#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC6	368	genome.wustl.edu	37	16	16315440	16315440	+	Intron	SNP	G	G	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr16:16315440G>C	ENST00000205557.7	-	2	249				RP11-517A5.7_ENST00000574883.1_RNA|ABCC6_ENST00000575728.1_Missense_Mutation_p.N95K|ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6						response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	ACTTCACCAGGTTCCAGCCTG	0.522																																						dbGAP											0													15.0	16.0	16.0					16																	16315440		1320	2306	3626	-	-	-	SO:0001627	intron_variant	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.219+65C>G	16.37:g.16315440G>C			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	NULL	p.N95K	ENST00000205557.7	37	c.285	CCDS10568.1	16																																																																																			ABCC6	-	NULL	ENSG00000091262		0.522	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	77	0.00	0	G			16315440	16315440	-1	no_errors	ENST00000575728	ensembl	human	putative	69_37n	missense	11	26.67	4	SNP	0.005	C
ACSF2	80221	genome.wustl.edu	37	17	48548486	48548487	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr17:48548486_48548487delCT	ENST00000300441.4	+	11	1417_1418	c.1313_1314delCT	c.(1312-1314)cctfs	p.P438fs	ACSF2_ENST00000504392.1_Frame_Shift_Del_p.P395fs|CHAD_ENST00000258969.4_5'Flank|ACSF2_ENST00000506085.1_3'UTR|CHAD_ENST00000508540.1_5'Flank|ACSF2_ENST00000427954.2_Frame_Shift_Del_p.P463fs|ACSF2_ENST00000541920.1_Frame_Shift_Del_p.P278fs|ACSF2_ENST00000502667.1_Frame_Shift_Del_p.P425fs	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	438					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGAATTATGCCTCACACGGAGG	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1313_1314delCT	17.37:g.48548486_48548487delCT	ENSP00000300441:p.Pro438fs		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig	p.T440fs	ENST00000300441.4	37	c.1313_1314	CCDS11567.1	17																																																																																			ACSF2	-	pfam_AMP-dep_Synth/Lig	ENSG00000167107		0.574	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	75	0.00	0	CT	NM_025149		48548486	48548487	+1	no_errors	ENST00000300441	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	0.987:0.969	-
ACTL6B	51412	genome.wustl.edu	37	7	100246265	100246265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr7:100246265delC	ENST00000160382.5	-	7	689	c.583delG	c.(583-585)gcafs	p.A195fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	195					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AAGTCCCCTGCCAGAGGGGAC	0.617																																						dbGAP											0													64.0	57.0	59.0					7																	100246265		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.583delG	7.37:g.100246265delC	ENSP00000160382:p.Ala195fs		A4D2D0|O75421	Frame_Shift_Del	DEL	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.A195fs	ENST00000160382.5	37	c.583	CCDS5702.1	7																																																																																			ACTL6B	-	pfam_Actin-like,smart_Actin-like	ENSG00000077080		0.617	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6B	HGNC	protein_coding	OTTHUMT00000356745.1	98	0.00	0	C	NM_016188		100246265	100246265	-1	no_errors	ENST00000160382	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
ARHGAP5	394	genome.wustl.edu	37	14	32560757	32560757	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr14:32560757T>A	ENST00000345122.3	+	2	1197	c.882T>A	c.(880-882)agT>agA	p.S294R	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S294R|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S294R|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S294R|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	294	FF 1.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.S294R(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAACTGTTAGTAATAAATTAA	0.318																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											1	Substitution - Missense(1)	breast(1)											78.0	90.0	86.0					14																	32560757		2197	4283	6480	-	-	-	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.882T>A	14.37:g.32560757T>A	ENSP00000371897:p.Ser294Arg		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.S294R	ENST00000345122.3	37	c.882	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259038	0.39896	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.64	5.64	0.86602	FF domain (1);	0.135961	0.64402	D	0.000005	T	0.24967	0.0606	L	0.50333	1.59	0.51767	D	0.99993	P;P	0.52170	0.951;0.919	P;P	0.58928	0.848;0.709	T	0.00258	-1.1871	10	0.56958	D	0.05	.	15.8548	0.78968	0.0:0.0:0.0:1.0	.	294;294	Q13017-2;Q13017	.;RHG05_HUMAN	R	294	ENSP00000452222:S294R;ENSP00000441692:S294R;ENSP00000371897:S294R;ENSP00000393307:S294R	ENSP00000371897:S294R	S	+	3	2	ARHGAP5	31630508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.328000	0.33758	2.138000	0.66242	0.460000	0.39030	AGT	ARHGAP5	-	superfamily_FF_domain,smart_FF_domain	ENSG00000100852		0.318	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	62	0.00	0	T	NM_001030055		32560757	32560757	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	missense	63	25.00	21	SNP	1.000	A
BMX	660	genome.wustl.edu	37	X	15568080	15568080	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chrX:15568080C>T	ENST00000357607.2	+	18	2101	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L	BMX_ENST00000342014.6_Missense_Mutation_p.S638L|BMX_ENST00000348343.6_Missense_Mutation_p.S638L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	638	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.S638L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CACCTGGCATCGGACACCATC	0.582													C|||	1	0.000264901	0.0	0.0	3775	,	,		13284	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	134.0	142.0					X																	15568080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1913C>T	X.37:g.15568080C>T	ENSP00000350224:p.Ser638Leu		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.S638L	ENST00000357607.2	37	c.1913	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596378	0.66332	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.90197	-2.63;-2.63;-2.63	5.68	4.82	0.62117	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.110608	0.41194	D	0.000935	D	0.94076	0.8101	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88605	0.3152	10	0.52906	T	0.07	.	14.506	0.67752	0.0:0.8564:0.1436:0.0	.	638	P51813	BMX_HUMAN	L	638	ENSP00000350224:S638L;ENSP00000308774:S638L;ENSP00000340082:S638L	ENSP00000340082:S638L	S	+	2	0	BMX	15478001	0.774000	0.28592	0.019000	0.16419	0.873000	0.50193	2.346000	0.44027	1.157000	0.42530	0.594000	0.82650	TCG	BMX	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000102010		0.582	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	163	0.00	0	C	NM_001721		15568080	15568080	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	0.055	T
CFAP61	26074	genome.wustl.edu	37	20	20269354	20269354	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr20:20269354C>A	ENST00000245957.5	+	23	2974	c.2898C>A	c.(2896-2898)aaC>aaA	p.N966K	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		966								p.N966K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTGATACCAACTTCCACACCA	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											185.0	170.0	175.0					20																	20269354		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000245957.5:c.2898C>A	20.37:g.20269354C>A	ENSP00000245957:p.Asn966Lys		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.N966K	ENST00000245957.5	37	c.2898	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494160	0.26774	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.41400	1.0	5.75	1.13	0.20643	.	0.472179	0.22226	N	0.062898	T	0.24624	0.0597	L	0.39898	1.24	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.13176	-1.0519	10	0.05833	T	0.94	.	6.1047	0.20067	0.1894:0.521:0.0:0.2897	.	966	Q8NHU2	CT026_HUMAN	K	906;932;966	ENSP00000245957:N966K	ENSP00000245957:N966K	N	+	3	2	C20orf26	20217354	0.000000	0.05858	0.676000	0.29932	0.935000	0.57460	-0.203000	0.09438	0.374000	0.24650	-0.133000	0.14855	AAC	C20orf26	-	NULL	ENSG00000089101		0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	70	0.00	0	C			20269354	20269354	+1	no_errors	ENST00000245957	ensembl	human	known	69_37n	missense	37	30.19	16	SNP	0.030	A
