186918																																					0																																										SO:0001589	frameshift_variant	0				AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1323_1324delTC	8.37:g.28207591_28207592delGA	ENSP00000340494:p.Pro442fs		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Frame_Shift_Del	DEL	pfscan_Znf_C2H2	p.P442fs	ENST00000344423.5	37	c.1324_1323	CCDS6067.1	8																																																																																				ZNF395	-	NULL		0.673	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1	0	0	0	45	45	9	0.00	0.00	GA			28207584	-1	3	0	18	4	tier1	no_errors	ENST00000344423	ensembl	human	known	74_37	frame_shift_del	14.29	0.00	DEL	1.000:0.971	-	3	18
DMRTB1	63948	genome.wustl.edu	37	1	53925373	53925374	+	In_Frame_Ins	INS	-	-	CCGCCC	rs558152882|rs575081928	byFrequency	TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:53925373_53925374insCCGCCC	ENST00000371445.3	+	1	302_303	c.247_248insCCGCCC	c.(247-249)gcc>gCCGCCCcc	p.87_88insAP		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	87	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						GGCTGCGgccgccgcccccgcc	0.807													ENSG00000143006		538	0.107428	0.034	0.0893	5008	,	,		6054	0.1567		0.1233	False		,,,				2504	0.1524																0																																										SO:0001652	inframe_insertion	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.254_259dupCCGCCC	1.37:g.53925374_53925379dupCCGCCC	ENSP00000360500:p.Ala86_Pro87dup		Q96SD2	In_Frame_Ins	INS	pfam_DM_D-bd,superfamily_DM_D-bd,smart_DM_D-bd,pfscan_DM_D-bd	p.87in_frame_insPA	ENST00000371445.3	37	c.247_248	CCDS581.1	1																																																																																				DMRTB1	-	NULL		0.807	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTB1	HGNC	protein_coding	OTTHUMT00000022110.1	0	0	0	0	0	0	0.00	0.00	-			53925374	+1	0	0	0	0	tier1	no_errors	ENST00000371445	ensembl	human	known	74_37	in_frame_ins	0.00	0.00	INS	0.002:0.001	CCGCCC	0	0
AGAP1	116987	genome.wustl.edu	37	2	236480576	236480577	+	Intron	INS	-	-	TGTGTGTGTGTG	rs141898525|rs371400174	byFrequency	TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr2:236480576_236480577insTGTGTGTGTGTG	ENST00000304032.8	+	1	743				AGAP1_ENST00000409457.1_Intron|AC012305.1_ENST00000408777.1_RNA|AGAP1_ENST00000336665.5_Intron	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCCCACACTTtgtgtgtgtgt	0.441													ENSG00000221704		1304	0.260383	0.1762	0.2925	5008	,	,		11270	0.1776		0.3121	False		,,,				2504	0.3834																0																																										SO:0001627	intron_variant	0				AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.163+77083->TGTGTGTGTGTG	2.37:g.236480576_236480577insTGTGTGTGTGTG			B2RTX7|Q541S5|Q6P9D7|Q9NV93	R	INS	-	NULL	ENST00000304032.8	37	NULL	CCDS33408.1	2																																																																																				AC012305.1	-	-		0.441	AGAP1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000221704	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000257076.2	0	0	0	0	0	0	0.00	0.00	-	NM_014914		236480577	+1	0	0	0	0	tier1	no_errors	ENST00000408777	ensembl	human	novel	74_37	rna	0.00	0.00	INS	0.083:0.055	TGTGTGTGTGTG	0	0