ZGRF1	55345	genome.wustl.edu	37	4	113539671	113539671	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr4:113539671A>T	ENST00000505019.1	-	6	1652	c.1527T>A	c.(1525-1527)gaT>gaA	p.D509E	C4orf21_ENST00000445203.2_Missense_Mutation_p.D478E|C4orf21_ENST00000309071.5_Missense_Mutation_p.D509E	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		509						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D509E(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GACTTTCATTATCCATTTTAC	0.328																																						dbGAP											2	Substitution - Missense(2)	breast(2)											83.0	83.0	83.0					4																	113539671		2202	4300	6502	-	-	-	SO:0001583	missense	0																														ENST00000505019.1:c.1527T>A	4.37:g.113539671A>T	ENSP00000424737:p.Asp509Glu		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.D509E	ENST00000505019.1	37	c.1527		4	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106038	0.37145	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81659	-1.52;1.97;1.55	5.42	-9.87	0.00470	.	0.518843	0.18796	N	0.130937	T	0.53948	0.1828	L	0.38838	1.175	0.09310	N	1	B;B	0.21071	0.051;0.018	B;B	0.14578	0.01;0.011	T	0.54781	-0.8242	10	0.09590	T	0.72	-4.3272	2.1693	0.03846	0.419:0.1532:0.3083:0.1195	.	509;509	Q86YA3;G5EA02	CD021_HUMAN;.	E	509;509;478	ENSP00000424737:D509E;ENSP00000309095:D509E;ENSP00000390505:D478E	ENSP00000309095:D509E	D	-	3	2	C4orf21	113759120	0.000000	0.05858	0.000000	0.03702	0.709000	0.40893	-0.507000	0.06352	-1.167000	0.02779	0.455000	0.32223	GAT	C4orf21	-	NULL	ENSG00000138658		0.328	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	101	0.00	0	A			113539671	113539671	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	missense	89	37.76	54	SNP	0.000	T
CACNA1E	777	genome.wustl.edu	37	1	181688931	181688931	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr1:181688931A>C	ENST00000367573.2	+	13	1683	c.1683A>C	c.(1681-1683)agA>agC	p.R561S	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R512S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R561S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R561S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R168S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R561S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R512S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	561					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R561S(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAATCTTCAGACCTGGTACGT	0.478																																						dbGAP											2	Substitution - Missense(2)	breast(2)											140.0	124.0	129.0					1																	181688931		1957	4143	6100	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1683A>C	1.37:g.181688931A>C	ENSP00000356545:p.Arg561Ser		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R561S	ENST00000367573.2	37	c.1683	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363863	0.82353	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88	5.46	4.32	0.51571	.	0.095116	0.85682	D	0.000000	D	0.95287	0.8471	N	0.04245	-0.25	0.58432	D	0.999997	D;D	0.60575	0.988;0.988	P;P	0.53861	0.736;0.736	D	0.94881	0.8039	10	0.72032	D	0.01	.	9.8313	0.40944	0.9137:0.0:0.0862:0.0	.	561;561	Q15878-2;Q15878-3	.;.	S	561;561;512;512;168;561;561	ENSP00000356542:R561S;ENSP00000434814:R561S;ENSP00000350183:R512S;ENSP00000351101:R512S;ENSP00000356539:R168S;ENSP00000353222:R561S;ENSP00000356545:R561S	ENSP00000350183:R512S	R	+	3	2	CACNA1E	179955554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.919000	0.40015	0.899000	0.36444	0.533000	0.62120	AGA	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	191	0.00	0	A	NM_000721		181688931	181688931	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	107	10.83	13	SNP	1.000	C
CD248	57124	genome.wustl.edu	37	11	66082629	66082629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr11:66082629G>A	ENST00000311330.3	-	1	1886	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	624	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.Q624*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GTGGGGCTCTGAGAGGGCAGG	0.627																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											48.0	57.0	54.0					11																	66082629		2200	4295	6495	-	-	-	SO:0001587	stop_gained	0			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1870C>T	11.37:g.66082629G>A	ENSP00000308117:p.Gln624*		Q2M2V5|Q3SX55|Q96KB6	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_C-type_lectin	p.Q624*	ENST00000311330.3	37	c.1870	CCDS8134.1	11	.	.	.	.	.	.	.	.	.	.	G	17.04	3.285950	0.59867	.	.	ENSG00000174807	ENST00000311330	.	.	.	3.13	1.11	0.20524	.	1.328570	0.06301	U	0.701018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.766	10.6545	0.45667	0.0:0.3703:0.6297:0.0	.	.	.	.	X	624	.	ENSP00000308117:Q624X	Q	-	1	0	CD248	65839205	0.124000	0.22315	0.152000	0.22495	0.481000	0.33189	2.033000	0.41136	0.131000	0.18576	0.460000	0.39030	CAG	CD248	-	NULL	ENSG00000174807		0.627	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2	105	0.00	0	G	NM_020404		66082629	66082629	-1	no_errors	ENST00000311330	ensembl	human	known	69_37n	nonsense	10	52.38	11	SNP	0.405	A
CD3E	916	genome.wustl.edu	37	11	118185202	118185202	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr11:118185202A>G	ENST00000361763.4	+	8	851	c.560A>G	c.(559-561)gAc>gGc	p.D187G	CD3E_ENST00000528600.1_Missense_Mutation_p.D181G	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	187	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.D187G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CCCAACCCAGACTATGAGGTA	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											70.0	53.0	59.0					11																	118185202		2200	4296	6496	-	-	-	SO:0001583	missense	0			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.560A>G	11.37:g.118185202A>G	ENSP00000354566:p.Asp187Gly		A8K997	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.D187G	ENST00000361763.4	37	c.560	CCDS31685.1	11	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014343	0.75161	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.45668	0.89;0.89	4.76	4.76	0.60689	.	0.056974	0.64402	D	0.000002	T	0.58836	0.2150	M	0.68952	2.095	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.56763	-0.7925	10	0.33141	T	0.24	-28.061	10.8454	0.46741	1.0:0.0:0.0:0.0	.	187	P07766	CD3E_HUMAN	G	187;181	ENSP00000354566:D187G;ENSP00000433975:D181G	ENSP00000354566:D187G	D	+	2	0	CD3E	117690412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.616000	0.61197	2.124000	0.65301	0.459000	0.35465	GAC	CD3E	-	pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	ENSG00000198851		0.552	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD3E	HGNC	protein_coding	OTTHUMT00000392120.1	62	0.00	0	A	NM_000733		118185202	118185202	+1	no_errors	ENST00000361763	ensembl	human	known	69_37n	missense	7	61.11	11	SNP	1.000	G
CLASP1	23332	genome.wustl.edu	37	2	122106150	122106152	+	In_Frame_Del	DEL	CGA	CGA	-			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	CGA	CGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr2:122106150_122106152delCGA	ENST00000263710.4	-	38	4738_4740	c.4349_4351delTCG	c.(4348-4353)gtcgag>gag	p.V1450del	CLASP1_ENST00000397587.3_In_Frame_Del_p.V1390del|CLASP1_ENST00000541859.1_In_Frame_Del_p.V1167del|CLASP1_ENST00000409078.3_In_Frame_Del_p.V1383del|CLASP1_ENST00000541377.1_In_Frame_Del_p.V1389del|CLASP1_ENST00000455322.2_In_Frame_Del_p.V1406del|CLASP1_ENST00000545861.1_In_Frame_Del_p.V1157del	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1450	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.V1450V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCGATCCTCTCGACGACTTTGGT	0.601																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4349_4351delTCG	2.37:g.122106153_122106155delCGA	ENSP00000263710:p.Val1450del		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	In_Frame_Del	DEL	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V1450in_frame_del	ENST00000263710.4	37	c.4351_4349		2																																																																																			CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.601	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		111	0.00	0	CGA	NM_015282		122106150	122106152	-1	no_errors	ENST00000263710	ensembl	human	known	69_37n	in_frame_del	16	11.11	2	DEL	1.000:0.564:0.985	-
CNBD1	168975	genome.wustl.edu	37	8	88249321	88249321	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr8:88249321T>A	ENST00000518476.1	+	6	803	c.752T>A	c.(751-753)cTa>cAa	p.L251Q	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	251								p.L251Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAGATGTACCTACCTTCATAT	0.378																																						dbGAP											2	Substitution - Missense(2)	breast(2)											79.0	73.0	75.0					8																	88249321		1861	4089	5950	-	-	-	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.752T>A	8.37:g.88249321T>A	ENSP00000430073:p.Leu251Gln			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L251Q	ENST00000518476.1	37	c.752	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441890	0.25900	.	.	ENSG00000176571	ENST00000518476	T	0.19669	2.13	3.7	-4.81	0.03180	Cyclic nucleotide-binding-like (1);	3.967350	0.00744	N	0.001024	T	0.13286	0.0322	L	0.29908	0.895	0.09310	N	1	P	0.39964	0.697	B	0.35353	0.201	T	0.19418	-1.0306	10	0.25751	T	0.34	0.5741	7.2951	0.26389	0.0:0.5562:0.1675:0.2764	.	251	Q8NA66	CNBD1_HUMAN	Q	251	ENSP00000430073:L251Q	ENSP00000430073:L251Q	L	+	2	0	CNBD1	88318437	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.348000	0.07740	-1.011000	0.03391	0.459000	0.35465	CTA	CNBD1	-	superfamily_cNMP-bd-like	ENSG00000176571		0.378	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	88	0.00	0	T	NM_173538		88249321	88249321	+1	no_errors	ENST00000518476	ensembl	human	known	69_37n	missense	46	61.16	74	SNP	0.000	A
CNNM2	54805	genome.wustl.edu	37	10	104816543	104816543	+	Intron	SNP	T	T	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr10:104816543T>C	ENST00000369878.4	+	4	2091				CNNM2_ENST00000433628.2_Intron	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2						magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTTGTGTTTATATCTATAGAA	0.333																																						dbGAP											1	Unknown(1)	breast(1)											41.0	40.0	40.0					10																	104816543		1873	4116	5989	-	-	-	SO:0001627	intron_variant	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1904-9T>C	10.37:g.104816543T>C			Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.I633T	ENST00000369878.4	37	c.1898	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666025	0.47677	.	.	ENSG00000148842	ENST00000457502;ENST00000433628	.	.	.	5.83	5.83	0.93111	.	0.478569	0.24139	N	0.041200	T	0.73473	0.3591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76258	-0.3025	6	0.72032	D	0.01	0.0678	12.8982	0.58111	0.0:0.0:0.1443:0.8557	.	.	.	.	T	633	.	ENSP00000392875:I633T	I	+	2	0	CNNM2	104806533	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.353000	0.66034	2.231000	0.72958	0.459000	0.35465	ATA	CNNM2	-	NULL	ENSG00000148842		0.333	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	72	0.00	0	T	NM_017649		104816543	104816543	+1	no_errors	ENST00000457502	ensembl	human	known	69_37n	missense	29	48.21	27	SNP	1.000	C
COG5	10466	genome.wustl.edu	37	7	106877126	106877126	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr7:106877126T>A	ENST00000347053.3	-	17	1940	c.1890A>T	c.(1888-1890)ttA>ttT	p.L630F	COG5_ENST00000297135.3_Missense_Mutation_p.L651F|COG5_ENST00000393603.2_Missense_Mutation_p.L651F	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	630					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.L651F(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTGAGCTGGATAATGACCTGT	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											83.0	80.0	81.0					7																	106877126		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1890A>T	7.37:g.106877126T>A	ENSP00000334703:p.Leu630Phe		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.L651F	ENST00000347053.3	37	c.1953	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	T	11.43	1.637333	0.29157	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.56941	0.43;0.43;0.43	5.49	-1.18	0.09617	.	1.458410	0.03775	N	0.260340	T	0.51109	0.1655	L	0.56769	1.78	0.24927	N	0.991949	B;B	0.33919	0.257;0.432	B;B	0.38755	0.075;0.281	T	0.46512	-0.9186	10	0.54805	T	0.06	2.3082	5.496	0.16804	0.1324:0.3823:0.0:0.4853	.	630;651	Q9UP83;Q9UP83-2	COG5_HUMAN;.	F	630;651;651	ENSP00000334703:L630F;ENSP00000297135:L651F;ENSP00000377228:L651F	ENSP00000297135:L651F	L	-	3	2	COG5	106664362	0.016000	0.18221	0.006000	0.13384	0.950000	0.60333	0.141000	0.16076	-0.195000	0.10382	0.455000	0.32223	TTA	COG5	-	NULL	ENSG00000164597		0.408	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	89	0.00	0	T			106877126	106877126	-1	no_errors	ENST00000297135	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	0.001	A
CSNK1E	1454	genome.wustl.edu	37	22	38694855	38694855	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr22:38694855C>T	ENST00000396832.1	-	7	1081	c.821G>A	c.(820-822)cGc>cAc	p.R274H	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R274H|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R274H|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R274H|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R274H|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R274H	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R274H(3)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GAAGAGGTTGCGGAAGAGCTG	0.562											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	dbGAP											3	Substitution - Missense(3)	breast(3)											183.0	170.0	174.0					22																	38694855		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.821G>A	22.37:g.38694855C>T	ENSP00000380044:p.Arg274His	880		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R274H	ENST00000396832.1	37	c.821	CCDS13970.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.410247|5.410247	0.96072|0.96072	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000451964|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675	.|T;T;T;T;T;T	.|0.10288	.|2.89;2.89;2.89;2.89;2.89;2.89	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.098954	.|0.64402	.|D	.|0.000005	T|T	0.41465|0.41465	0.1160|0.1160	M|M	0.89030|0.89030	3|3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.72982	.|0.916;0.977;0.979	T|T	0.50767|0.50767	-0.8789|-0.8789	5|10	.|0.72032	.|D	.|0.01	.|.	18.626|18.626	0.91338|0.91338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|274;274;274	.|B0QY35;B0QY34;P49674	.|.;.;KC1E_HUMAN	T|H	212|274	.|ENSP00000352929:R274H;ENSP00000380044:R274H;ENSP00000383067:R274H;ENSP00000384074:R274H;ENSP00000407235:R274H;ENSP00000384426:R274H	.|ENSP00000352929:R274H	A|R	-|-	1|2	0|0	CSNK1E|CSNK1E	37024801|37024801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.785000|7.785000	0.85724|0.85724	2.398000|2.398000	0.81561|0.81561	0.655000|0.655000	0.94253|0.94253	GCA|CGC	CSNK1E	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000213923		0.562	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1E	HGNC	protein_coding	OTTHUMT00000321462.1	124	0.79	1	C	NM_001894		38694855	38694855	-1	no_errors	ENST00000359867	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	1.000	T