KRT18	3875	genome.wustl.edu	37	12	53343288	53343288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr12:53343288delA	ENST00000388835.3	+	1	541	c.331delA	c.(331-333)aaafs	p.K111fs	KRT18_ENST00000388837.2_Frame_Shift_Del_p.K111fs|KRT8_ENST00000552551.1_5'UTR|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000546897.1_Intron|KRT18_ENST00000550600.1_Frame_Shift_Del_p.K111fs|KRT8_ENST00000549198.1_5'UTR	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	111	Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCTGGAGAGCAAAATCCGGGA	0.577													ENSG00000111057																																					0													29.0	35.0	33.0					12																	53343288		2203	4294	6497	SO:0001589	frameshift_variant	0					CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.331delA	12.37:g.53343288delA	ENSP00000373487:p.Lys111fs		Q53G38|Q5U0N8|Q9BW26	Frame_Shift_Del	DEL	pfam_IF,prints_Keratin_I	p.I112fs	ENST00000388835.3	37	c.331	CCDS31809.1	12																																																																																				KRT18	-	pfam_IF		0.577	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	0	0	0	53	53	0	0.00	0.00	A	NM_199187		53343288	+1	2	0	21	0	tier1	no_errors	ENST00000388835	ensembl	human	known	74_37	frame_shift_del	8.70	0.00	DEL	1.000	-	2	21
RRAGD	58528	genome.wustl.edu	37	6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gaggat>gat	p.E22del	RRAGD_ENST00000492783.1_5'Flank|RRAGD_ENST00000359203.3_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754													ENSG00000025039																																					0										97,9,3788		4,0,89,2,5,1847						0.6	1.0			17	184,8,7442		9,0,166,1,6,3635	no	codingComplex	RRAGD	NM_021244.4		13,0,255,3,11,5482	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5151,2.7221,2.585				281,17,11230				SO:0001651	inframe_deletion	0				AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.66_68delGGA	6.37:g.90121654_90121656delTCC	ENSP00000358423:p.Glu22del			In_Frame_Del	DEL	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.E22in_frame_del	ENST00000369415.4	37	c.68_66	CCDS5022.1	6																																																																																				RRAGD	-	NULL		0.754	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGD	HGNC	protein_coding	OTTHUMT00000041484.1	0	0	0	39	39	2	0.00	0.00	TCC	NM_021244		90121647	-1	2	0	18	1	tier1	no_errors	ENST00000369415	ensembl	human	known	74_37	in_frame_del	10.00	0.00	DEL	0.998:1.000:0.999	-	2	18
DPP10	57628	genome.wustl.edu	37	2	116510794	116510794	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr2:116510794C>A	ENST00000410059.1	+	11	1475	c.995C>A	c.(994-996)aCt>aAt	p.T332N	DPP10_ENST00000409163.1_Missense_Mutation_p.T282N|DPP10_ENST00000393147.2_Missense_Mutation_p.T336N|DPP10_ENST00000310323.8_Missense_Mutation_p.T325N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	332						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATACCAAGACTGTGGTAAGA	0.358													ENSG00000175497																																					0													120.0	106.0	111.0					2																	116510794		2203	4300	6503	SO:0001583	missense	0			-	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.995C>A	2.37:g.116510794C>A	ENSP00000386565:p.Thr332Asn		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T336N	ENST00000410059.1	37	c.1007	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775007	0.49786	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.1	4.23	0.50019	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.176474	0.49305	D	0.000159	T	0.31358	0.0794	L	0.44542	1.39	0.40509	D	0.980725	B;P;B;B	0.46512	0.244;0.879;0.408;0.288	B;P;B;B	0.44623	0.162;0.455;0.251;0.251	T	0.18681	-1.0329	10	0.87932	D	0	-29.0265	12.7723	0.57427	0.0:0.9215:0.0:0.0785	.	325;336;328;332	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	332;282;336;325;282	ENSP00000386565:T332N;ENSP00000387038:T282N;ENSP00000376855:T336N;ENSP00000309066:T325N	ENSP00000309066:T325N	T	+	2	0	DPP10	116227264	1.000000	0.71417	0.900000	0.35374	0.986000	0.74619	4.485000	0.60279	1.386000	0.46466	0.650000	0.86243	ACT	-	DPP10	-	pfam_Peptidase_S9B		0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	0	0	0	62	62	48	0.00	0.00	C	NM_020868		116510794	+1	9	3	91	101	tier1	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	9.00	2.88	SNP	0.969	A	9	91