DNAH17	8632	genome.wustl.edu	37	17	76490785	76490785	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr17:76490785A>C	ENST00000585328.1	-	40	6269	c.6145T>G	c.(6145-6147)Ttc>Gtc	p.F2049V	DNAH17_ENST00000389840.5_Missense_Mutation_p.F2040V|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2040					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F2049V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGATGTTGAAGTCTCTCAGC	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											64.0	73.0	70.0					17																	76490785		2137	4273	6410	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6145T>G	17.37:g.76490785A>C	ENSP00000465516:p.Phe2049Val		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.F2040V	ENST00000585328.1	37	c.6118		17	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386959	0.82902	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.20332	2.08	4.24	4.24	0.50183	.	.	.	.	.	T	0.31765	0.0807	L	0.47190	1.495	0.47407	D	0.999413	.	.	.	.	.	.	T	0.06972	-1.0797	7	0.72032	D	0.01	.	13.4948	0.61419	1.0:0.0:0.0:0.0	.	.	.	.	V	2049;2040	ENSP00000374490:F2040V	ENSP00000300671:F2049V	F	-	1	0	DNAH17	74002380	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	7.098000	0.76974	1.763000	0.52060	0.418000	0.28097	TTC	DNAH17	-	NULL	ENSG00000187775		0.627	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	60	0.00	0	A	NM_173628		76490785	76490785	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	2	66.67	4	SNP	1.000	C
EIF4ENIF1	56478	genome.wustl.edu	37	22	31867874	31867874	+	Silent	SNP	G	G	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr22:31867874G>C	ENST00000397525.1	-	3	349	c.126C>G	c.(124-126)ccC>ccG	p.P42P	EIF4ENIF1_ENST00000397523.1_Silent_p.P42P|EIF4ENIF1_ENST00000344710.5_Silent_p.P42P|EIF4ENIF1_ENST00000330125.5_Silent_p.P42P	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	42						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.P42P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTGGAATGGGGGAGTTCTT	0.348																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											124.0	129.0	127.0					22																	31867874		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.126C>G	22.37:g.31867874G>C			B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	pfam_eIF4E_transporter	p.P42	ENST00000397525.1	37	c.126	CCDS13898.1	22																																																																																			EIF4ENIF1	-	pfam_eIF4E_transporter	ENSG00000184708		0.348	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	134	0.00	0	G	NM_019843		31867874	31867874	-1	no_errors	ENST00000330125	ensembl	human	known	69_37n	silent	189	24.70	62	SNP	0.985	C
FABP6	2172	genome.wustl.edu	37	5	159656619	159656619	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr5:159656619A>C	ENST00000402432.3	+	1	183	c.55A>C	c.(55-57)Atg>Ctg	p.M19L	FABP6_ENST00000393982.1_Missense_Mutation_p.M68L|FABP6_ENST00000393980.4_Missense_Mutation_p.M68L	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	19					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.M68L(1)|p.M19L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGAGTTCATGAAGCTCCT	0.542																																					Colon(29;562 677 12756 16385 20992)	dbGAP											2	Substitution - Missense(2)	breast(2)											157.0	140.0	146.0					5																	159656619		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.55A>C	5.37:g.159656619A>C	ENSP00000385433:p.Met19Leu		Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	superfamily_Calycin-like,prints_Fatty_acid-bd	p.M68L	ENST00000402432.3	37	c.202	CCDS4349.1	5	.	.	.	.	.	.	.	.	.	.	A	2.978	-0.210926	0.06140	.	.	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.18810	2.19;2.19;2.19	5.41	2.55	0.30701	Calycin-like (1);Cytosolic fatty-acid binding (2);Calycin (1);	0.365474	0.33534	N	0.004817	T	0.11067	0.0270	N	0.16266	0.395	0.32792	N	0.501002	B;B	0.11235	0.001;0.004	B;B	0.20767	0.004;0.031	T	0.19289	-1.0310	10	0.19147	T	0.46	-44.6485	7.5607	0.27849	0.7564:0.1488:0.0949:0.0	.	19;68	P51161;P51161-2	FABP6_HUMAN;.	L	68;68;19	ENSP00000377549:M68L;ENSP00000377551:M68L;ENSP00000385433:M19L	ENSP00000377549:M68L	M	+	1	0	FABP6	159589197	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.964000	0.29306	0.761000	0.33130	0.459000	0.35465	ATG	FABP6	-	superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000170231		0.542	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP6	HGNC	protein_coding	OTTHUMT00000320505.2	106	0.00	0	A	NM_001040442		159656619	159656619	+1	no_errors	ENST00000393980	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	0.999	C
HIRA	7290	genome.wustl.edu	37	22	19349295	19349295	+	Silent	SNP	C	C	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr22:19349295C>T	ENST00000263208.5	-	16	2191	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Silent_p.R601R|HIRA_ENST00000546308.1_Silent_p.R601R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	645	Interaction with CCNA1.|Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R645R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTTCCGAGGCCGCCCTTTCT	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											198.0	176.0	184.0					22																	19349295		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1935G>A	22.37:g.19349295C>T			Q05BU9|Q8IXN2	Silent	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R645	ENST00000263208.5	37	c.1935	CCDS13759.1	22																																																																																			HIRA	-	NULL	ENSG00000100084		0.532	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	170	0.00	0	C	NM_003325		19349295	19349295	-1	no_errors	ENST00000263208	ensembl	human	known	69_37n	silent	29	30.95	13	SNP	0.951	T
HLTF	6596	genome.wustl.edu	37	3	148793804	148793806	+	In_Frame_Del	DEL	GTT	GTT	-	rs200783692		TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr3:148793804_148793806delGTT	ENST00000310053.5	-	3	450_452	c.257_259delAAC	c.(256-261)caacga>cga	p.Q86del	HLTF_ENST00000494055.1_In_Frame_Del_p.Q86del|HLTF_ENST00000465259.1_In_Frame_Del_p.Q86del|HLTF_ENST00000392912.2_In_Frame_Del_p.Q86del	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	86					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q86delQ(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTAGGATCTCGTTGTAATGCAAC	0.286																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.257_259delAAC	3.37:g.148793804_148793806delGTT	ENSP00000308944:p.Gln86del		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	In_Frame_Del	DEL	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q86in_frame_del	ENST00000310053.5	37	c.259_257	CCDS33875.1	3																																																																																			HLTF	-	pfam_HIP116_Rad5p_N,smart_HIP116_Rad5p_N	ENSG00000071794		0.286	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	108	0.00	0	GTT			148793804	148793806	-1	no_errors	ENST00000310053	ensembl	human	known	69_37n	in_frame_del	255	29.43	108	DEL	1.000:1.000:1.000	-
IGSF5	150084	genome.wustl.edu	37	21	41137704	41137704	+	Frame_Shift_Del	DEL	C	C	-	rs139329372		TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr21:41137704delC	ENST00000380588.4	+	3	446	c.343delC	c.(343-345)cccfs	p.P115fs	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	115	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAATGTGGAGCCCAGTGATTC	0.557																																						dbGAP											0													117.0	94.0	102.0					21																	41137704		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.343delC	21.37:g.41137704delC	ENSP00000369962:p.Pro115fs			Frame_Shift_Del	DEL	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.S116fs	ENST00000380588.4	37	c.343	CCDS33562.1	21																																																																																			IGSF5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000183067		0.557	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IGSF5	HGNC	protein_coding	OTTHUMT00000195005.1	114	0.00	0	C			41137704	41137704	+1	no_errors	ENST00000380588	ensembl	human	novel	69_37n	frame_shift_del	15	11.76	2	DEL	0.002	-
MORC2	22880	genome.wustl.edu	37	22	31336819	31336819	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr22:31336819T>C	ENST00000397641.3	-	10	1238	c.830A>G	c.(829-831)tAc>tGc	p.Y277C	MORC2_ENST00000215862.4_Missense_Mutation_p.Y215C|MORC2_ENST00000469915.1_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	277						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Y215C(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CGTGTACTTGTACATCCTGAT	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											224.0	177.0	193.0					22																	31336819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.830A>G	22.37:g.31336819T>C	ENSP00000380763:p.Tyr277Cys		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.Y277C	ENST00000397641.3	37	c.830		22	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818380	0.90790	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.74106	-0.81;-0.81	5.82	5.82	0.92795	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86887	0.6041	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88483	0.3070	10	0.72032	D	0.01	.	16.1761	0.81851	0.0:0.0:0.0:1.0	.	277	Q9Y6X9	MORC2_HUMAN	C	277;215	ENSP00000380763:Y277C;ENSP00000215862:Y215C	ENSP00000215862:Y215C	Y	-	2	0	MORC2	29666819	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.669000	0.83911	2.215000	0.71742	0.459000	0.35465	TAC	MORC2	-	superfamily_ATPase-like_ATP-bd	ENSG00000133422		0.567	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	HGNC	protein_coding	OTTHUMT00000321710.2	89	0.00	0	T	NM_014941		31336819	31336819	-1	no_errors	ENST00000397641	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	1.000	C
MTR	4548	genome.wustl.edu	37	1	237023140	237023140	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr1:237023140G>C	ENST00000366577.5	+	19	2355	c.1961G>C	c.(1960-1962)gGc>gCc	p.G654A	MTR_ENST00000535889.1_Missense_Mutation_p.G654A	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	654					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.G654A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CAGACTCAAGGCACAGGAGGG	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											125.0	118.0	121.0					1																	237023140		2203	4300	6503	-	-	-	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1961G>C	1.37:g.237023140G>C	ENSP00000355536:p.Gly654Ala		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.G654A	ENST00000366577.5	37	c.1961	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040295	0.08148	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;D	0.82984	-0.3;-0.27;-1.67	5.24	2.41	0.29592	.	0.182169	0.48767	D	0.000173	T	0.63838	0.2545	N	0.11341	0.13	0.31290	N	0.689551	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.58222	-0.7674	10	0.48119	T	0.1	-6.891	5.6326	0.17518	0.2476:0.2421:0.5103:0.0	.	654;654;654	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	A	508;654;654;208	ENSP00000355536:G654A;ENSP00000441845:G654A;ENSP00000355535:G208A	ENSP00000355535:G208A	G	+	2	0	MTR	235089763	0.999000	0.42202	0.791000	0.31998	0.042000	0.13812	1.820000	0.39032	0.382000	0.24878	-0.140000	0.14226	GGC	MTR	-	pirsf_MetH,tigrfam_MetH	ENSG00000116984		0.423	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	111	0.00	0	G	NM_000254		237023140	237023140	+1	no_errors	ENST00000366577	ensembl	human	known	69_37n	missense	95	23.39	29	SNP	0.831	C
MUC17	140453	genome.wustl.edu	37	7	100686212	100686212	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr7:100686212C>T	ENST00000306151.4	+	3	11579	c.11515C>T	c.(11515-11517)Cct>Tct	p.P3839S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3839					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P3839S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACACCTCCTGGTGATAC	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											112.0	100.0	104.0					7																	100686212		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11515C>T	7.37:g.100686212C>T	ENSP00000302716:p.Pro3839Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.P3839S	ENST00000306151.4	37	c.11515	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	7.900	0.734109	0.15574	.	.	ENSG00000169876	ENST00000306151	T	0.04049	3.72	0.747	-1.49	0.08718	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	D	0.53745	0.962	P	0.53146	0.719	T	0.11665	-1.0578	9	0.10111	T	0.7	.	0.1524	0.00094	0.2505:0.2565:0.2501:0.2429	.	3839	Q685J3	MUC17_HUMAN	S	3839	ENSP00000302716:P3839S	ENSP00000302716:P3839S	P	+	1	0	MUC17	100472932	0.000000	0.05858	0.001000	0.08648	0.491000	0.33493	-2.223000	0.01214	-1.884000	0.01119	0.187000	0.17357	CCT	MUC17	-	NULL	ENSG00000169876		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	94	0.00	0	C	NM_001040105		100686212	100686212	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	45	27.42	17	SNP	0.029	T
PALM2	114299	genome.wustl.edu	37	9	112705127	112705127	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr9:112705127G>A	ENST00000374531.2	+	7	636	c.562G>A	c.(562-564)Gta>Ata	p.V188I	PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.V186I|PALM2_ENST00000314527.4_Missense_Mutation_p.V220I|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.V222I|AKAP2_ENST00000510514.5_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	188					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.V188I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGGAGGCACCGTAGTAGAAAA	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	79.0	83.0					9																	112705127		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.562G>A	9.37:g.112705127G>A	ENSP00000363656:p.Val188Ile		A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin	p.V222I	ENST00000374531.2	37	c.664	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	G	6.643	0.487068	0.12641	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	6.16	-3.1	0.05315	.	.	.	.	.	T	0.16257	0.0391	L	0.54323	1.7	0.35920	D	0.831754	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.003	T	0.26121	-1.0112	9	0.19590	T	0.45	.	16.62	0.84927	0.0993:0.0:0.9007:0.0	.	188;222	Q8IXS6;D3YTA4	PALM2_HUMAN;.	I	188;222;186;220;220	ENSP00000363656:V188I;ENSP00000400206:V222I;ENSP00000417525:V186I;ENSP00000323805:V220I;ENSP00000397839:V220I	ENSP00000397839:V220I	V	+	1	0	PALM2-AKAP2;PALM2	111744948	0.989000	0.36119	0.331000	0.25455	0.914000	0.54420	0.408000	0.21065	-0.994000	0.03463	-0.355000	0.07637	GTA	PALM2	-	pfam_Paralemmin	ENSG00000243444		0.473	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2	HGNC	protein_coding	OTTHUMT00000053604.1	78	0.00	0	G	NM_001037293		112705127	112705127	+1	no_errors	ENST00000448454	ensembl	human	known	69_37n	missense	54	26.03	19	SNP	0.289	A
PATE4	399968	genome.wustl.edu	37	11	125708299	125708299	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr11:125708299A>G	ENST00000457514.2	+	3	318	c.274A>G	c.(274-276)Aga>Gga	p.R92G	PATE4_ENST00000534411.1_Missense_Mutation_p.R53G	NM_001144874.1	NP_001138346.1	P0C8F1	PATE4_HUMAN	prostate and testis expressed 4	92					regulation of synaptic transmission (GO:0050804)|response to wounding (GO:0009611)	acrosomal vesicle (GO:0001669)|extracellular space (GO:0005615)		p.R92G(2)		breast(1)	1						GTGCTGTGACAGAAACTTCTG	0.418																																						dbGAP											2	Substitution - Missense(2)	breast(2)											107.0	96.0	99.0					11																	125708299		692	1591	2283	-	-	-	SO:0001583	missense	0			AK123042	CCDS44765.1	11q24.2	2010-07-14			ENSG00000237353	ENSG00000237353		"""PATE family"""	35427	protein-coding gene	gene with protein product						18390568	Standard	NM_001144874		Approved	FLJ41047, PATE-B	uc001qcv.3	P0C8F1	OTTHUMG00000165235	ENST00000457514.2:c.274A>G	11.37:g.125708299A>G	ENSP00000411439:p.Arg92Gly			Missense_Mutation	SNP	NULL	p.R92G	ENST00000457514.2	37	c.274	CCDS44765.1	11	.	.	.	.	.	.	.	.	.	.	A	5.446	0.267306	0.10294	.	.	ENSG00000237353	ENST00000534411;ENST00000457514	D	0.89343	-2.5	1.11	1.11	0.20524	.	.	.	.	.	T	0.80639	0.4661	.	.	.	0.09310	N	1	B	0.24920	0.114	B	0.14578	0.011	T	0.70894	-0.4748	8	0.72032	D	0.01	.	4.4187	0.11470	1.0:0.0:0.0:0.0	.	92	P0C8F1	PATE4_HUMAN	G	53;92	ENSP00000411439:R92G	ENSP00000411439:R92G	R	+	1	2	PATE4	125213509	0.558000	0.26554	0.024000	0.17045	0.468000	0.32798	1.209000	0.32357	0.759000	0.33084	0.383000	0.25322	AGA	PATE4	-	NULL	ENSG00000237353		0.418	PATE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATE4	HGNC	protein_coding	OTTHUMT00000382865.1	113	0.00	0	A	NM_001144874		125708299	125708299	+1	no_errors	ENST00000457514	ensembl	human	known	69_37n	missense	27	44.90	22	SNP	0.040	G
PCDHA10	56139	genome.wustl.edu	37	5	140235801	140235801	+	Silent	SNP	G	G	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr5:140235801G>A	ENST00000307360.5	+	1	168	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A56A|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A56A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.617																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											53.0	61.0	58.0					5																	140235801		2197	4268	6465	-	-	-	SO:0001819	synonymous_variant	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.168G>A	5.37:g.140235801G>A			A1L493|O75280|Q9NRU2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A56	ENST00000307360.5	37	c.168	CCDS54921.1	5																																																																																			PCDHA10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.617	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	79	0.00	0	G	NM_018901		140235801	140235801	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	silent	7	58.82	10	SNP	0.000	A
PMEL	6490	genome.wustl.edu	37	12	56349080	56349080	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr12:56349080delC	ENST00000548747.1	-	10	2490	c.1828delG	c.(1828-1830)gtcfs	p.V610fs	PMEL_ENST00000449260.2_Frame_Shift_Del_p.V617fs|PMEL_ENST00000548493.1_Frame_Shift_Del_p.V610fs|PMEL_ENST00000550464.1_Frame_Shift_Del_p.V524fs|PMEL_ENST00000536427.1_Frame_Shift_Del_p.V575fs|PMEL_ENST00000539511.1_Frame_Shift_Del_p.V524fs|PMEL_ENST00000552882.1_Frame_Shift_Del_p.V610fs|PMEL_ENST00000360714.4_Frame_Shift_Del_p.V617fs|PMEL_ENST00000550447.1_Frame_Shift_Del_p.V239fs|PMEL_ENST00000548689.1_5'Flank			P40967	PMEL_HUMAN	premelanosome protein	610					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATGCAAGGACCACAGCCATC	0.507																																						dbGAP											0													220.0	198.0	205.0					12																	56349080		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1828delG	12.37:g.56349080delC	ENSP00000448828:p.Val610fs		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Frame_Shift_Del	DEL	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.V617fs	ENST00000548747.1	37	c.1849	CCDS8897.1	12																																																																																			PMEL	-	NULL	ENSG00000185664		0.507	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	95	0.00	0	C	NM_006928		56349080	56349080	-1	no_errors	ENST00000360714	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.972	-
ROBO2	6092	genome.wustl.edu	37	3	77612343	77612343	+	Silent	SNP	C	C	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr3:77612343C>T	ENST00000461745.1	+	11	2445	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	ROBO2_ENST00000332191.8_Silent_p.N515N|ROBO2_ENST00000487694.3_Silent_p.N531N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	515					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.N515N(1)|p.N531N(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAGTAAAAACTATGATTTAA	0.448																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											61.0	59.0	59.0					3																	77612343		1874	4111	5985	-	-	-	SO:0001819	synonymous_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1545C>T	3.37:g.77612343C>T			O43608|Q19AB4|Q19AB5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N515	ENST00000461745.1	37	c.1545	CCDS43109.1	3																																																																																			ROBO2	-	superfamily_Fibronectin_type3	ENSG00000185008		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	72	0.00	0	C	XM_031246		77612343	77612343	+1	no_errors	ENST00000461745	ensembl	human	known	69_37n	silent	45	35.71	25	SNP	1.000	T
POLQ	10721	genome.wustl.edu	37	3	121158894	121158894	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr3:121158894C>A	ENST00000264233.5	-	27	7462	c.7334G>T	c.(7333-7335)gGa>gTa	p.G2445V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2445					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.G2580V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTACGCCTTCCCAAAATGGT	0.323								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											1	Substitution - Missense(1)	breast(1)											121.0	120.0	120.0					3																	121158894		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7334G>T	3.37:g.121158894C>A	ENSP00000264233:p.Gly2445Val		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.G2445V	ENST00000264233.5	37	c.7334	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948018	0.73787	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.97138	-4.26	4.85	3.06	0.35304	DNA-directed DNA polymerase, family A, palm domain (2);	0.166788	0.52532	D	0.000062	D	0.98751	0.9580	H	0.96430	3.82	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98664	1.0685	10	0.87932	D	0	.	10.7333	0.46109	0.0:0.8519:0.0:0.1481	.	2445;1617	O75417;O75417-2	DPOLQ_HUMAN;.	V	2068;2445;2581	ENSP00000264233:G2445V	ENSP00000264233:G2445V	G	-	2	0	POLQ	122641584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.840000	0.62817	0.658000	0.30925	0.563000	0.77884	GGA	POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom	ENSG00000051341		0.323	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	216	0.00	0	C	NM_199420		121158894	121158894	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	missense	193	29.71	82	SNP	1.000	A
SAGE1	55511	genome.wustl.edu	37	X	134986704	134986704	+	Silent	SNP	T	T	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chrX:134986704T>C	ENST00000370709.3	+	3	289	c.289T>C	c.(289-291)Ttg>Ctg	p.L97L	SAGE1_ENST00000535938.1_Silent_p.L97L|SAGE1_ENST00000537770.1_Silent_p.L97L|SAGE1_ENST00000324447.3_Silent_p.L97L			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	97						nucleus (GO:0005634)		p.L97L(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGATAATGTCTTGTCAACTGC	0.428																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											163.0	129.0	140.0					X																	134986704		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.289T>C	X.37:g.134986704T>C			Q5JNW0	Silent	SNP	NULL	p.L97	ENST00000370709.3	37	c.289	CCDS14652.1	X																																																																																			SAGE1	-	NULL	ENSG00000181433		0.428	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	121	0.00	0	T	NM_018666		134986704	134986704	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	silent	45	30.77	20	SNP	0.023	C
SLC25A13	10165	genome.wustl.edu	37	7	95751180	95751180	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr7:95751180delC	ENST00000265631.5	-	16	1857	c.1721delG	c.(1720-1722)ggafs	p.G574fs	SLC25A13_ENST00000542654.1_Frame_Shift_Del_p.G466fs|SLC25A13_ENST00000416240.2_Frame_Shift_Del_p.G575fs|SLC25A13_ENST00000494085.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	574					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.G574fs*22(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AGCTTTTGGTCCTTCTTCACG	0.418																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											135.0	127.0	130.0					7																	95751180		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1721delG	7.37:g.95751180delC	ENSP00000265631:p.Gly574fs		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Frame_Shift_Del	DEL	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier	p.G575fs	ENST00000265631.5	37	c.1724	CCDS5645.1	7																																																																																			SLC25A13	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000004864		0.418	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	122	0.00	0	C	NM_014251		95751180	95751180	-1	no_errors	ENST00000416240	ensembl	human	known	69_37n	frame_shift_del	93	25.40	32	DEL	1.000	-
SPICE1	152185	genome.wustl.edu	37	3	113166914	113166914	+	Silent	SNP	G	G	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr3:113166914G>T	ENST00000295872.4	-	16	2656	c.2397C>A	c.(2395-2397)gtC>gtA	p.V799V		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	799					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.V799V(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGACGGGAGAGACAGTACTAC	0.318																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											115.0	121.0	119.0					3																	113166914		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2397C>A	3.37:g.113166914G>T			D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.S133Y	ENST00000295872.4	37	c.398	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016351	0.19355	.	.	ENSG00000163611	ENST00000467618	.	.	.	5.61	1.09	0.20402	.	.	.	.	.	T	0.46073	0.1374	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27571	-1.0070	4	.	.	.	-0.2209	4.202	0.10471	0.2565:0.3916:0.3519:0.0	.	.	.	.	Y	133	.	.	S	-	2	0	SPICE1	114649604	0.962000	0.33011	0.999000	0.59377	0.950000	0.60333	1.523000	0.35932	0.369000	0.24510	0.655000	0.94253	TCT	SPICE1	-	NULL	ENSG00000163611		0.318	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	271	0.00	0	G	NM_144718		113166914	113166914	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467618	ensembl	human	putative	69_37n	missense	204	18.73	47	SNP	0.995	T
TACC2	10579	genome.wustl.edu	37	10	123988915	123988915	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr10:123988915C>T	ENST00000369005.1	+	15	8291	c.7951C>T	c.(7951-7953)Cac>Tac	p.H2651Y	TACC2_ENST00000360561.3_Missense_Mutation_p.H729Y|TACC2_ENST00000513429.1_Missense_Mutation_p.H797Y|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000358010.1_Missense_Mutation_p.H797Y|TACC2_ENST00000368999.1_Missense_Mutation_p.H741Y|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000369004.3_Missense_Mutation_p.H741Y|TACC2_ENST00000334433.3_Missense_Mutation_p.H2651Y|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.H729Y	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2651					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.H2651Y(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGCTAGCTCACCCCGTCTC	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											230.0	245.0	240.0					10																	123988915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7951C>T	10.37:g.123988915C>T	ENSP00000358001:p.His2651Tyr		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.H2651Y	ENST00000369005.1	37	c.7951	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938233	0.52972	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000334433;ENST00000358010;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T	0.05258	3.98;3.59;3.98;3.59;3.47;3.48;3.47;3.48	5.93	5.02	0.67125	.	0.416746	0.17826	N	0.160706	T	0.12732	0.0309	N	0.24115	0.695	0.80722	D	1	P;D;D;D;D	0.64830	0.936;0.961;0.961;0.961;0.994	P;P;P;P;D	0.67231	0.515;0.622;0.541;0.541;0.95	T	0.06144	-1.0843	10	0.62326	D	0.03	-4.654	11.2425	0.48977	0.1509:0.7203:0.1289:0.0	.	741;729;729;797;2651	D6RAA5;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;TACC2_HUMAN	Y	2651;797;2651;797;729;741;741;729	ENSP00000358001:H2651Y;ENSP00000425062:H797Y;ENSP00000334280:H2651Y;ENSP00000350701:H797Y;ENSP00000353763:H729Y;ENSP00000357995:H741Y;ENSP00000422815:H741Y;ENSP00000260733:H729Y	ENSP00000260733:H729Y	H	+	1	0	TACC2	123978905	0.995000	0.38212	0.365000	0.25901	0.578000	0.36192	1.939000	0.40213	1.499000	0.48617	0.655000	0.94253	CAC	TACC2	-	NULL	ENSG00000138162		0.557	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	146	0.00	0	C			123988915	123988915	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	23	45.24	19	SNP	0.852	T
TEX14	56155	genome.wustl.edu	37	17	56679891	56679891	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr17:56679891T>A	ENST00000240361.8	-	12	1500	c.1415A>T	c.(1414-1416)aAt>aTt	p.N472I	TEX14_ENST00000389934.3_Missense_Mutation_p.N466I|TEX14_ENST00000349033.5_Missense_Mutation_p.N466I			Q8IWB6	TEX14_HUMAN	testis expressed 14	472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.N466I(1)|p.N472I(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCTAAATAATTCCCCGAGAC	0.403																																						dbGAP											2	Substitution - Missense(2)	breast(2)											90.0	85.0	86.0					17																	56679891		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1415A>T	17.37:g.56679891T>A	ENSP00000240361:p.Asn472Ile		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.N472I	ENST00000240361.8	37	c.1415	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834351	0.71373	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.82893	-1.66;-1.66;-1.66	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.339442	0.28883	N	0.013821	D	0.87470	0.6185	M	0.75884	2.315	0.36850	D	0.887832	P;P;B	0.47545	0.757;0.897;0.309	P;P;B	0.53809	0.544;0.735;0.243	D	0.89515	0.3774	10	0.41790	T	0.15	-8.023	13.1919	0.59715	0.0:0.0:0.0:1.0	.	472;466;466	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	I	472;466;466	ENSP00000240361:N472I;ENSP00000374584:N466I;ENSP00000268910:N466I	ENSP00000240361:N472I	N	-	2	0	TEX14	54034890	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	2.569000	0.45973	2.192000	0.70111	0.460000	0.39030	AAT	TEX14	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000121101		0.403	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	95	0.00	0	T			56679891	56679891	-1	no_errors	ENST00000240361	ensembl	human	known	69_37n	missense	44	40.54	30	SNP	1.000	A
THOC3	84321	genome.wustl.edu	37	5	175388335	175388335	+	Silent	SNP	T	T	C	rs201011758		TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr5:175388335T>C	ENST00000265097.4	-	4	822	c.732A>G	c.(730-732)gcA>gcG	p.A244A	THOC3_ENST00000510300.1_5'UTR|THOC3_ENST00000514861.1_Silent_p.A59A|THOC3_ENST00000513482.1_Silent_p.A244A|RP11-91H12.4_ENST00000502813.1_RNA	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	244					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCAAAGCATCTGCACTTCCTG	0.493																																						dbGAP											0													15.0	13.0	14.0					5																	175388335		1113	1915	3028	-	-	-	SO:0001819	synonymous_variant	0			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.732A>G	5.37:g.175388335T>C			Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R28G	ENST00000265097.4	37	c.82	CCDS4397.1	5	248	0.11355311355311355	56	0.11382113821138211	47	0.1298342541436464	32	0.055944055944055944	113	0.14907651715039577	T	10.68	1.417318	0.25552	.	.	ENSG00000051596	ENST00000505969	.	.	.	4.74	-8.0	0.01126	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.09310	P	0.9999999999999427	.	.	.	.	.	.	T	0.17992	-1.0351	3	.	.	.	-11.9501	6.3489	0.21365	0.2591:0.4233:0.0:0.3176	.	.	.	.	G	28	.	.	R	-	1	2	THOC3	175320941	0.002000	0.14202	0.959000	0.39883	0.990000	0.78478	-1.500000	0.02283	-0.895000	0.03920	-0.509000	0.04479	AGA	THOC3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000051596		0.493	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	8	0.00	0	T			175388335	175388335	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000505969	ensembl	human	putative	69_37n	missense	0	100.00	3	SNP	0.366	C
TP53	7157	genome.wustl.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102.0	91.0	94.0					17																	7578263		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R196*	ENST00000269305.4	37	c.586	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	142	0.00	0	G	NM_000546		7578263	7578263	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	37	43.08	28	SNP	1.000	A
TSC22D3	1831	genome.wustl.edu	37	X	106959960	106959960	+	Silent	SNP	G	G	A	rs371846650		TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chrX:106959960G>A	ENST00000372397.2	-	1	405	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	TSC22D3_ENST00000372390.4_5'Flank|TSC22D3_ENST00000315660.4_Intron|TSC22D3_ENST00000514426.1_Intron|TSC22D3_ENST00000372382.4_Intron|TSC22D3_ENST00000372384.2_Intron|TSC22D3_ENST00000372383.4_Intron|TSC22D3_ENST00000506081.1_Intron	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	28	AP1-binding. {ECO:0000250}.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L28L(1)		breast(1)|large_intestine(2)|lung(3)	6						CCTCCAAGCAGAGAAGAGAAG	0.612																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											75.0	72.0	73.0					X																	106959960		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.82C>T	X.37:g.106959960G>A			Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Silent	SNP	pfam_TSC-22_Dip_Bun	p.L28	ENST00000372397.2	37	c.82	CCDS14531.1	X																																																																																			TSC22D3	-	NULL	ENSG00000157514		0.612	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057843.2	108	0.00	0	G	NM_198057		106959960	106959960	-1	no_errors	ENST00000372397	ensembl	human	known	69_37n	silent	31	38.00	19	SNP	0.999	A
TTC4	7268	genome.wustl.edu	37	1	55188450	55188450	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr1:55188450G>C	ENST00000371281.3	+	5	659	c.572G>C	c.(571-573)aGg>aCg	p.R191T	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	191								p.R191T(1)		breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						CTGGAAATGAGGGCTAAAGCA	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											114.0	106.0	109.0					1																	55188450		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.572G>C	1.37:g.55188450G>C	ENSP00000360329:p.Arg191Thr		Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.R191T	ENST00000371281.3	37	c.572	CCDS596.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458559	0.84317	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.16324	2.35	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.45796	0.1360	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.71656	0.893;0.974	T	0.43310	-0.9399	9	0.62326	D	0.03	-13.9071	18.1602	0.89706	0.0:0.0:1.0:0.0	.	191;202	O95801;Q5TA95	TTC4_HUMAN;.	T	191;202	ENSP00000360329:R191T	ENSP00000360329:R191T	R	+	2	0	TTC4	54961038	1.000000	0.71417	0.737000	0.30932	0.979000	0.70002	8.978000	0.93450	2.703000	0.92315	0.460000	0.39030	AGG	TTC4	-	NULL	ENSG00000243725		0.453	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC4	HGNC	protein_coding	OTTHUMT00000027432.1	94	0.00	0	G	NM_004623		55188450	55188450	+1	no_errors	ENST00000371281	ensembl	human	known	69_37n	missense	52	13.33	8	SNP	1.000	C
UNC5D	137970	genome.wustl.edu	37	8	35608151	35608151	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr8:35608151C>A	ENST00000404895.2	+	13	2315	c.1987C>A	c.(1987-1989)Ccc>Acc	p.P663T	UNC5D_ENST00000453357.2_Missense_Mutation_p.P658T|UNC5D_ENST00000420357.1_Missense_Mutation_p.P596T|UNC5D_ENST00000449677.1_Missense_Mutation_p.P239T|UNC5D_ENST00000287272.2_Missense_Mutation_p.P594T|UNC5D_ENST00000416672.1_Missense_Mutation_p.P668T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	663					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.P658T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTTTTGGACCCCTTTGCGTG	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											248.0	207.0	221.0					8																	35608151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1987C>A	8.37:g.35608151C>A	ENSP00000385143:p.Pro663Thr		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.P663T	ENST00000404895.2	37	c.1987	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998649	0.35226	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.52983	0.67;1.11;1.11;0.67;0.64;2.57	5.9	5.9	0.94986	.	0.101045	0.64402	D	0.000001	T	0.33933	0.0880	N	0.12182	0.205	0.51012	D	0.999902	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.09377	0.004;0.003;0.001	T	0.09143	-1.0688	10	0.22706	T	0.39	-21.4401	20.2822	0.98520	0.0:1.0:0.0:0.0	.	239;658;663	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	T	663;596;594;668;658;239	ENSP00000385143:P663T;ENSP00000392739:P596T;ENSP00000287272:P594T;ENSP00000412652:P668T;ENSP00000394303:P658T;ENSP00000397211:P239T	ENSP00000287272:P594T	P	+	1	0	UNC5D	35727693	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.745000	0.38278	2.806000	0.96561	0.655000	0.94253	CCC	UNC5D	-	NULL	ENSG00000156687		0.478	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	168	0.00	0	C			35608151	35608151	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	49	38.75	31	SNP	1.000	A
UTRN	7402	genome.wustl.edu	37	6	144768443	144768443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr6:144768443C>T	ENST00000367545.3	+	14	1711	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	571	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R571*(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCAGTGTTCGACGTCTGGC	0.383																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(1)|breast(1)											118.0	104.0	109.0					6																	144768443		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1711C>T	6.37:g.144768443C>T	ENSP00000356515:p.Arg571*		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R571*	ENST00000367545.3	37	c.1711	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	38	7.240768	0.98157	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.85	4.98	0.66077	.	0.000000	0.44902	D	0.000415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7217	0.40306	0.1401:0.7897:0.0:0.0702	.	.	.	.	X	571	.	ENSP00000356499:R571X	R	+	1	2	UTRN	144810136	1.000000	0.71417	0.110000	0.21437	0.686000	0.39977	4.662000	0.61525	1.470000	0.48102	0.561000	0.74099	CGA	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	207	0.00	0	C			144768443	144768443	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	nonsense	78	47.65	71	SNP	0.999	T
VPS11	55823	genome.wustl.edu	37	11	118948934	118948934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr11:118948934delA	ENST00000300793.6	+	12	1852	c.1810delA	c.(1810-1812)aaafs	p.K604fs	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	605					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCGAGAGCTGAAAGCCTTCCT	0.542																																						dbGAP											0													151.0	151.0	151.0					11																	118948934		1987	4164	6151	-	-	-	SO:0001589	frameshift_variant	0			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1810delA	11.37:g.118948934delA	ENSP00000475301:p.Lys604fs		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	DEL	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-	ENSG00000160695		0.542	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		111	0.00	0	A	NM_021729		118948934	118948934	+1	no_errors	ENST00000300793	ensembl	human	known	69_37n	rna	12	14.29	2	DEL	1.000	-
ZNF781	163115	genome.wustl.edu	37	19	38160608	38160608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0RU-01A-11D-A099-09	TCGA-B6-A0RU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	251371ac-ef46-4e11-b45e-a2aaa986a2d2	5a22cccd-1c8a-425c-bc7c-3043bf4d8d15	g.chr19:38160608G>A	ENST00000590008.1	-	5	1294	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Nonsense_Mutation_p.Q148*			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q148*(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CCCACATTCTGTACATTCGTA	0.383																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											132.0	131.0	132.0					19																	38160608		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.442C>T	19.37:g.38160608G>A	ENSP00000466370:p.Gln148*		Q2VPJ8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q148*	ENST00000590008.1	37	c.442	CCDS12507.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.602768	0.96614	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	.	.	.	2.21	-4.42	0.03579	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.8789	13.4512	0.61172	0.0:0.0:0.7356:0.2643	.	.	.	.	X	148	.	ENSP00000351391:Q148X	Q	-	1	0	ZNF781	42852448	0.000000	0.05858	0.005000	0.12908	0.085000	0.17905	-0.036000	0.12185	-2.477000	0.00525	-0.749000	0.03505	CAG	ZNF781	-	NULL	ENSG00000196381		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	124	0.00	0	G	NM_152605		38160608	38160608	-1	no_errors	ENST00000358582	ensembl	human	known	69_37n	nonsense	166	28.94	68	SNP	0.001	A
